RARE DISEASE
Rare renal tumor
Rare renal tumor
Rare renal tumor
Drug discovery
0
drugs
With orphan designations
Overview
Rare renal tumors encompass diverse subtypes, including TFE3-rearranged RCC, renal medullary carcinoma (RMC), collecting duct carcinoma, and hereditary leiomyomatosis-associated RCC. These tumors often present diagnostic challenges due to overlapping morphological features with common subtypes like clear cell RCC [1][12][15]. Aggressive variants such as RMC have poor prognoses (median survival <1 year) [12], while others like chromophobe RCC show favorable outcomes with early resection [12]. Molecular profiling and PD-L1 expression are increasingly critical for accurate diagnosis and targeted treatment selection [1][3][8].
Burden
Metastatic cases show high symptom burden (mean 3.4 symptoms/patient) [4], frequent hospitalizations (21.6% within 6 months) [4], and reduced quality of life (mean FKSI-19 score 53.6 vs. reference 59.8) [4].
Advanced RMC and sarcomatoid variants have <12% 5-year survival [12][15], with late diagnoses common due to mimicry of benign conditions [1][12].
Therapies
Targeted therapies: Bevacizumab + erlotinib for HLRCC-associated tumors (72% response rate) [3], cabozantinib for papillary RCC [17], and PD-L1 inhibitors for TFE3-rearranged tumors [1].
Immunotherapy combinations: Nivolumab/ipilimumab or atezolizumab added to VEGF-TKIs in clinical trials [8][17].
Emergent agents: HIF-2α inhibitors (belzutifan) and next-gen TKIs (zanzalintinib) under investigation [8][17].
Categories: rare neoplastic diseases, rare renal diseases
Research Papers
194 drug discovery papers about Rare renal tumor, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
194 drug discovery papers about Rare renal tumor, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
categories:
Small molecules
small molecules
2026-08-28 | Tumor-to-tumor metastasis: a rare case of clear cell renal cell carcinoma metastasizing into lung adenocarcinoma
Tumor-to-tumor metastasis (TTM) is a very rare condition in which a malignant tumor (donor) metastasizes into another primary neoplasm, either benign or malignant (recipient). We report the case of a 74-year-old man previously surgically treated for a clear cell renal cell carcinoma(ccRCC) who developped a new subsolid nodule in the right upper pulmonary lobe discovered at a four-year follow-up CT scan. The patient underwent a right uniportal thoracoscopic S1 segmentectomy and mediastinal lymph node dissection. Histopathological examination revealed a lung adenocarcinoma (LUAD) containing a focus of metastatic ccRCC without lymph node involvement or evidence of additional metastatic disease. To date, the patient remains disease-free. Metastasis of renal tumor cells into a primary lung tumor is exceptionally rare. To our knowledge, this is the first reported case of ccRCC metastasizing into LUAD without evidence of systemic dissemination.
2026-07-20 | Cabozantinib-related pneumothorax in responsive patients with renal cell carcinoma: a case report
BACKGROUND: Cabozantinib is a multi-kinase inhibitor that has been shown to be effective in the treatment of unresectable or metastatic renal cell carcinoma and unresectable hepatocellular carcinoma that worsened after anticancer drug therapy. Tyrosine kinase inhibitors (TKIs) are known to suppress tumor angiogenesis by inhibiting vascular endothelial growth factor (VEGF). Furthermore, cabozantinib possesses inhibitory effects against AXL and mesenchymal-epithelial transition (MET) not seen with other TKIs. Consequently, cabozantinib may exhibit stronger anti-angiogenic activity than other vascular endothelial growth factor receptors (VEGFR) inhibitors. We report our experience with two cases of pneumothorax presumed to be related to cabozantinib in patients with renal cell carcinoma presenting with lung metastases. CASE PRESENTATION: A 59-year-old-asian-woman with renal cell carcinoma developed pneumothorax 4 months after starting cabozantinib. After drainage and subsequent bronchial embolization, cabozantinib was resumed, but the patient developed a contralateral pneumothorax. There was inadequate improvement despite multiple adhesive therapies; therefore, repeat bronchial embolization was performed. A 42-year-old-Asian-man with renal cell carcinoma developed a refractory pneumothorax 10 months after starting cabozantinib, which required drainage for 3 weeks. CONCLUSION: Although drug treatment of kidney cancer with cabozantinib has made great progress in recent years, more careful symptomatic monitoring is needed for adverse events associated with this drug. Our results suggest the need to pay attention to the occurrence of pneumothorax, although it is rare.
2026-06-24 | Papillary Renal Neoplasm with Reversed Polarity in a 64-Year-Old Male: A Rare Case Report and Review of the Literature.
Papillary renal neoplasm with reversed polarity is a rare entity, with its latest definition established only in 2019. Given its rarity, with less than 100 reported cases, further characterization is needed to enhance diagnostic accuracy and inform management strategies. We report a case in a 64-year-old Chinese male with an incidentally discovered a size of 5.2cm×4.0cm left renal mass on imaging. The patient has a medical history of coronary heart disease and left lower limb numbness. Further evaluation via contrast-enhanced CT confirmed that a nodular slightly hyperdense lesion approximately 52mm*39mm in size is noted in the left kidney. He underwent a partial nephrectomy and postoperative pathology confirmed PRNRP. Under the microscope, papillary structures can be seen lining a single layer of cuboidal epithelial cells in the left renal cyst and tumor. The nucleus appears low-grade, round, reverse nuclear polarity, and the nucleolus is not obvious. The tumor has not invaded the renal parenchyma. Immunohistochemistry confirmed P504S (+), CK7 (+), CK-H (+), GATA-3 (+), E-Cadherin (+), CK20 (Partial weak+), Vimentin (-), CD10 (individual+), CA-IX (-), RCC (-), Ki-67 (Li 1%). Postoperative recovery was excellent. The patient in this case did not receive any other treatment after surgery. Through regular telephone follow-up for 3 months, the patient's condition was good. Ultrasound examination was performed during the period, and no recurrence or metastasis was found. This article presents a case of papillary renal neoplasm with reversed polarity in an elderly male patient. By reviewing the patient's diagnosis and treatment process and revisiting relevant literature, the clinicopathological features of this tumor are elucidated to enhance understanding of this rare renal tumor. This case reinforces the distinct morphological and molecular profile of PRNRP, distinguishing it from other papillary RCC subtypes. The indolent behavior, absence of metastatic cases, and characteristic molecular profiling and immunohistochemical markers highlight the importance of accurate classification for optimal patient management. As PRNRP is recently classified, continued study is essential to refine diagnostic, therapeutic, and surveillance strategies for this rare renal neoplasm.
2026-06-04 | WHO 2022 Renal Cell Tumor Classification: Imaging Features and Clinical Implications
Radiologists should be familiar with the World Health Organization 2022 renal cell tumor classification and recognize that although most of the rare renal tumors in these categories show gradual enhancement similar to that of papillary renal cell carcinomas, they vary based on patient age, growth pattern, CT attenuation, enhancement degree, homogeneity, T2 signal intensity, and existence of metastases.
2026-06-03 | Rates of adjacent organ invasion in non-metastatic renal cell carcinoma: a population-based study
INTRODUCTION: Pathological T4 (pT4) renal cell carcinoma (RCC) is defined by adjacent organ invasion. The rate of pT4 and its associated clinicopathological characteristics received little attention in non-metastatic (M0) RCC. METHODS: Within the Surveillance, Epidemiology, and End Results (SEER) database (2004-2022), we identified M0 RCC nephrectomy patients and assessed pT4 rates. RESULTS: Of 129,075 M0 RCC nephrectomy patients, 733 (0.6%) harbored pT4 stage. Annual pT4 rates decreased from 1.4% in 2004 to 0.4% in 2022 (p < 0.001). According to tumor size, the pT4 rate was 0.1% in tumors <7 cm and increased from 0.7% in 7-7.9 cm tumors to 6.4% in ≥15 cm tumors (p < 0.001). In patients undergoing radical nephrectomy for tumors ≥7 cm, pT4 rate was 2.5% (578/22,981). According to histology, pT4 rates were 2.3% (376/16,703) in clear-cell RCC, 3.0% (81/2682) in papillary RCC, 1.2% (27/2274) in chromophobe RCC, 6.7% (75/1119) in sarcomatoid dedifferentiated tumors, 13.2% (7/53) in collecting duct carcinomas, and 8.0% (12/150) in other variant histologies (p < 0.001). Compared to pT2-3 patients, pT4 patients more frequently underwent lymphadenectomy (63.3% [366/578] vs. 30.0% [6724/22,403], p < 0.001). Among patients who underwent lymphadenectomy, lymph node invasion was more common in pT4 than in pT2-3 stage (83.6% [298/366] vs. 54.8% [3901/6724], p < 0.001). CONCLUSION: In M0 RCC, pT4 is rare. It is virtually non-existent in tumors <7 cm. The highest pT4 rates are observed in variant histologies. Compared to pT2-3, pT4 is associated with higher lymphadenectomy use and lymph node invasion rates. Collectively, these findings provide descriptive population-level benchmarks.
cell therapies
2026-07-02 | Renal oncocytoma: Α case report and literature review
Areti Kalfoutzou1, Cleopatra Rapti2, Vasiliki Lagopulou3, Eleftheria Bagiokou4, Margaritis Tsantopoulos3, Nikolaos Chaleplidis3 and Vasileios Ramfidis2 1 Second Propaedeutic Department of Internal Medicine, Attikon General Hospital, National and Kapodistrian University of Athens, Athens, Greece 2 Department of Medical Oncology, 251 Air Force General Hospital, Athens, Greece 3 Department of Pathology, 251 Air Force General Hospital, Athens, Greece 4 Oncology Unit, 3rd Department of Internal Medicine, Athens General Hospital of Thoracic Diseases “Sotiria”, National and Kapodistrian University of Athens, Athens, Greece Correspondence to: Areti Kalfoutzou, email:areti.kalfoutzou@haf.gr Keywords: cryoablation; image-guided biopsy; kidney neoplasms; minimally invasive surgery; renal oncocytoma Received: July 23, 2025 Accepted: May 21, 2026 Published: July 02, 2026 Copyright: © 2026 Kalfoutzou et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Renal oncocytoma is a rare benign kidney tumor arising from the intercalated cells of the distal renal tubules. These tumors are often asymptomatic and incidentally discovered on imaging. This report presents an 82-year-old female patient with gross hematuria, who was subsequently diagnosed with a small renal oncocytoma. A computed tomography (CT) scan of the abdomen revealed a lesion in the upper left kidney, diagnosed as a renal oncocytoma by histopathological examination of a tissue specimen obtained via a CT-guided biopsy. After multidisciplinary review, the tumor board recommended local treatment with percutaneous cryoablation due to the lesion’s small size and indolent nature. The patient has been on annual follow-up with imaging showing no disease progression over two years. This case highlights the management considerations for renal oncocytoma, particularly in elderly patients, and underscores the role of biopsy and multidisciplinary evaluation in deciding optimal, minimally invasive treatment strategies for benign renal tumors.
2024-01-09 | Evolution of cell therapy for renal cell carcinoma
Treatment for renal cell carcinoma (RCC) has improved dramatically over the last decade, shifting from high-dose cytokine therapy in combination with surgical resection of tumors to targeted therapy, immunotherapy, and combination therapies. However, curative treatment, particularly for advanced-stage disease, remains rare. Cell therapy as a "living drug" has achieved hematological malignancy cures with a high response rate, and significant research efforts have been made to facilitate its translation to solid tumors. Herein, we overview the cellular therapies for RCC focusing on allogeneic hematopoietic stem cell transplantation, T cell receptor gene-modified T cells, chimeric antigen receptor (CAR) T cells, CAR natural killer (NK) cells, lymphokine-activated killer (LAK) cells, γδ T cells, and dendritic cell vaccination. We have also included perspectives for using other recent approaches, such as CAR macrophages, dendritic cell-cytokine induced killer cells and regulatory CAR-T cells to shed light on preclinical development of cell therapy and advancing cell therapy into clinic to achieve cures for RCC.
2023-10-31 | 442 CAIX targeted CAR-T cells exhibited antitumor efficacy on renal cell carcinoma (RCC) patient derived organotypic tumor spheroids (PDOTS)
Background
Renal cell carcinoma (RCC) represents approximately 3% of adult cancers and about 70–80% of RCC cases have clear cell histology (ccRCC), with 30% of patients developing metastatic ccRCC. Despite a significant improvement in advanced ccRCC therapy, a curative treatment remains rare. Chimeric Antigen Receptor (CAR) T cell therapy as a 'living drug' has achieved hematological malignancy cures with a high response rate, and significant research efforts have been made to facilitate its translation to solid tumor treatment.
Methods
Here, we constructed a series of anti-carbonic anhydrase IX (CAIX) CARs with various affinities and assessed the avidity and cytotoxicity of those CAR-T cells using CAIX-high skrc-59 cells and CAIX-low MMNK-1 cholangiocytes. A tetracycline (Tet)-On inducible CAIX expressing system was established, providing different CAIX levels on the cell surface covering the range from the density on tumor cells to the one on cholangiocytes quantified using direct stochastic optical reconstruction microscopy (dSTORM). To evaluate the therapeutic effect of CAR-T on patient samples, we generated both advanced RCC patient derived organotypic spheroids (PDOTS) ex vivo cultures which recapitulates ccRCC patient tumor microenvironment (TME), and tested CAR-T cell migration and cytokine release using these miniature tumors.
Results
We identified a low affinity, high avidity anti-CAIX CAR G9, which only kills CAIX high tumor cells but not CAIX-low normal tissues in vitro. G9 demonstrated a CAIX density dependent response on Tet-On inducible CAIX expressing cell lines, with a wider therapeutic window compared to G250 that caused severe adverse events in the first anti-CAIX CAR-T clinal trial.1–3. G9 exhibited superior efficacy ex vivo on PDOTS 3D cultures derived from advanced ccRCC, as well as mitigated toxicity on cholangiocyte spheroids. In an orthotopic RCC mouse model, G9 showed enhanced tumor control compared to G250.
Conclusions
In summary, affinity/avidity fine-tuned CAR-T cell therapy holds the promise to achieve cures of advanced RCC by maintaining killing on tumor cells and mitigating toxicity on normal tissues.
References
Lamers CH, Klaver Y, Gratama JW, Sleijfer S & Debets R. Treatment of metastatic renal cell carcinoma (mRCC) with CAIX CAR-engineered T-cells-a completed study overview. Biochem Soc Trans. 2016 Jun 15; 44: 951–959, doi:10.1042/bst20160037 Lamers CH, Sleijfer S, Vulto AG, Kruit WH, Kliffen M, Debets R, et al. Treatment of metastatic renal cell carcinoma with autologous T-lymphocytes genetically retargeted against carbonic anhydrase IX: first clinical experience. J Clin Oncol. 2006 May 1; 24: e20–22, doi:10.1200/jco.2006.05.9964 Lamers CH, Willemsen R, van Elzakker P, van Steenbergen-Langeveld S, Broertjes M, Oosterwijk-Wakka J, et al. Immune responses to transgene and retroviral vector in patients treated with ex vivo-engineered T cells. Blood. 2011 Jan 6; 117: 72–82, doi:10.1182/blood-2010-07-294520
antibodies
2026-07-30 | Complete response to dual immune checkpoint blockade in a patient with Birt-Hogg-Dubé syndrome and epithelioid angiomyolipoma.
Epithelioid angiomyolipoma (E-AML) is a rare renal tumor, which can exhibit malignant potential. Because angiomyolipomas frequently harbor TSC1/TSC2 alterations, mTOR inhibitors are commonly used. However, durable disease control remains inconsistent. The potential for long-lasting response with immune checkpoint inhibitors supports exploring their role in E-AML. We report a patient with highly symptomatic, locally advanced renal E-AML treated with first-line ipilimumab plus nivolumab. The patient experienced rapid symptomatic and radiographic improvement after treatment initiation. She subsequently developed immune-related sarcoidosis, which resolved after discontinuation of immunotherapy and with corticosteroids. Given sustained disease control, she underwent delayed nephrectomy demonstrating complete pathologic response in the primary tumor. Genomic analysis revealed a germline mutation in FLCN consistent with Birt-Hogg-Dubé syndrome. T-cell receptor sequencing identified a shared expanded T-cell clone in peripheral blood and within the tumor. With extended follow-up for over 5 years, she remains in durable remission after dual immune checkpoint blockade. To our knowledge, this is the first report of dual immune checkpoint blockade in renal E-AML. This case demonstrates that first-line ipilimumab plus nivolumab can induce deep, durable response-including complete pathologic response-in a rare malignancy with limited standard treatment options, supporting further evaluation of immunotherapy in this disease.
2026-03-07 | Sarcomatoid Renal Cell Carcinoma: Biological Features and Therapeutic Implications—A Narrative Review
PURPOSE OF THE REVIEW: This review underscores the importance of recognizing sarcomatoid features in renal cell carcinoma, as this component significantly impacts prognosis and treatment strategies. RECENT FINDINGS: Sarcomatoid renal cell carcinoma (sRCC) is a rare and aggressive form of renal cancer characterized by poor prognosis and distinct biological features. Despite its clinical significance, there remains a knowledge gap regarding the comprehensive understanding of its molecular and therapeutic landscape. Recent studies provided an extensive overview of the clinical, pathological, and molecular characteristics of sRCC, highlighting its unique genomic alterations and immune profile. Notably, sRCC exhibits a highly inflamed tumor microenvironment, which correlates with increased responsiveness to immune checkpoint inhibitors. Our findings suggest that integrating immunotherapy into the management of sRCC could enhance patient outcomes, paving the way for future research and clinical applications in this challenging cancer subtype.
2025-11-02 | mTOR ‐mediated upregulation of B7 ‐ H3 in MiT / TFE translocation renal cell carcinoma
Abstract Clinical trials targeting B7‐H3 ( CD276 ), a membranous immunomodulatory molecule in the B7 superfamily, have shown promise in prostate cancer and may be expanded to additional tumor types with high expression, such as those with mTOR signaling activation. MiT/TFE‐rearranged translocation renal cell carcinoma (tRCC) is a rare, aggressive subtype that is relatively immune‐depleted, with high levels of mTOR activity. Thus, we assessed B7‐H3 expression in preclinical tRCC models and human tRCC samples. As hypothesized, we found that induction of TFE3 fusion proteins, including SFPQ‐TFE3, PRCC‐TFE3, ASPSCR1‐TFE3, and NONO‐TFE3, is associated with upregulation of B7‐H3 in multiple human preclinical tRCC cell line systems and transgenic mouse models. Pharmacologic or genetic inhibition of mTOR signaling is sufficient to downregulate B7‐H3 expression in inducible and patient‐derived, human cell line models of tRCC. In keeping with these preclinical results, human tRCC demonstrated significantly higher gene expression of CD276 than normal kidney, across five of the six fusions studied. At the protein level, tRCC had higher tumor cell B7‐H3 intensity and proportion scores than normal kidney or clear cell RCC (ccRCC). B7‐H3 expression in tumor vasculature was similar in tRCC and ccRCC, both of which showed significantly higher expression than normal kidney. Within tRCC cases, higher CD276 expression was observed in metastatic compared to localized tumors and was associated with lower tumoral CD4 + T‐cell content by bulk RNAseq deconvolution. Taken together, tRCC fusion proteins upregulate B7‐H3 expression via increased mTOR signaling, resulting in a higher tumoral B7‐H3 expression compared to normal kidney or conventional RCC, suggesting that B7‐H3 may be a promising therapeutic target in tRCC. © 2025 The Pathological Society of Great Britain and Ireland.
2025-10-30 | Identification of therapeutic targets for renal medullary carcinoma via integrated genomic and transcriptomic profiling
Renal medullary carcinoma (RMC) is a rare but highly aggressive kidney cancer that resists conventional therapies. To identify therapeutic targets, this study employs histopathologic, genomic, and transcriptomic profiling of 25 RMC samples. TROP2, EPCAM, CLDN6, and CDH6 are significantly overexpressed compared with other renal and solid tumors. Pathway analyses indicate Hippo pathway upregulation and a tumor microenvironment rich in fibroblasts and neutrophils. We subsequently explore treatment of four heavily pretreated patients, all with high TROP2 expression, using sacituzumab govitecan, a TROP2-targeted antibody-drug conjugate. Of these four patients, one patient achieves a partial response with symptom improvement, two patients maintain stable disease, and the median progression-free survival reaches 2.9 months. This study represents the most extensive molecular characterization of RMC to date, identifying TROP2 and other potential therapeutic targets. Sacituzumab govitecan demonstrates potential clinical benefit, warranting further evaluation in prospective trials to confirm its efficacy and explore additional targets identified herein.
2025-07-25 | Diagnosis and Management of Upper Tract Urothelial Carcinoma: A Review
Background/Objectives: Upper tract urothelial carcinoma (UTUC) is a rare and biologically distinct subset of urothelial malignancies, comprising approximately 5-10% of urothelial cancers. UTUC presents unique diagnostic and therapeutic challenges, with both a higher likelihood of invasive disease at presentation and a less favorable prognosis compared to urothelial carcinoma of the bladder. Current treatment strategies for UTUC are largely derived from bladder cancer studies, underscoring the need for UTUC-directed research. This review provides a comprehensive overview of UTUC, encompassing diagnostic approaches, systemic and intraluminal therapies, surgical management, and future directions. Methods: A narrative review was conducted synthesizing evidence from guideline-based recommendations, retrospective and prospective clinical studies, and ongoing trials focused on UTUC. Results: Neoadjuvant cisplatin-based chemotherapy is increasingly preferred in UTUC due to the risk of postoperative renal impairment that may preclude adjuvant cisplatin use. Surgical management includes kidney-sparing approaches and radical nephroureterectomy (RNU), with selection guided by tumor risk and patient comorbidities. While endoscopic management (EM) preserves renal function, it carries a higher recurrence and surveillance burden; RNU remains standard for high-risk cases. Systemic therapy for advanced and metastatic UTUC mirrors that of bladder urothelial carcinoma. Enfortumab vedotin (EV) plus pembrolizumab showed superior efficacy over chemotherapy in the EV-302 trial, with improved response rate, progression-free survival, and overall survival across subgroups, including UTUC. For patients ineligible for EV, the CheckMate-901 study supported first-line chemoimmunotherapy with gemcitabine, cisplatin, and nivolumab. Further systemic therapy strategies include maintenance avelumab post-chemotherapy (JAVELIN Bladder 100), targeted therapies such as erdafitinib (THOR trial), and trastuzumab deruxtecan (DESTINY-PanTumor02) in FGFR2/3-altered and HER2-positive disease, respectively. Conclusions: Historically, the therapeutic landscape of UTUC has been extrapolated from bladder cancer; however, ongoing research specific to UTUC is deriving more precise regimens involving the use of immune checkpoint inhibitors, antibody-drug conjugates, and biomarker-driven therapies.
proteins
2024-10-01 | 8120 Effective Management of Neonatal Hypercalcemia in Congenital Mesoblastic Nephroma: A Case Report on the Use of Calcitonin
Abstract Disclosure: C.S. Galvez: None. K. Rifai: None. C. Moorthy: None. S. Chheda: None. M. Zerah: None. Introduction: Pediatric patients with hypercalcemia of malignancy are typically treated with hyperhydration, loop diuretics and bisphosphonates. Calcitonin, a peptide functionally antagonizes the effects of PTH. Calcitonin has limited pharmacokinetic data in neonates, especially those with Congenital Mesoblastic Nephroma (CMN), making treatment challenging with unclear safety and efficacy parameters. We present the fourth published case describing the use of calcitonin for likely PTH-rP-mediated severe hypercalcemia in a neonate with CMN. Clinical Case: A 15-day-old late preterm male, presented with lethargy, poor feeds, severe failure to thrive and a large abdominal mass. The mother is a G4P4, with good prenatal care. On admission, the patient was hypertensive (138/84 mmHg) and appeared dehydrated. Physical examination revealed a firm mass in the right abdomen crossing the midline. Serum calcium levels were 13.5 mg/dL (normal 9.0-10.9 mg/dL), with an ionized calcium 1.71 mmol/L (normal 1.15 and 1.30 mmol/L). Abdominal ultrasound showed a large, 9.1 x 8 cm dominant solid right renal mass, most likely CMN, with left-sided medullary nephrocalcinosis. Cardiac Echo and EKG were within normal limits. The patient received hydration, nicardipine (titrated to decrease blood pressure by 10-15 mmHg per day) and furosemide at 1 mg/kg/day IV q6h. Due to the persistence of hypercalcemia after 24 hours of treatment (14.7 mg/dL serum calcium with ionize of 1.81 mmol/L), the patient received one dose of calcitonin (4 units/kg subcutaneously), resulting in a decrease in serum calcium to 11.5 mg/dL in 4 hours. The patient underwent a successful radical right uretero-nephrectomy, with post-surgery improvement of neurological, cardiovascular and electrolyte status. Unfortunately, PTH-rP sample was insufficient. Pathology reported CMN of the cellular type. CMN is a rare tumor with low malignant potential, representing approximately 3% of all pediatric renal tumors. It is the most common renal neoplasm diagnosed in the first 6 months of life. The most common symptom is an abdominal mass (76%), with hypertension (19%). Hypercalcemia was reported in only 4% which can be secondary to paraneoplastic secretion of PTH or PTH-rP. Conclusion: This case represents the fourth instance of calcitonin use in a neonate with CMN to manage persistent hypercalcemia. Subcutaneous administration of calcitonin at 4 units/kg proved effective with a short onset of action (within 2 hours) and duration of 6 to 8 hours, making it a viable alternative to bisphosphonates (action around 48 hours and duration of 7 to 14 days). Calcitonin's advantages include less significant side effects and a faster resolution of complications like "Hungry bone Syndrome." The flexibility of repeated dosing every 6 hours, with the option to increase the dose, if necessary, adds to its clinical utility. Presentation: 6/3/2024
other
2025-12-01 | Extrachromosomal circular miRNA-gene amplifications contribute to the renal cancer phenotype
Megabase-sized extrachromosomal circular DNA with intact oncogenes (ecDNA) plays crucial roles in cancer. However, the impact of smaller (100 bp-1 Mb), more ubiquitous extrachromosomal circular DNA (eccDNA) on tumor pathology is unclear. We analyze eccDNA from 122 renal tumors and adjacent tissues, finding increased eccDNA in late-stage cancers, correlating with heightened patient mortality and copy-number amplification. Large eccDNAs are rare, and smaller eccDNAs predominate. The microRNA (miRNA) genes MIR107, MIR196a, MIR495, and MIR519 are recurrently found on eccDNA, almost exclusively in tumors, and patients with any one of these exhibited shorter progression-free survival. Synthetic eccDNAs with these MIR genes increase cancer cell proliferation in 786-O cells, suggesting oncogenic potential. Additionally, we found eccDNA carrying full protein-coding genes that are overexpressed in transcriptional analyses. Our findings suggest that small eccDNAs with miRNA genes are functional and contribute to the tumorigenesis of renal cell carcinoma.
small molecules
2026-08-28 | Tumor-to-tumor metastasis: a rare case of clear cell renal cell carcinoma metastasizing into lung adenocarcinoma
Tumor-to-tumor metastasis (TTM) is a very rare condition in which a malignant tumor (donor) metastasizes into another primary neoplasm, either benign or malignant (recipient). We report the case of a 74-year-old man previously surgically treated for a clear cell renal cell carcinoma(ccRCC) who developped a new subsolid nodule in the right upper pulmonary lobe discovered at a four-year follow-up CT scan. The patient underwent a right uniportal thoracoscopic S1 segmentectomy and mediastinal lymph node dissection. Histopathological examination revealed a lung adenocarcinoma (LUAD) containing a focus of metastatic ccRCC without lymph node involvement or evidence of additional metastatic disease. To date, the patient remains disease-free. Metastasis of renal tumor cells into a primary lung tumor is exceptionally rare. To our knowledge, this is the first reported case of ccRCC metastasizing into LUAD without evidence of systemic dissemination.
2026-07-20 | Cabozantinib-related pneumothorax in responsive patients with renal cell carcinoma: a case report
BACKGROUND: Cabozantinib is a multi-kinase inhibitor that has been shown to be effective in the treatment of unresectable or metastatic renal cell carcinoma and unresectable hepatocellular carcinoma that worsened after anticancer drug therapy. Tyrosine kinase inhibitors (TKIs) are known to suppress tumor angiogenesis by inhibiting vascular endothelial growth factor (VEGF). Furthermore, cabozantinib possesses inhibitory effects against AXL and mesenchymal-epithelial transition (MET) not seen with other TKIs. Consequently, cabozantinib may exhibit stronger anti-angiogenic activity than other vascular endothelial growth factor receptors (VEGFR) inhibitors. We report our experience with two cases of pneumothorax presumed to be related to cabozantinib in patients with renal cell carcinoma presenting with lung metastases. CASE PRESENTATION: A 59-year-old-asian-woman with renal cell carcinoma developed pneumothorax 4 months after starting cabozantinib. After drainage and subsequent bronchial embolization, cabozantinib was resumed, but the patient developed a contralateral pneumothorax. There was inadequate improvement despite multiple adhesive therapies; therefore, repeat bronchial embolization was performed. A 42-year-old-Asian-man with renal cell carcinoma developed a refractory pneumothorax 10 months after starting cabozantinib, which required drainage for 3 weeks. CONCLUSION: Although drug treatment of kidney cancer with cabozantinib has made great progress in recent years, more careful symptomatic monitoring is needed for adverse events associated with this drug. Our results suggest the need to pay attention to the occurrence of pneumothorax, although it is rare.
2026-06-24 | Papillary Renal Neoplasm with Reversed Polarity in a 64-Year-Old Male: A Rare Case Report and Review of the Literature.
Papillary renal neoplasm with reversed polarity is a rare entity, with its latest definition established only in 2019. Given its rarity, with less than 100 reported cases, further characterization is needed to enhance diagnostic accuracy and inform management strategies. We report a case in a 64-year-old Chinese male with an incidentally discovered a size of 5.2cm×4.0cm left renal mass on imaging. The patient has a medical history of coronary heart disease and left lower limb numbness. Further evaluation via contrast-enhanced CT confirmed that a nodular slightly hyperdense lesion approximately 52mm*39mm in size is noted in the left kidney. He underwent a partial nephrectomy and postoperative pathology confirmed PRNRP. Under the microscope, papillary structures can be seen lining a single layer of cuboidal epithelial cells in the left renal cyst and tumor. The nucleus appears low-grade, round, reverse nuclear polarity, and the nucleolus is not obvious. The tumor has not invaded the renal parenchyma. Immunohistochemistry confirmed P504S (+), CK7 (+), CK-H (+), GATA-3 (+), E-Cadherin (+), CK20 (Partial weak+), Vimentin (-), CD10 (individual+), CA-IX (-), RCC (-), Ki-67 (Li 1%). Postoperative recovery was excellent. The patient in this case did not receive any other treatment after surgery. Through regular telephone follow-up for 3 months, the patient's condition was good. Ultrasound examination was performed during the period, and no recurrence or metastasis was found. This article presents a case of papillary renal neoplasm with reversed polarity in an elderly male patient. By reviewing the patient's diagnosis and treatment process and revisiting relevant literature, the clinicopathological features of this tumor are elucidated to enhance understanding of this rare renal tumor. This case reinforces the distinct morphological and molecular profile of PRNRP, distinguishing it from other papillary RCC subtypes. The indolent behavior, absence of metastatic cases, and characteristic molecular profiling and immunohistochemical markers highlight the importance of accurate classification for optimal patient management. As PRNRP is recently classified, continued study is essential to refine diagnostic, therapeutic, and surveillance strategies for this rare renal neoplasm.
2026-06-04 | WHO 2022 Renal Cell Tumor Classification: Imaging Features and Clinical Implications
Radiologists should be familiar with the World Health Organization 2022 renal cell tumor classification and recognize that although most of the rare renal tumors in these categories show gradual enhancement similar to that of papillary renal cell carcinomas, they vary based on patient age, growth pattern, CT attenuation, enhancement degree, homogeneity, T2 signal intensity, and existence of metastases.
2026-06-03 | Rates of adjacent organ invasion in non-metastatic renal cell carcinoma: a population-based study
INTRODUCTION: Pathological T4 (pT4) renal cell carcinoma (RCC) is defined by adjacent organ invasion. The rate of pT4 and its associated clinicopathological characteristics received little attention in non-metastatic (M0) RCC. METHODS: Within the Surveillance, Epidemiology, and End Results (SEER) database (2004-2022), we identified M0 RCC nephrectomy patients and assessed pT4 rates. RESULTS: Of 129,075 M0 RCC nephrectomy patients, 733 (0.6%) harbored pT4 stage. Annual pT4 rates decreased from 1.4% in 2004 to 0.4% in 2022 (p < 0.001). According to tumor size, the pT4 rate was 0.1% in tumors <7 cm and increased from 0.7% in 7-7.9 cm tumors to 6.4% in ≥15 cm tumors (p < 0.001). In patients undergoing radical nephrectomy for tumors ≥7 cm, pT4 rate was 2.5% (578/22,981). According to histology, pT4 rates were 2.3% (376/16,703) in clear-cell RCC, 3.0% (81/2682) in papillary RCC, 1.2% (27/2274) in chromophobe RCC, 6.7% (75/1119) in sarcomatoid dedifferentiated tumors, 13.2% (7/53) in collecting duct carcinomas, and 8.0% (12/150) in other variant histologies (p < 0.001). Compared to pT2-3 patients, pT4 patients more frequently underwent lymphadenectomy (63.3% [366/578] vs. 30.0% [6724/22,403], p < 0.001). Among patients who underwent lymphadenectomy, lymph node invasion was more common in pT4 than in pT2-3 stage (83.6% [298/366] vs. 54.8% [3901/6724], p < 0.001). CONCLUSION: In M0 RCC, pT4 is rare. It is virtually non-existent in tumors <7 cm. The highest pT4 rates are observed in variant histologies. Compared to pT2-3, pT4 is associated with higher lymphadenectomy use and lymph node invasion rates. Collectively, these findings provide descriptive population-level benchmarks.
cell therapies
2026-07-02 | Renal oncocytoma: Α case report and literature review
Areti Kalfoutzou1, Cleopatra Rapti2, Vasiliki Lagopulou3, Eleftheria Bagiokou4, Margaritis Tsantopoulos3, Nikolaos Chaleplidis3 and Vasileios Ramfidis2 1 Second Propaedeutic Department of Internal Medicine, Attikon General Hospital, National and Kapodistrian University of Athens, Athens, Greece 2 Department of Medical Oncology, 251 Air Force General Hospital, Athens, Greece 3 Department of Pathology, 251 Air Force General Hospital, Athens, Greece 4 Oncology Unit, 3rd Department of Internal Medicine, Athens General Hospital of Thoracic Diseases “Sotiria”, National and Kapodistrian University of Athens, Athens, Greece Correspondence to: Areti Kalfoutzou, email:areti.kalfoutzou@haf.gr Keywords: cryoablation; image-guided biopsy; kidney neoplasms; minimally invasive surgery; renal oncocytoma Received: July 23, 2025 Accepted: May 21, 2026 Published: July 02, 2026 Copyright: © 2026 Kalfoutzou et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Renal oncocytoma is a rare benign kidney tumor arising from the intercalated cells of the distal renal tubules. These tumors are often asymptomatic and incidentally discovered on imaging. This report presents an 82-year-old female patient with gross hematuria, who was subsequently diagnosed with a small renal oncocytoma. A computed tomography (CT) scan of the abdomen revealed a lesion in the upper left kidney, diagnosed as a renal oncocytoma by histopathological examination of a tissue specimen obtained via a CT-guided biopsy. After multidisciplinary review, the tumor board recommended local treatment with percutaneous cryoablation due to the lesion’s small size and indolent nature. The patient has been on annual follow-up with imaging showing no disease progression over two years. This case highlights the management considerations for renal oncocytoma, particularly in elderly patients, and underscores the role of biopsy and multidisciplinary evaluation in deciding optimal, minimally invasive treatment strategies for benign renal tumors.
2024-01-09 | Evolution of cell therapy for renal cell carcinoma
Treatment for renal cell carcinoma (RCC) has improved dramatically over the last decade, shifting from high-dose cytokine therapy in combination with surgical resection of tumors to targeted therapy, immunotherapy, and combination therapies. However, curative treatment, particularly for advanced-stage disease, remains rare. Cell therapy as a "living drug" has achieved hematological malignancy cures with a high response rate, and significant research efforts have been made to facilitate its translation to solid tumors. Herein, we overview the cellular therapies for RCC focusing on allogeneic hematopoietic stem cell transplantation, T cell receptor gene-modified T cells, chimeric antigen receptor (CAR) T cells, CAR natural killer (NK) cells, lymphokine-activated killer (LAK) cells, γδ T cells, and dendritic cell vaccination. We have also included perspectives for using other recent approaches, such as CAR macrophages, dendritic cell-cytokine induced killer cells and regulatory CAR-T cells to shed light on preclinical development of cell therapy and advancing cell therapy into clinic to achieve cures for RCC.
2023-10-31 | 442 CAIX targeted CAR-T cells exhibited antitumor efficacy on renal cell carcinoma (RCC) patient derived organotypic tumor spheroids (PDOTS)
Background
Renal cell carcinoma (RCC) represents approximately 3% of adult cancers and about 70–80% of RCC cases have clear cell histology (ccRCC), with 30% of patients developing metastatic ccRCC. Despite a significant improvement in advanced ccRCC therapy, a curative treatment remains rare. Chimeric Antigen Receptor (CAR) T cell therapy as a 'living drug' has achieved hematological malignancy cures with a high response rate, and significant research efforts have been made to facilitate its translation to solid tumor treatment.
Methods
Here, we constructed a series of anti-carbonic anhydrase IX (CAIX) CARs with various affinities and assessed the avidity and cytotoxicity of those CAR-T cells using CAIX-high skrc-59 cells and CAIX-low MMNK-1 cholangiocytes. A tetracycline (Tet)-On inducible CAIX expressing system was established, providing different CAIX levels on the cell surface covering the range from the density on tumor cells to the one on cholangiocytes quantified using direct stochastic optical reconstruction microscopy (dSTORM). To evaluate the therapeutic effect of CAR-T on patient samples, we generated both advanced RCC patient derived organotypic spheroids (PDOTS) ex vivo cultures which recapitulates ccRCC patient tumor microenvironment (TME), and tested CAR-T cell migration and cytokine release using these miniature tumors.
Results
We identified a low affinity, high avidity anti-CAIX CAR G9, which only kills CAIX high tumor cells but not CAIX-low normal tissues in vitro. G9 demonstrated a CAIX density dependent response on Tet-On inducible CAIX expressing cell lines, with a wider therapeutic window compared to G250 that caused severe adverse events in the first anti-CAIX CAR-T clinal trial.1–3. G9 exhibited superior efficacy ex vivo on PDOTS 3D cultures derived from advanced ccRCC, as well as mitigated toxicity on cholangiocyte spheroids. In an orthotopic RCC mouse model, G9 showed enhanced tumor control compared to G250.
Conclusions
In summary, affinity/avidity fine-tuned CAR-T cell therapy holds the promise to achieve cures of advanced RCC by maintaining killing on tumor cells and mitigating toxicity on normal tissues.
References
Lamers CH, Klaver Y, Gratama JW, Sleijfer S & Debets R. Treatment of metastatic renal cell carcinoma (mRCC) with CAIX CAR-engineered T-cells-a completed study overview. Biochem Soc Trans. 2016 Jun 15; 44: 951–959, doi:10.1042/bst20160037 Lamers CH, Sleijfer S, Vulto AG, Kruit WH, Kliffen M, Debets R, et al. Treatment of metastatic renal cell carcinoma with autologous T-lymphocytes genetically retargeted against carbonic anhydrase IX: first clinical experience. J Clin Oncol. 2006 May 1; 24: e20–22, doi:10.1200/jco.2006.05.9964 Lamers CH, Willemsen R, van Elzakker P, van Steenbergen-Langeveld S, Broertjes M, Oosterwijk-Wakka J, et al. Immune responses to transgene and retroviral vector in patients treated with ex vivo-engineered T cells. Blood. 2011 Jan 6; 117: 72–82, doi:10.1182/blood-2010-07-294520
antibodies
2026-07-30 | Complete response to dual immune checkpoint blockade in a patient with Birt-Hogg-Dubé syndrome and epithelioid angiomyolipoma.
Epithelioid angiomyolipoma (E-AML) is a rare renal tumor, which can exhibit malignant potential. Because angiomyolipomas frequently harbor TSC1/TSC2 alterations, mTOR inhibitors are commonly used. However, durable disease control remains inconsistent. The potential for long-lasting response with immune checkpoint inhibitors supports exploring their role in E-AML. We report a patient with highly symptomatic, locally advanced renal E-AML treated with first-line ipilimumab plus nivolumab. The patient experienced rapid symptomatic and radiographic improvement after treatment initiation. She subsequently developed immune-related sarcoidosis, which resolved after discontinuation of immunotherapy and with corticosteroids. Given sustained disease control, she underwent delayed nephrectomy demonstrating complete pathologic response in the primary tumor. Genomic analysis revealed a germline mutation in FLCN consistent with Birt-Hogg-Dubé syndrome. T-cell receptor sequencing identified a shared expanded T-cell clone in peripheral blood and within the tumor. With extended follow-up for over 5 years, she remains in durable remission after dual immune checkpoint blockade. To our knowledge, this is the first report of dual immune checkpoint blockade in renal E-AML. This case demonstrates that first-line ipilimumab plus nivolumab can induce deep, durable response-including complete pathologic response-in a rare malignancy with limited standard treatment options, supporting further evaluation of immunotherapy in this disease.
2026-03-07 | Sarcomatoid Renal Cell Carcinoma: Biological Features and Therapeutic Implications—A Narrative Review
PURPOSE OF THE REVIEW: This review underscores the importance of recognizing sarcomatoid features in renal cell carcinoma, as this component significantly impacts prognosis and treatment strategies. RECENT FINDINGS: Sarcomatoid renal cell carcinoma (sRCC) is a rare and aggressive form of renal cancer characterized by poor prognosis and distinct biological features. Despite its clinical significance, there remains a knowledge gap regarding the comprehensive understanding of its molecular and therapeutic landscape. Recent studies provided an extensive overview of the clinical, pathological, and molecular characteristics of sRCC, highlighting its unique genomic alterations and immune profile. Notably, sRCC exhibits a highly inflamed tumor microenvironment, which correlates with increased responsiveness to immune checkpoint inhibitors. Our findings suggest that integrating immunotherapy into the management of sRCC could enhance patient outcomes, paving the way for future research and clinical applications in this challenging cancer subtype.
2025-11-02 | mTOR ‐mediated upregulation of B7 ‐ H3 in MiT / TFE translocation renal cell carcinoma
Abstract Clinical trials targeting B7‐H3 ( CD276 ), a membranous immunomodulatory molecule in the B7 superfamily, have shown promise in prostate cancer and may be expanded to additional tumor types with high expression, such as those with mTOR signaling activation. MiT/TFE‐rearranged translocation renal cell carcinoma (tRCC) is a rare, aggressive subtype that is relatively immune‐depleted, with high levels of mTOR activity. Thus, we assessed B7‐H3 expression in preclinical tRCC models and human tRCC samples. As hypothesized, we found that induction of TFE3 fusion proteins, including SFPQ‐TFE3, PRCC‐TFE3, ASPSCR1‐TFE3, and NONO‐TFE3, is associated with upregulation of B7‐H3 in multiple human preclinical tRCC cell line systems and transgenic mouse models. Pharmacologic or genetic inhibition of mTOR signaling is sufficient to downregulate B7‐H3 expression in inducible and patient‐derived, human cell line models of tRCC. In keeping with these preclinical results, human tRCC demonstrated significantly higher gene expression of CD276 than normal kidney, across five of the six fusions studied. At the protein level, tRCC had higher tumor cell B7‐H3 intensity and proportion scores than normal kidney or clear cell RCC (ccRCC). B7‐H3 expression in tumor vasculature was similar in tRCC and ccRCC, both of which showed significantly higher expression than normal kidney. Within tRCC cases, higher CD276 expression was observed in metastatic compared to localized tumors and was associated with lower tumoral CD4 + T‐cell content by bulk RNAseq deconvolution. Taken together, tRCC fusion proteins upregulate B7‐H3 expression via increased mTOR signaling, resulting in a higher tumoral B7‐H3 expression compared to normal kidney or conventional RCC, suggesting that B7‐H3 may be a promising therapeutic target in tRCC. © 2025 The Pathological Society of Great Britain and Ireland.
2025-10-30 | Identification of therapeutic targets for renal medullary carcinoma via integrated genomic and transcriptomic profiling
Renal medullary carcinoma (RMC) is a rare but highly aggressive kidney cancer that resists conventional therapies. To identify therapeutic targets, this study employs histopathologic, genomic, and transcriptomic profiling of 25 RMC samples. TROP2, EPCAM, CLDN6, and CDH6 are significantly overexpressed compared with other renal and solid tumors. Pathway analyses indicate Hippo pathway upregulation and a tumor microenvironment rich in fibroblasts and neutrophils. We subsequently explore treatment of four heavily pretreated patients, all with high TROP2 expression, using sacituzumab govitecan, a TROP2-targeted antibody-drug conjugate. Of these four patients, one patient achieves a partial response with symptom improvement, two patients maintain stable disease, and the median progression-free survival reaches 2.9 months. This study represents the most extensive molecular characterization of RMC to date, identifying TROP2 and other potential therapeutic targets. Sacituzumab govitecan demonstrates potential clinical benefit, warranting further evaluation in prospective trials to confirm its efficacy and explore additional targets identified herein.
2025-07-25 | Diagnosis and Management of Upper Tract Urothelial Carcinoma: A Review
Background/Objectives: Upper tract urothelial carcinoma (UTUC) is a rare and biologically distinct subset of urothelial malignancies, comprising approximately 5-10% of urothelial cancers. UTUC presents unique diagnostic and therapeutic challenges, with both a higher likelihood of invasive disease at presentation and a less favorable prognosis compared to urothelial carcinoma of the bladder. Current treatment strategies for UTUC are largely derived from bladder cancer studies, underscoring the need for UTUC-directed research. This review provides a comprehensive overview of UTUC, encompassing diagnostic approaches, systemic and intraluminal therapies, surgical management, and future directions. Methods: A narrative review was conducted synthesizing evidence from guideline-based recommendations, retrospective and prospective clinical studies, and ongoing trials focused on UTUC. Results: Neoadjuvant cisplatin-based chemotherapy is increasingly preferred in UTUC due to the risk of postoperative renal impairment that may preclude adjuvant cisplatin use. Surgical management includes kidney-sparing approaches and radical nephroureterectomy (RNU), with selection guided by tumor risk and patient comorbidities. While endoscopic management (EM) preserves renal function, it carries a higher recurrence and surveillance burden; RNU remains standard for high-risk cases. Systemic therapy for advanced and metastatic UTUC mirrors that of bladder urothelial carcinoma. Enfortumab vedotin (EV) plus pembrolizumab showed superior efficacy over chemotherapy in the EV-302 trial, with improved response rate, progression-free survival, and overall survival across subgroups, including UTUC. For patients ineligible for EV, the CheckMate-901 study supported first-line chemoimmunotherapy with gemcitabine, cisplatin, and nivolumab. Further systemic therapy strategies include maintenance avelumab post-chemotherapy (JAVELIN Bladder 100), targeted therapies such as erdafitinib (THOR trial), and trastuzumab deruxtecan (DESTINY-PanTumor02) in FGFR2/3-altered and HER2-positive disease, respectively. Conclusions: Historically, the therapeutic landscape of UTUC has been extrapolated from bladder cancer; however, ongoing research specific to UTUC is deriving more precise regimens involving the use of immune checkpoint inhibitors, antibody-drug conjugates, and biomarker-driven therapies.
proteins
2024-10-01 | 8120 Effective Management of Neonatal Hypercalcemia in Congenital Mesoblastic Nephroma: A Case Report on the Use of Calcitonin
Abstract Disclosure: C.S. Galvez: None. K. Rifai: None. C. Moorthy: None. S. Chheda: None. M. Zerah: None. Introduction: Pediatric patients with hypercalcemia of malignancy are typically treated with hyperhydration, loop diuretics and bisphosphonates. Calcitonin, a peptide functionally antagonizes the effects of PTH. Calcitonin has limited pharmacokinetic data in neonates, especially those with Congenital Mesoblastic Nephroma (CMN), making treatment challenging with unclear safety and efficacy parameters. We present the fourth published case describing the use of calcitonin for likely PTH-rP-mediated severe hypercalcemia in a neonate with CMN. Clinical Case: A 15-day-old late preterm male, presented with lethargy, poor feeds, severe failure to thrive and a large abdominal mass. The mother is a G4P4, with good prenatal care. On admission, the patient was hypertensive (138/84 mmHg) and appeared dehydrated. Physical examination revealed a firm mass in the right abdomen crossing the midline. Serum calcium levels were 13.5 mg/dL (normal 9.0-10.9 mg/dL), with an ionized calcium 1.71 mmol/L (normal 1.15 and 1.30 mmol/L). Abdominal ultrasound showed a large, 9.1 x 8 cm dominant solid right renal mass, most likely CMN, with left-sided medullary nephrocalcinosis. Cardiac Echo and EKG were within normal limits. The patient received hydration, nicardipine (titrated to decrease blood pressure by 10-15 mmHg per day) and furosemide at 1 mg/kg/day IV q6h. Due to the persistence of hypercalcemia after 24 hours of treatment (14.7 mg/dL serum calcium with ionize of 1.81 mmol/L), the patient received one dose of calcitonin (4 units/kg subcutaneously), resulting in a decrease in serum calcium to 11.5 mg/dL in 4 hours. The patient underwent a successful radical right uretero-nephrectomy, with post-surgery improvement of neurological, cardiovascular and electrolyte status. Unfortunately, PTH-rP sample was insufficient. Pathology reported CMN of the cellular type. CMN is a rare tumor with low malignant potential, representing approximately 3% of all pediatric renal tumors. It is the most common renal neoplasm diagnosed in the first 6 months of life. The most common symptom is an abdominal mass (76%), with hypertension (19%). Hypercalcemia was reported in only 4% which can be secondary to paraneoplastic secretion of PTH or PTH-rP. Conclusion: This case represents the fourth instance of calcitonin use in a neonate with CMN to manage persistent hypercalcemia. Subcutaneous administration of calcitonin at 4 units/kg proved effective with a short onset of action (within 2 hours) and duration of 6 to 8 hours, making it a viable alternative to bisphosphonates (action around 48 hours and duration of 7 to 14 days). Calcitonin's advantages include less significant side effects and a faster resolution of complications like "Hungry bone Syndrome." The flexibility of repeated dosing every 6 hours, with the option to increase the dose, if necessary, adds to its clinical utility. Presentation: 6/3/2024
other
2025-12-01 | Extrachromosomal circular miRNA-gene amplifications contribute to the renal cancer phenotype
Megabase-sized extrachromosomal circular DNA with intact oncogenes (ecDNA) plays crucial roles in cancer. However, the impact of smaller (100 bp-1 Mb), more ubiquitous extrachromosomal circular DNA (eccDNA) on tumor pathology is unclear. We analyze eccDNA from 122 renal tumors and adjacent tissues, finding increased eccDNA in late-stage cancers, correlating with heightened patient mortality and copy-number amplification. Large eccDNAs are rare, and smaller eccDNAs predominate. The microRNA (miRNA) genes MIR107, MIR196a, MIR495, and MIR519 are recurrently found on eccDNA, almost exclusively in tumors, and patients with any one of these exhibited shorter progression-free survival. Synthetic eccDNAs with these MIR genes increase cancer cell proliferation in 786-O cells, suggesting oncogenic potential. Additionally, we found eccDNA carrying full protein-coding genes that are overexpressed in transcriptional analyses. Our findings suggest that small eccDNAs with miRNA genes are functional and contribute to the tumorigenesis of renal cell carcinoma.
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