RARE DISEASE
Vaginal carcinoma
Vaginal carcinoma
Vaginal carcinoma
Synonyms: Vaginal malignant epithelial tumor
Synonyms: Vaginal malignant epithelial tumor
Synonyms: Vaginal malignant epithelial tumor
Drug discovery
0
drugs
With orphan designations
Overview
Vaginal carcinoma is a rare gynecologic malignancy, representing 1-2% of female genital tract cancers. Most cases are squamous cell carcinomas linked to HPV, while adenocarcinomas and sarcomas are less common. Presenting symptoms include abnormal bleeding, discharge, or pelvic pain. Diagnosis involves biopsy and imaging (MRI/CT) for staging. Treatment depends on stage and location, combining radiotherapy (primary modality), surgery (early-stage lesions), and chemotherapy. Prognosis correlates with stage, with 5-year survival exceeding 70% for localized disease but declining sharply with advanced/metastatic spread [1][2][5][16].
Burden
Global annual incidence: ~17,500 cases (0.7/100,000), with 5-year survival <50% for regional disease [9][14][19].
Disparities: Black women face 72% higher mortality vs. white women due to late-stage diagnoses [7][9][12].
Treatment toxicity: 30-40% risk of vaginal stenosis, fistula, or sexual dysfunction post-radiation [3][6][13].
Therapies
Radiation: Primary treatment (brachytherapy ± external beam), achieving 80-90% control for stage I [3][6][8].
Surgery: Reserved for small, localized tumors (vaginectomy) or salvage post-radiation [6][13][18].
Chemoradiation: Cisplatin-based regimens for advanced stages or nodal involvement [3][6][8].
Categories: rare gynecological and obstetric diseases, rare neoplastic diseases
Research Papers
470 drug discovery papers about Vaginal carcinoma, with 1 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
470 drug discovery papers about Vaginal carcinoma, with 1 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-06 | Human Papillomavirus Infection in Patients With VaIN and Vaginal Cancer: A Retrospective Cross-Sectional Study.
Vaginal cancer is a rare malignancy, and the research on it is not comprehensive yet. To explore the characteristics of human papillomavirus (HPV) infection in patients with vaginal intraepithelial neoplasia (VaIN) and vaginal cancer. This study included patients who underwent colposcopy and biopsy of suspected sites at the Second Hospital of Shanxi Medical University from January 2014 to December 2023 due to abnormal cytology results and/or positive HPV test. Those diagnosed with benign inflammatory reaction of the vagina (ie, vaginitis), VaIN and vaginal cancer according to histologic results were selected as the study objects. Clinical data such as age, menopause, clinical manifestations and previous screening history were collected. We aimed to analyze the distribution and characteristics of HPV in VaIN and vaginal cancer patients. A total of 5,180 patients were included in this study. Of the total, 2,739 patients had VaIN1, 641 had VaIN2/3, and 251 had vaginal cancer. There were 235 patients with vaginal squamous cell carcinoma (VaSCC) and 16 patients with vaginal adenocarcinoma. A total of 4,548 patients were infected with HPV. The HPV positive rate was 95.5% in VaIN2/3, 86.0% in VaSCC and 43.8% in adenocarcinoma of the vagina. The most common 5 HPV types were HPV16, 52, 58, 53, and 18. The positive rate of HPV18 in the adenocarcinoma of the vagina was the highest. HPV16, 52, 58, 53, and 18 are the predominant genotypes in VaIN and vaginal cancer in Shanxi, China. HPV testing provides additional benefits for the detection of vaginal lesions during cervical cancer screening. Active HPV vaccination may help reduce the burden of these lesions.
2026-05-28 | Beyond extrapolation: Immunotherapy outcomes in recurrent vulvovaginal carcinoma.
To evaluate the efficacy, survival outcomes, and toxicity of immune checkpoint inhibitors (ICI) in patients with recurrent vulvar and vaginal carcinomas (VVC). This retrospective cohort study included patients with recurrent VVC treated with ICI at a single tertiary care center between August 2016 and September 2025. Treatment response was assessed using RECIST 1.1 criteria. Objective response rate (ORR), duration of response (DOR), progression-free survival (PFS) and overall survival (OS) were evaluated. Survival outcomes were estimated using the Kaplan-Meier method. Twenty-one patients with recurrent VVC received ICI therapy, with a median age of 73.0 years (IQR, 62.4-77.9); 17 were evaluable for response. PD-L1 expression was positive (CPS ≥1) in 85.7% (n = 18). Pembrolizumab was the most administered ICI (76.2%, 16/21), and most patients received ICI monotherapy (66.7%, 14/21). The median number of ICI cycles was 4 (IQR, 2-6). The ORR was 29.4% (n = 5) with a median DOR of 14.0 months (IQR, 4.97-16.0). Median PFS was 3.0 months (95% CI 1.9-3.4) and median OS was 4.6 months (95% CI 3.7-8.5). Median PFS was 3.1 months for patients receiving combination therapy and 2.5 months for those receiving monotherapy (p = 0.50). Immune-related adverse events occurred in 38.1% (n = 8), including grade ≥ 3 events in 19.0% (n = 4). Disease progression was the most common reason for treatment discontinuation (57.1%, n = 12). ICI demonstrated modest activity in recurrent VVC, with durable responses observed in a small subset of patients. Although survival outcomes were limited overall, ICI therapy may provide meaningful benefit for select patients.
2026-05-08 | Genomic Profiling of Primary Vaginal Tumors: Molecular Landscape, Clinical Significance, and Future Directions
Squamous cell carcinoma (SCC) is the most common histological subtype of primary vaginal cancer, a rare gynaecologic disease that accounts for fewer than 2% of female genital tract cancers. Because it is uncommon, therapeutic approaches are frequently generalised from vulvar and cervical malignancies, which restricts individualised treatment plans. Recent advancements in multi-omics and next-generation sequencing (NGS) technologies have made it possible to profile the genomes of primary vaginal tumours, revealing their molecular heterogeneity and finding useful mutations. The genomic landscape of primary vaginal tumours is reviewed in this study, with an emphasis on important genetic changes, molecular markers linked to HPV, and clinically significant pathways. To find recurring mutations, copy number variations, and pathway-level disruptions, a methodical research approach was used by analysing recent genomic publications, cancer genome archives, and clinical sequencing reports. To show the frequency of mutations like TP53, PIK3CA, PTEN, CDKN2A, KRAS, and changes in EGFR and TERT, data were collated. Different molecular characteristics, such as viral-driven oncogenesis vs genomic instability and p53 disruption, are revealed by comparing the profiles of HPV-positive and HPV-negative tumours. Prognostic stratification, immunotherapy biomarkers, and targeted therapeutics are all considered in regard to the clinical consequences of genetic profiling.Challenges such as small cohort sizes, tumor heterogeneity, and limited clinical trial evidence remain barriers to translation. Future perspectives emphasize integrated transcriptomics, liquid biopsy monitoring, and AI-driven precision oncology. Genomic profiling offers a transformative approach for improving diagnosis, prognostic prediction, and biomarker-guided therapy in vaginal cancer.
2026-01-30 | Efficacy and safety of photodynamic therapy for vaginal intraepithelial neoplasia: A systematic review and meta-analysis.
Vaginal Intraepithelial Neoplasia (VaIN) is a precancerous condition that can progress to vaginal cancer if untreated. Photodynamic Therapy (PDT), recognized for its minimally invasive nature and favorable side effect profile, is increasingly employed for VaIN treatment; however, comprehensive evidence synthesis on its efficacy and safety remains limited. This study aims to comprehensively evaluate the efficacy and safety of 5-aminolevulinic acid-mediated photodynamic therapy (ALA-PDT) in treating VaIN. We systematically searched PubMed, Embase, Web of Science, and Cochrane Library databases for studies evaluating PDT efficacy in VaIN. Primary outcomes were complete response (CR) rate and HPV clearance rate; secondary outcomes included recurrence rate and adverse events (AE). Meta-analysis was performed using Stata 18.0. Nine trials (421 patients) were included. Pooled outcomes: 6-month CR:87% (95% CI: 78%-94%), 12-month CR:84% (95% CI:76%-91%); 6-month HPV clearance:61% (95% CI:55%-66%), 12-month:73% (95% CI:67%-78%); 6-month HPV16/18 clearance:71% (95% CI:61%-80%), 12-month:76% (95% CI:63%-88%); 6-month recurrence:4% (95% CI:2%-8%), 12-month:7% (95% CI:0%-24%); AEs: Increased vaginal discharge (20%, 95% CI: 8%-36%), itching (25%, 95% CI: 1%-62%), burning sensation (23%, 95% CI: 1%-57%), abdominal pain (7%, 95% CI: 0%-21%), and mild vaginal bleeding (0%, 95% CI: 0%-3%). No serious AEs. ALA-PDT demonstrates high efficacy and favorable safety in treating VaIN. However, as current evidence primarily stems from single-arm studies, future high-quality multicenter randomized controlled trials are essential to confirm these findings and directly compare ALA-PDT with standard therapies.
2026-01-20 | A Labial Mass Demonstrated With Sonography and MRI Diagnostic Correlation
Vaginal and labial masses are uncommon and can have a wide range of differentials, both benign and malignant. Included in these masses are hemangiomas, papillomas, mucosal polyps, leiomyomas, and carcinomas. A case report is presented of a patient with a history of surgically treated squamous cell carcinoma, of the vaginal wall, who returned years later with a new palpable labial mass. The initial sonogram pertaining to the new palpable lump showed what was believed may be an irregular, hypoechoic structure, with internal vascularity. A second sonogram conducted several weeks later, in the same region, revealed different findings. The same area imaged several weeks earlier, reevaluated with sonography, demonstrated an ovoid-shaped complex fluid collection with an irregular margin. It contained multiple lacy septa and reflections, without evidence of internal arterial or venous flow. The mass was suspected to be a probable hematoma; however, a magnetic resonance imaging examination was conducted a few days later and the results characterized the mass as a seroma.
2026-07-06 | Human Papillomavirus Infection in Patients With VaIN and Vaginal Cancer: A Retrospective Cross-Sectional Study.
Vaginal cancer is a rare malignancy, and the research on it is not comprehensive yet. To explore the characteristics of human papillomavirus (HPV) infection in patients with vaginal intraepithelial neoplasia (VaIN) and vaginal cancer. This study included patients who underwent colposcopy and biopsy of suspected sites at the Second Hospital of Shanxi Medical University from January 2014 to December 2023 due to abnormal cytology results and/or positive HPV test. Those diagnosed with benign inflammatory reaction of the vagina (ie, vaginitis), VaIN and vaginal cancer according to histologic results were selected as the study objects. Clinical data such as age, menopause, clinical manifestations and previous screening history were collected. We aimed to analyze the distribution and characteristics of HPV in VaIN and vaginal cancer patients. A total of 5,180 patients were included in this study. Of the total, 2,739 patients had VaIN1, 641 had VaIN2/3, and 251 had vaginal cancer. There were 235 patients with vaginal squamous cell carcinoma (VaSCC) and 16 patients with vaginal adenocarcinoma. A total of 4,548 patients were infected with HPV. The HPV positive rate was 95.5% in VaIN2/3, 86.0% in VaSCC and 43.8% in adenocarcinoma of the vagina. The most common 5 HPV types were HPV16, 52, 58, 53, and 18. The positive rate of HPV18 in the adenocarcinoma of the vagina was the highest. HPV16, 52, 58, 53, and 18 are the predominant genotypes in VaIN and vaginal cancer in Shanxi, China. HPV testing provides additional benefits for the detection of vaginal lesions during cervical cancer screening. Active HPV vaccination may help reduce the burden of these lesions.
2026-05-28 | Beyond extrapolation: Immunotherapy outcomes in recurrent vulvovaginal carcinoma.
To evaluate the efficacy, survival outcomes, and toxicity of immune checkpoint inhibitors (ICI) in patients with recurrent vulvar and vaginal carcinomas (VVC). This retrospective cohort study included patients with recurrent VVC treated with ICI at a single tertiary care center between August 2016 and September 2025. Treatment response was assessed using RECIST 1.1 criteria. Objective response rate (ORR), duration of response (DOR), progression-free survival (PFS) and overall survival (OS) were evaluated. Survival outcomes were estimated using the Kaplan-Meier method. Twenty-one patients with recurrent VVC received ICI therapy, with a median age of 73.0 years (IQR, 62.4-77.9); 17 were evaluable for response. PD-L1 expression was positive (CPS ≥1) in 85.7% (n = 18). Pembrolizumab was the most administered ICI (76.2%, 16/21), and most patients received ICI monotherapy (66.7%, 14/21). The median number of ICI cycles was 4 (IQR, 2-6). The ORR was 29.4% (n = 5) with a median DOR of 14.0 months (IQR, 4.97-16.0). Median PFS was 3.0 months (95% CI 1.9-3.4) and median OS was 4.6 months (95% CI 3.7-8.5). Median PFS was 3.1 months for patients receiving combination therapy and 2.5 months for those receiving monotherapy (p = 0.50). Immune-related adverse events occurred in 38.1% (n = 8), including grade ≥ 3 events in 19.0% (n = 4). Disease progression was the most common reason for treatment discontinuation (57.1%, n = 12). ICI demonstrated modest activity in recurrent VVC, with durable responses observed in a small subset of patients. Although survival outcomes were limited overall, ICI therapy may provide meaningful benefit for select patients.
2026-05-08 | Genomic Profiling of Primary Vaginal Tumors: Molecular Landscape, Clinical Significance, and Future Directions
Squamous cell carcinoma (SCC) is the most common histological subtype of primary vaginal cancer, a rare gynaecologic disease that accounts for fewer than 2% of female genital tract cancers. Because it is uncommon, therapeutic approaches are frequently generalised from vulvar and cervical malignancies, which restricts individualised treatment plans. Recent advancements in multi-omics and next-generation sequencing (NGS) technologies have made it possible to profile the genomes of primary vaginal tumours, revealing their molecular heterogeneity and finding useful mutations. The genomic landscape of primary vaginal tumours is reviewed in this study, with an emphasis on important genetic changes, molecular markers linked to HPV, and clinically significant pathways. To find recurring mutations, copy number variations, and pathway-level disruptions, a methodical research approach was used by analysing recent genomic publications, cancer genome archives, and clinical sequencing reports. To show the frequency of mutations like TP53, PIK3CA, PTEN, CDKN2A, KRAS, and changes in EGFR and TERT, data were collated. Different molecular characteristics, such as viral-driven oncogenesis vs genomic instability and p53 disruption, are revealed by comparing the profiles of HPV-positive and HPV-negative tumours. Prognostic stratification, immunotherapy biomarkers, and targeted therapeutics are all considered in regard to the clinical consequences of genetic profiling.Challenges such as small cohort sizes, tumor heterogeneity, and limited clinical trial evidence remain barriers to translation. Future perspectives emphasize integrated transcriptomics, liquid biopsy monitoring, and AI-driven precision oncology. Genomic profiling offers a transformative approach for improving diagnosis, prognostic prediction, and biomarker-guided therapy in vaginal cancer.
2026-01-30 | Efficacy and safety of photodynamic therapy for vaginal intraepithelial neoplasia: A systematic review and meta-analysis.
Vaginal Intraepithelial Neoplasia (VaIN) is a precancerous condition that can progress to vaginal cancer if untreated. Photodynamic Therapy (PDT), recognized for its minimally invasive nature and favorable side effect profile, is increasingly employed for VaIN treatment; however, comprehensive evidence synthesis on its efficacy and safety remains limited. This study aims to comprehensively evaluate the efficacy and safety of 5-aminolevulinic acid-mediated photodynamic therapy (ALA-PDT) in treating VaIN. We systematically searched PubMed, Embase, Web of Science, and Cochrane Library databases for studies evaluating PDT efficacy in VaIN. Primary outcomes were complete response (CR) rate and HPV clearance rate; secondary outcomes included recurrence rate and adverse events (AE). Meta-analysis was performed using Stata 18.0. Nine trials (421 patients) were included. Pooled outcomes: 6-month CR:87% (95% CI: 78%-94%), 12-month CR:84% (95% CI:76%-91%); 6-month HPV clearance:61% (95% CI:55%-66%), 12-month:73% (95% CI:67%-78%); 6-month HPV16/18 clearance:71% (95% CI:61%-80%), 12-month:76% (95% CI:63%-88%); 6-month recurrence:4% (95% CI:2%-8%), 12-month:7% (95% CI:0%-24%); AEs: Increased vaginal discharge (20%, 95% CI: 8%-36%), itching (25%, 95% CI: 1%-62%), burning sensation (23%, 95% CI: 1%-57%), abdominal pain (7%, 95% CI: 0%-21%), and mild vaginal bleeding (0%, 95% CI: 0%-3%). No serious AEs. ALA-PDT demonstrates high efficacy and favorable safety in treating VaIN. However, as current evidence primarily stems from single-arm studies, future high-quality multicenter randomized controlled trials are essential to confirm these findings and directly compare ALA-PDT with standard therapies.
2026-01-20 | A Labial Mass Demonstrated With Sonography and MRI Diagnostic Correlation
Vaginal and labial masses are uncommon and can have a wide range of differentials, both benign and malignant. Included in these masses are hemangiomas, papillomas, mucosal polyps, leiomyomas, and carcinomas. A case report is presented of a patient with a history of surgically treated squamous cell carcinoma, of the vaginal wall, who returned years later with a new palpable labial mass. The initial sonogram pertaining to the new palpable lump showed what was believed may be an irregular, hypoechoic structure, with internal vascularity. A second sonogram conducted several weeks later, in the same region, revealed different findings. The same area imaged several weeks earlier, reevaluated with sonography, demonstrated an ovoid-shaped complex fluid collection with an irregular margin. It contained multiple lacy septa and reflections, without evidence of internal arterial or venous flow. The mass was suspected to be a probable hematoma; however, a magnetic resonance imaging examination was conducted a few days later and the results characterized the mass as a seroma.
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0 orphan drug designations.
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