RARE DISEASE
Yolk sac tumor
Yolk sac tumor
Yolk sac tumor
Synonyms: Endodermal sinus tumor
Synonyms: Endodermal sinus tumor
Synonyms: Endodermal sinus tumor
Drug discovery
1
drug
With orphan designation
Overview
Yolk sac tumor (YST) is a rare, aggressive germ cell malignancy arising from pluripotent cells, most commonly in gonads (ovaries/testes) or extragonadal sites (mediastinum, liver). It predominantly affects children and young adults, with elevated serum AFP serving as a key diagnostic marker. Treatment combines fertility-sparing surgery (where feasible) and cisplatin-based chemotherapy (BEP regimen), achieving >90% 5-year survival in early stages. Advanced disease carries poorer outcomes (51–71% survival) [7][19][11].
Burden
Aggressive biology: Rapid growth, early metastasis (62% lymph nodes, 41% lungs) [1][9].
Stage-dependent survival: 94.8% 5-year survival for stage I vs. 51.6% for stage IV [19][9].
Treatment toxicity: BEP chemotherapy risks pulmonary/renal toxicity and infertility [11][18]. Fertility preservation is prioritized in 58% of ovarian YST cases [19][13].
Therapies
Fertility-sparing surgery (e.g., unilateral oophorectomy) + BEP chemotherapy (bleomycin, etoposide, cisplatin) [1][3][19].
Neoadjuvant chemotherapy for bulky/advanced tumors to enable less invasive resection [3][5][16].
Post-treatment surveillance: serial AFP monitoring and imaging to detect recurrence [11][13].
Categories: rare neoplastic diseases, rare transplant-related disorders
Research Papers
833 drug discovery papers about Yolk sac tumor, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
833 drug discovery papers about Yolk sac tumor, with 2 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-09 | Laparoscopic Surgery for Pediatric Malignant Ovarian Germ Cell Tumors After Neoadjuvant Chemotherapy: A Single-Center Retrospective Study
Purpose: The purpose of this study was to evaluate the clinical effects and safety for cancer treatment of neoadjuvant chemotherapy (NACT) when combined with laparoscopic fertility-sparing (anatomical preservation) surgery in pediatric patients who have large malignant ovarian germ cell tumors (MOGCTs). Methods: We performed a retrospective analysis on seven young female patients with a median age of 8.8 years (range: 10 months to 13.4 years). The patients were treated between 2015 and 2023, and all of them received two to three cycles of JEB (carboplatin, etoposide, and bleomycin) regimen as NACT. After the NACT, these patients had laparoscopic (n = 7) unilateral salpingo-oophorectomy. Results: Neoadjuvant chemotherapy (NACT) achieved a median reduction in tumor volume of 91% (range: 85% to 97%). All the procedures were completed successfully and there was no need to convert to open surgery. The median operative time was 85 min (range: 70 to 120 min), and the blood loss was minimal. The median blood loss was 10 mL, with a range of 5 to 50 mL. In patients with yolk sac tumors, alpha-fetoprotein (AFP) levels returned to normal within a median of 20 days after the operation. With a median follow-up of 54 months (range: 18 to 118 months), all the patients had 100% disease-free survival. Conclusions: This study suggests that NACT combined with laparoscopic fertility-sparing (anatomical preservation) surgery may be effective and appears promising for selected pediatric patients with MOGCTs.
2026-06-22 | Primary Yolk Sac Tumor of the Endometrium: A Case Report and Comprehensive Literature Review.
Yolk sac tumor (YST) of the endometrium is very rare, with fewer than 40 cases reported in the English literature. We here describe a case of primary endometrial YST and discuss the clinicopathological features with a literature review. A 66-year-old Chinese woman presented with abnormal vaginal bleeding for 15 days and a uterine mass for 3 days. The preoperative alpha-fetoprotein (AFP) level was 9652.0 ng/mL, while other serum tumor markers, including carcinoembryonic antigen (CEA), neuron-specific enolase (NSE), and β-human chorionic gonadotropin (β-HCG), were 40.2 ng/mL, 29.19 ng/mL, and 27.7 mIU/mL, respectively. Pelvic ultrasound imaging revealed a 7.1 × 6.6 × 6.0 cm mass in the endometrial cavity. The patient underwent total abdominal hysterectomy, salpingo-oophorectomy, and partial omental resection. The morphologic and immunohistochemical pattern (cytokeratin+++, Sal-Like Protein 4+++, AFP++, Focal Hepatocyte Nuclear Factor 1 beta+, and Focal Glypican-3+) was consistent with a primary YST of the endometrium, and the final pathologic stage was IVb based on the International Federation of Gynecology and Obstetrics (FIGO) staging. Postoperative serum AFP level was 5193.0 ng/mL 5 days after the operation. Primary endometrial YST is extremely rare. It should be differentially diagnosed from other uterine malignancies. Complete surgical staging combined with chemotherapy may have a better survival impact on endometrial YST.
2026-06-19 | Hemorrhagic Brain Tumor As the Initial Presentation of Metastatic Testicular Yolk Sac Tumor: A Case Report and Review of the Literature.
Yolk sac tumors (YSTs) are highly malignant germ cell neoplasms, most commonly arising in the gonads. Intracranial involvement is exceptionally rare and typically affects the pineal or suprasellar regions. Metastatic YST presenting as a hemorrhagic brain lesion is an exceedingly unusual occurrence that poses significant diagnostic and therapeutic challenges. We report the case of a 26-year-old male who presented with rapidly progressive left-sided weakness and headache. Imaging revealed a right frontoparietal hemorrhagic mass with marked vasogenic edema and midline shift. The patient underwent urgent right frontal craniotomy and near-total tumor excision via a transsulcal approach. Postoperatively, neurological recovery was rapid, with near-complete motor improvement within days. Systemic evaluation revealed multiple pulmonary and para-aortic metastases and an enlarged right testis. Serum α-fetoprotein (AFP) was markedly elevated, and histopathological examination confirmed the diagnosis of YST. The patient received adjuvant chemotherapy, followed by radical orchidectomy and lymph node dissection, achieving normalization of AFP and full functional recovery at one year of follow-up. This case underscores the importance of considering germ cell tumors in the differential diagnosis of hemorrhagic brain lesions, particularly in young males. Early surgical intervention, combined with systemic chemotherapy, can lead to favorable neurological and oncologic outcomes even in such rare and aggressive presentations.
2026-07-09 | Laparoscopic Surgery for Pediatric Malignant Ovarian Germ Cell Tumors After Neoadjuvant Chemotherapy: A Single-Center Retrospective Study
Purpose: The purpose of this study was to evaluate the clinical effects and safety for cancer treatment of neoadjuvant chemotherapy (NACT) when combined with laparoscopic fertility-sparing (anatomical preservation) surgery in pediatric patients who have large malignant ovarian germ cell tumors (MOGCTs). Methods: We performed a retrospective analysis on seven young female patients with a median age of 8.8 years (range: 10 months to 13.4 years). The patients were treated between 2015 and 2023, and all of them received two to three cycles of JEB (carboplatin, etoposide, and bleomycin) regimen as NACT. After the NACT, these patients had laparoscopic (n = 7) unilateral salpingo-oophorectomy. Results: Neoadjuvant chemotherapy (NACT) achieved a median reduction in tumor volume of 91% (range: 85% to 97%). All the procedures were completed successfully and there was no need to convert to open surgery. The median operative time was 85 min (range: 70 to 120 min), and the blood loss was minimal. The median blood loss was 10 mL, with a range of 5 to 50 mL. In patients with yolk sac tumors, alpha-fetoprotein (AFP) levels returned to normal within a median of 20 days after the operation. With a median follow-up of 54 months (range: 18 to 118 months), all the patients had 100% disease-free survival. Conclusions: This study suggests that NACT combined with laparoscopic fertility-sparing (anatomical preservation) surgery may be effective and appears promising for selected pediatric patients with MOGCTs.
2026-06-22 | Primary Yolk Sac Tumor of the Endometrium: A Case Report and Comprehensive Literature Review.
Yolk sac tumor (YST) of the endometrium is very rare, with fewer than 40 cases reported in the English literature. We here describe a case of primary endometrial YST and discuss the clinicopathological features with a literature review. A 66-year-old Chinese woman presented with abnormal vaginal bleeding for 15 days and a uterine mass for 3 days. The preoperative alpha-fetoprotein (AFP) level was 9652.0 ng/mL, while other serum tumor markers, including carcinoembryonic antigen (CEA), neuron-specific enolase (NSE), and β-human chorionic gonadotropin (β-HCG), were 40.2 ng/mL, 29.19 ng/mL, and 27.7 mIU/mL, respectively. Pelvic ultrasound imaging revealed a 7.1 × 6.6 × 6.0 cm mass in the endometrial cavity. The patient underwent total abdominal hysterectomy, salpingo-oophorectomy, and partial omental resection. The morphologic and immunohistochemical pattern (cytokeratin+++, Sal-Like Protein 4+++, AFP++, Focal Hepatocyte Nuclear Factor 1 beta+, and Focal Glypican-3+) was consistent with a primary YST of the endometrium, and the final pathologic stage was IVb based on the International Federation of Gynecology and Obstetrics (FIGO) staging. Postoperative serum AFP level was 5193.0 ng/mL 5 days after the operation. Primary endometrial YST is extremely rare. It should be differentially diagnosed from other uterine malignancies. Complete surgical staging combined with chemotherapy may have a better survival impact on endometrial YST.
2026-06-19 | Hemorrhagic Brain Tumor As the Initial Presentation of Metastatic Testicular Yolk Sac Tumor: A Case Report and Review of the Literature.
Yolk sac tumors (YSTs) are highly malignant germ cell neoplasms, most commonly arising in the gonads. Intracranial involvement is exceptionally rare and typically affects the pineal or suprasellar regions. Metastatic YST presenting as a hemorrhagic brain lesion is an exceedingly unusual occurrence that poses significant diagnostic and therapeutic challenges. We report the case of a 26-year-old male who presented with rapidly progressive left-sided weakness and headache. Imaging revealed a right frontoparietal hemorrhagic mass with marked vasogenic edema and midline shift. The patient underwent urgent right frontal craniotomy and near-total tumor excision via a transsulcal approach. Postoperatively, neurological recovery was rapid, with near-complete motor improvement within days. Systemic evaluation revealed multiple pulmonary and para-aortic metastases and an enlarged right testis. Serum α-fetoprotein (AFP) was markedly elevated, and histopathological examination confirmed the diagnosis of YST. The patient received adjuvant chemotherapy, followed by radical orchidectomy and lymph node dissection, achieving normalization of AFP and full functional recovery at one year of follow-up. This case underscores the importance of considering germ cell tumors in the differential diagnosis of hemorrhagic brain lesions, particularly in young males. Early surgical intervention, combined with systemic chemotherapy, can lead to favorable neurological and oncologic outcomes even in such rare and aggressive presentations.
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Drug Discovery Landscape
1 orphan drug designation for Yolk sac tumor.
1 orphan drug designation for Yolk sac tumor.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Technetium Tc99m murine monoclonal antibody to human AFP | antibodies | FDA | 1989-08-01 | — | Immunomedics, Inc. |
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