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Sertoli-Leydig cell tumor with DICER1 mutation
Shae N Jansen1, Samantha L McCarty2, Lisa M Landrum3
1Department of Obstetrics and Gynecology, Indiana University School of Medicine, Indianapolis, IN, USA.
Gynecologic Oncology Reports
|April 4, 2024
Summary
A 15-year-old with a Sertoli-Leydig cell tumor (SLCT) had a DICER1 mutation. Early detection through genetic testing and screening is crucial for DICER1 Syndrome patients.
Area of Science:
- Gynecology
- Oncology
- Genetics
Background:
- Sertoli-Leydig cell tumors (SLCT) are rare sex cord stromal tumors.
- Germline DICER1 mutations are implicated in a subset of SLCT cases.
Observation:
- A 15-year-old presented with secondary amenorrhea, voice deepening, and shoulder broadening.
- Hormonal analysis revealed elevated testosterone, inhibin B, androstenedione, and DHEA.
- Imaging identified a 5.8 cm complex left ovarian lesion.
Findings:
- A stage 1A, poorly differentiated/grade 3 ovarian SLCT was diagnosed post-surgery.
- Both somatic and germline testing confirmed pathogenic DICER1 variations.
- The patient completed adjuvant chemotherapy (PEI) with no signs of recurrence.
Implications:
- DICER1 Syndrome is linked to various neoplasms, including SLCT, pleuropulmonary blastoma, and Wilms tumor.
- Genetic testing and cancer screening are recommended for SLCT patients with DICER1 mutations.
- This case underscores the importance of early diagnosis and surveillance for DICER1-associated tumors.
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