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DICER1 Mutation in Recurrent Ovarian Sertoli-Leydig Cell Tumor: A Case Report
Shalon Liu1, Alida J Pokoradi2, Donald Soboleski3
1Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.
Journal of Pediatric and Adolescent Gynecology
|November 19, 2022
Summary
DICER1 mutations can cause rare Sertoli-Leydig cell tumors. This case highlights the aggressive nature of recurrent ovarian Sertoli-Leydig cell tumors in a pediatric patient with DICER1 mutation.
Area of Science:
- Oncology
- Genetics
- Pediatric Oncology
Background:
- DICER1 mutations are associated with various neoplasms, including Sertoli-Leydig cell tumors and cystic nephroma.
- Sertoli-Leydig cell tumors are rare sex cord-stromal tumors of the ovary.
Observation:
- A pediatric patient with a known DICER1 mutation and history of cystic nephroma presented with recurrent ovarian Sertoli-Leydig cell tumor.
- The patient underwent initial surgical staging and adjuvant chemotherapy.
Findings:
- Recurrences were treated with a multimodal approach including chemotherapy, whole-abdomen radiation therapy, and surgical debulking.
- The recurrent tumor demonstrated aggressive behavior despite aggressive treatment.
Implications:
- This case underscores the aggressive nature of recurrent Sertoli-Leydig cell tumors, particularly in the context of DICER1 mutations.
- Highlights the importance of timely cancer diagnosis and management in pediatric patients with DICER1-related conditions.
