Abstract
Background: Germline DICER1 mutations increase the risk of developing a wide variety of generally uncommon tumors. We describe a case of DICER1-related embryonal rhabdomyosarcoma (ERMS) of the uterine corpus in a prepubertal girl. Case: A 10-year-old- girl with a history of cystic nephroma presented with a 3-week history of vaginal bleeding. A 3-cm mass filling the uterine cavity was detected, and histopathologic examination of hysteroscopy-guided biopsy samples revealed ERMS. Molecular genetic sequencing of the tumor sample revealed a DICER1 mutation. Summary and Conclusion: This report highlights the importance of screening for DICER1 mutations in the presence of the early-onset features of this syndrome, and extends the spectrum of DICER1-related tumors by showing the mutation in a case of ERMS of the uterine corpus.
Original language | English |
---|---|
Pages (from-to) | 173-176 |
Number of pages | 4 |
Journal | Journal of Pediatric and Adolescent Gynecology |
Volume | 33 |
Issue number | 2 |
DOIs | |
State | Published - Apr 2020 |
Keywords
- DICER1
- Embryonal rhabdomyosarcoma
- Uterus