DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl

Ozlem Dural, Rejin Kebudi, Ekrem Yavuz, Ismail Yilmaz, Sema Buyukkapu Bay, Kris Ann P. Schultz, D. Ashley Hill

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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 languageEnglish
Pages (from-to)173-176
Number of pages4
JournalJournal of Pediatric and Adolescent Gynecology
Issue number2
StatePublished - Apr 2020


  • DICER1
  • Embryonal rhabdomyosarcoma
  • Uterus


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