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

J Pediatr Adolesc Gynecol. 2020 Apr;33(2):173-176. doi: 10.1016/j.jpag.2019.12.002. Epub 2019 Dec 12.

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.

Keywords: DICER1; Embryonal rhabdomyosarcoma; Uterus.

Publication types

  • Case Reports

MeSH terms

  • Chemotherapy, Adjuvant / methods
  • Child
  • DEAD-box RNA Helicases
  • Female
  • Germ-Line Mutation
  • Humans
  • Hysterectomy
  • Rhabdomyosarcoma, Embryonal / diagnosis
  • Rhabdomyosarcoma, Embryonal / genetics*
  • Rhabdomyosarcoma, Embryonal / pathology
  • Rhabdomyosarcoma, Embryonal / therapy
  • Ribonuclease III
  • Uterine Hemorrhage / etiology
  • Uterine Neoplasms / diagnostic imaging
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / pathology
  • Uterine Neoplasms / therapy

Substances

  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases