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

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. A 10-year-old- girl with a history of cystic nephroma presented with a 3-week his...

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Bibliographic Details
Published in:Journal of pediatric & adolescent gynecology 2020-04, Vol.33 (2), p.173-176
Main Authors: Dural, Ozlem, Kebudi, Rejin, Yavuz, Ekrem, Yilmaz, Ismail, Buyukkapu Bay, Sema, Schultz, Kris Ann P., Hill, D. Ashley
Format: Article
Language:English
Subjects:
DICER1
Embryonal rhabdomyosarcoma
Uterus
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Summary: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. 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. 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.
ISSN:1083-3188
1873-4332
DOI:10.1016/j.jpag.2019.12.002