@article{04c5f707810c4e61bd9a643890f779fb,
title = "DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl",
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",
author = "Ozlem Dural and Rejin Kebudi and Ekrem Yavuz and Ismail Yilmaz and {Buyukkapu Bay}, Sema and Schultz, {Kris Ann P.} and Hill, {D. Ashley}",
note = "Funding Information: The authors thank Prof. Emin Darendeliler from the Department of Radiation Oncology, Istanbul University, Oncology Institute, and Prof. Carola Arndt from the Department of Pediatric Hematology-Oncology, Mayo Clinic, for their helpful discussions in the treatment decisions, Anne K. Harris from the Children's Hospitals and Clinics of Minnesota, and the International Pleuropulmonary Blastoma/DICER1 Registry and International Ovarian and Testicular Stromal Tumor (OTST) Registry, Minneapolis, MN, and Amanda Field, from the ResourcePath Laboratory, Sterling, VA, for their valuable help in the DICER1 genetic testing. Publisher Copyright: {\textcopyright} 2019 North American Society for Pediatric and Adolescent Gynecology",
year = "2020",
month = apr,
doi = "10.1016/j.jpag.2019.12.002",
language = "English",
volume = "33",
pages = "173--176",
journal = "Journal of Pediatric and Adolescent Gynecology",
issn = "1083-3188",
number = "2",
}