DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl
Journal of Pediatric and Adolescent Gynecology, cilt.33, sa.2, ss.173-176, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 33 Sayı: 2
- Basım Tarihi: 2020
- Doi Numarası: 10.1016/j.jpag.2019.12.002
- Dergi Adı: Journal of Pediatric and Adolescent Gynecology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
- Sayfa Sayıları: ss.173-176
- Anahtar Kelimeler: DICERI, Embryonal rhabdomyosarcoma, Uterus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.