Sertoli-leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in dicer1 gene
Turkish Journal of Pediatrics, cilt.63, sa.3, ss.500-505, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 63 Sayı: 3
- Basım Tarihi: 2021
- Doi Numarası: 10.24953/turkjped.2021.03.018
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
- Sayfa Sayıları: ss.500-505
- Anahtar Kelimeler: Sertoli-Leydig cell tumor, differentiated thyroid carcinoma, rhabdomyosarcoma, DICER1 syndrome, lung cyst
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
Özet
© 2021, Turkish National Pediatric Society. All rights reserved.Background. DICER1 syndrome is a hereditary cancer predisposition syndrome which is related DICER1 gene and may present a variety of manifestations. Case. A prepubertal girl with ovarian Sertoli-Leydig cell tumor, thyroid follicular carcinoma, embryonal rhabdomyosarcoma of the cervix and lung cyst is presented. Genetic analysis demonstrated mutation (c.3377delC, c.71delC) in 14q32.13 loci and confirmed the diagnosis of DICER1 syndrome. Conclusion. The case is presented to emphasize the importance of early diagnosis of alterations in DICER1 gene and close follow-up for the development of DICER1 syndrome related pathologies, and necessity for genetic evaluation of the family.