Sertoli-leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in dicer1 gene


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KARNAK İ., Ceylan A. C. , HALİLOĞLU M., Özön A., ORHAN D., Kutluk T.

Turkish Journal of Pediatrics, vol.63, no.3, pp.500-505, 2021 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.24953/turkjped.2021.03.018
  • Title of Journal : Turkish Journal of Pediatrics
  • Page Numbers: pp.500-505
  • Keywords: DICER1 syndrome, Differentiated thyroid carcinoma, Lung cyst, Rhabdomyosarcoma, Sertoli-Leydig cell tumor

Abstract

© 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.