Abstract

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.

Keywords: DICER1 syndrome, Sertoli-Leydig cell tumor, differentiated thyroid carcinoma, lung cyst, rhabdomyosarcoma

Copyright and license

Copyright © 2021 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Karnak İ, Ceylan AC, Haliloğlu M, Özön A, Orhan D, Kutluk T. Sertoli-Leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in DICER1 gene. Turk J Pediatr 2021; 63: 500-505. https://doi.org/10.24953/turkjped.2021.03.018