The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 3
Sertoli-Leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in DICER1 gene
İbrahim Karnak 1 ,Ahmet Cevdet Ceylan 2 ,Mithat Haliloğlu 3 ,Alev Özön 4 ,Diclehan Orhan 5 ,Tezer Kutluk 6
1 Departments of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara
2 Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey
3 Departments of Radiology, Hacettepe University Faculty of Medicine, Ankara
4 Departments of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara
5 Departments of Pathology, Hacettepe University Faculty of Medicine, Ankara
6 Departments of Pediatric Oncology, Hacettepe University Faculty of Medicine, Ankara
DOI : 10.24953/turkjped.2021.03.018 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 : Sertoli-Leydig cell tumor, differentiated thyroid carcinoma, rhabdomyosarcoma, DICER1 syndrome, lung cyst

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