Departments of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara.
Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
Turk J Pediatr. 2021;63(3):500-505. doi: 10.24953/turkjped.2021.03.018.
DICER1 syndrome is a hereditary cancer predisposition syndrome which is related DICER1 gene and may present a variety of manifestations.
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.
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.
DICER1 综合征是一种遗传性癌症易感性综合征，与 DICER1 基因相关，可能表现出多种表现。
一名青春期前女孩患有卵巢 Sertoli-Leydig 细胞肿瘤、甲状腺滤泡癌、宫颈和肺囊肿胚胎横纹肌肉瘤。基因分析显示 14q32.13 位点突变（c.3377delC，c.71delC），确诊为 DICER1 综合征。
该病例旨在强调早期诊断 DICER1 基因突变以及密切随访 DICER1 综合征相关病理变化的重要性，同时还需要对家族进行遗传评估。
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