在一名患有多结节性甲状腺肿、卵巢 Sertoli-Leydig 细胞瘤和松果体实质中间分化瘤的青少年中发现的新型致病性 变异体。
Novel pathogenic variant of in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation.
机构信息
Pediatric Endocrinology Department, Hospital de Pediatría, UMAE CMN Siglo XXI, Mexico City, Mexico.
Pediatric Department, Hospital General de Zona No. 32, Querétaro, Mexico.
出版信息
J Pediatr Endocrinol Metab. 2023 Jun 13;36(8):782-785. doi: 10.1515/jpem-2023-0149. Print 2023 Aug 28.
OBJECTIVES
To present a case of a new pathogenic variant of DICER1.
CASE PRESENTATION
13-year-old female with non-toxic multinodular goiter and ovarian Sertoli-Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.
CONCLUSIONS
Mutations in the gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.
目的
介绍 DICER1 一种新的致病性变异体。
病例介绍
一名 13 岁女性，患有非毒性多结节性甲状腺肿和卵巢 Sertoli-Leydig 细胞瘤，被诊断为松果体实质肿瘤中等分化。下一代测序显示基因（exon 16，c2488del [pGlu830Serfs*2]杂合）中的一个新的种系突变，确立了 DICER1 综合征的诊断。
结论
基因中的突变导致从儿童期到成年期对广泛的良性或恶性肿瘤的遗传易感性。
Zotero 插件