Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA, USA.
International Pleuropulmonary Blastoma/DICER1 Registry, Minneapolis, MN, USA.
Mod Pathol. 2022 May;35(5):676-679. doi: 10.1038/s41379-021-00947-y. Epub 2021 Dec 14.
This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially considered most likely a mesenchymal hamartoma based on imaging, demonstrated the characteristic histologic pattern of embryonal rhabdomyosarcoma residing in the subepithelial or cambium layer-like zone of the epithelial-lined cysts. Thus, although the differential diagnosis includes mesenchymal hamartoma, a young child with a multicystic mass lesion in the liver, lung, or kidney should both raise the possibility of a germline pathogenic DICER1 variant and also not be mistaken for one of the other hepatic neoplasms of childhood.
本报告记录了一例 8 月龄男孩的肝脏多房性肿瘤，其携带 DICER1 种系致病性变异。该肿瘤最初基于影像学检查，被认为最有可能是间叶性错构瘤，但在组织学上表现出胚胎性横纹肌肉瘤的特征性模式，位于上皮衬里的囊腔的上皮下或成芽层样区域。因此，尽管鉴别诊断包括间叶性错构瘤，但对于肝脏、肺或肾脏有多房性肿块病变的幼儿，既要考虑存在 DICER1 种系致病性变异的可能性，也要避免误诊为其他儿童期肝脏肿瘤。
