病理
基因重排
免疫组织化学
大细胞
淋巴瘤
肺癌
作者
Yanhua Bai,Wei Sun,Dongfeng Niu,Xin Yang,Xinting Diao,Yang Yu,Dongmei Lin
标识
DOI:10.1007/s00428-021-03092-8
摘要
ALK-positive histiocytosis (APH) is a newly defined entity with specific histological features and a highly recurrent KIF5B-ALK gene fusion. APH is characterized by clonal proliferation of histiocytes and can present as either systemic or localized. It was first described in infants and then expanded to older children and adults. Although lung involvement has been shown in three systemic cases, localized lung lesions have not previously been reported. The ALK gene has many fusion partners in addition to KIF5B in APH. Here, we report a striking case of localized APH in the lung harboring a rare EML4-ALK rearrangement in a 52-year-old Chinese woman. Furthermore, we reviewed the previously published APH cases, analyzed the partner genes of the ALK fusions, and explored the role of patient ethnicity. We discovered a link between ethnicity and this rare disease.
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