ALK阳性组织细胞增生症5例临床病理特征研究

A study on the clinicopathological features of 5 cases of ALK-positive histiocytosis

目的探究间变性淋巴瘤激酶(ALK)阳性组织细胞增生症患者的临床病理特征。方法收集5例ALK阳性组织细胞增生症患者的临床病历资料和病理组织。所有组织均经常规苏木精-伊红染色观察组织病理学特征;采用EnVision免疫组化法检测ALK蛋白表达水平;采用荧光原位杂交(FISH)法及二代测序(NGS)法检测ALK基因突变情况。结果5例中,成人3例,儿童2例;女性4例,男性1例。1例肿瘤细胞呈梭形细胞样,1例呈泡沫样组织细胞样,另外3例呈上皮样、组织细胞样。所有病例均强表达组织细胞标志CD163、CD68及ALK蛋白。5例均有ALK基因易位,均为KIF5B-ALK融合基因。结论5例ALK阳性组织细胞增生症的组织学形态谱系涵盖上皮样、泡沫样组织细胞及梭形细胞形态,均强表达组织细胞学标志CD163、CD68及ALK蛋白,均检测到ALK基因断裂,且均为KIF5B-ALK融合基因。

Objective To explore the clinicopathological features of anaplastic lymphoma kinase(ALK)-positive histiocytosis patients.Methods The clinical medical record data of 5 ALK-positive histiocytosis patients and their pathological tissues were collected.All the tissues were performed conventional hematoxylin-eosin staining to observe the histopathological features.EnVision immunohistochemistry method was used to detect the expression of ALK protein,and fluorescence in situ hybridization(FISH)method and next-generation sequencing(NGS)method were used to detect the genetic mutation situation of the ALK gene.Results Among the 5 cases,3 cases were adults and 2 cases were children,and 4 cases were female and 1 case was male.Among the 5 cases,the tumor cells of 1 case were spindle cell-like,and the tumor cells of 1 case were foam-like histiocytoid,and the tumor cells of the other 3 cases were epithelioid and histiocytoid.The histiocyte markers of CD163 and CD68,and ALK protein were strongly expressed in all the cases.All the 5 cases had ALK gene translocations,which were KIF5B-ALK fusion gene.Conclusion In this study,the histological[LM]morphological pedigree of 5 cases of ALK-positive histiocytosis includes epithelioid,foam-like histocytes and spindle cell morphology,all of which strongly express the histiocyte markers of CD163 and CD68,and ALK protein,and the chromosome breakages in ALK gene are detected in all the cases,and all of them are KIF5B-ALK fusion gene.