CD34和S100共表达的ALK重排皮肤梭形细胞肿瘤2例及文献复习

ALK-rearranged cutaneous spindle cell tumors with co-expression of CD34 and S100 in 2 cases and literature review

目的报道2例具有独特形态学特征、CD34和S100共表达的间变性淋巴瘤激酶(ALK)重排皮肤梭形细胞肿瘤,以提高临床医师对该类软组织梭形细胞肿瘤的认识。方法收集2例外院会诊的病例,采用免疫组化EnVision二步法检测肿瘤中vimentin、ALK(D5F3)、BCL2、CD34及Ki-67的表达情况。1例使用荧光原位杂交(FISH)法断裂探针、1例通过二代测序(NGS)检测ALK基因重排。结果形态学上,肿瘤细胞由温和的梭形细胞或卵圆形细胞构成,呈束状或漩涡状排列,间质玻璃样变及黏液变性,可见较多开放的血管腔。该类肿瘤同时表达CD34和S100,存在ALK基因重排。结论2例CD34和S100共表达的ALK重排皮肤梭形细胞肿瘤具有独特的形态学,具有相同的免疫组化表达及分子特征,与NTRK重排梭形细胞肿瘤具有相似的临床病理学特征。

Objective Two cases of anaplastic lymphoma kinase(ALK)-rearranged cutaneous spindle cell tumors with unique morphologic features and co-expression of S100 and CD34 are reported to improve clinicians′understanding of this type of soft tissue spindle cell tumors.Methods Two cases receiving consultation of doctors from other hospitals were collected.The expressions of vimentin,ALK(D5F3),BCL2,CD34 and Ki-67 in tumors were detected by using EnVision immunohistochemical two-step method.ALK gene rearrangement was detected by using break-apart fluorescence in situ hybridization(FISH)probes in 1 case and by using next-generation sequencing(NGS)in the other case.Results Morphologically,the tumor cells were composed of mild spindle cells or ovoid cells arranged in bundle-like or whirlpool-like pattern,with interstitial hyaline degeneration and mucinous degeneration and visible more open vascular lumens.These tumors expressed both CD34 and S100,and ALK gene rearrangements were found.Conclusion The ALK-rearranged cutaneous spindle cell tumors with co-expression of CD34 and S100 in the 2 cases have unique morphology,identical immunohistochemical expression and molecular characteristics,and similar clinicopathological features to neurotrophic tyrosine receptor kinase(NTRK)-rearranged spindle cell tumors.