伊马替尼靶向治疗后胃肠间质瘤伴横纹肌肉瘤分化1例及文献复习  

Gastrointestinal stromal tumor with rhabdomyosarcoma differentiation after imatinib targeted therapy:A case report and literature review

作　　者：袁亦姝 冯智超[2] 谭娟[1] 程文静[1] 刘杨[1] YUAN Yishu;FENG Zhichao;TAN Juan;CHENG Wenjing;LIU Yang(Department of Pathology,Third Xiangya Hospital,Central South University,Changsha 410013;Department of Radiology,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院病理科,长沙410013 [2]中南大学湘雅三医院放射科,长沙410013

出　　处：《临床与病理杂志》2024年第3期488-493,共6页Journal of Clinical and Pathological Research

摘　　要：胃肠间质瘤(gastrointestinal stromal tumor,GIST)是消化道最常见的间叶源性肿瘤。随着伊马替尼的应用,晚期GIST的疗效得到了显著改善。尽管多数患者接受伊马替尼治疗后获益,但仍有部分患者会发生继发性耐药。本例GIST患者接受伊马替尼治疗15个月后出现了耐药及肿瘤进展,镜下示部分肿瘤细胞出现明显的多形性,免疫组织化学染色示伴横纹肌细胞分化。在进展的病灶中未发现c-Kit、PDGFRA基因的继发突变。由于GIST横纹肌肉瘤去分化罕见,本病例的报道将有助于伊马替尼治疗后GIST的诊断,避免误诊及漏诊。Gastrointestinal stromal tumor(GIST)is the most common mesenchymal tumor of the digestive tract.With the application of imatinib,the efficacy of treatment for advanced GIST has significantly improved.Although most patients benefit from imatinib therapy,some patients develop secondary resistance.In this particular case,a GIST patient developed resistance and tumor progression after 15 months of imatinib treatment.Microscopic examination showed significant polymorphism in some tumor cells and immunohistochemistry indicated rhabdomyoblastic differentiation.No secondary mutations in the c-Kit and PDGFRA genes were found in the progressive lesions.Due to the rarity of rhabdomyosarcoma dedifferentiation in GIST,this case report will aid in the diagnosis of GIST following imatinib treatment,helping to avoid misdiagnosis and missed diagnosis.

关 键 词：胃肠间质瘤 伊马替尼 横纹肌肉瘤分化 

分 类 号：R735[医药卫生—肿瘤]