ALK基因易位性肾细胞癌临床病理学分析及文献复习  

Clinicopathological features of ALK gene translocation renal cell carcinoma:a case report with literature review

作　　者：马平 刘冲 MA Ping;LIU Chong(Department of Pathology,Nanjing Gaochun People's Hospital,Nanjing 210029,China;Department of Pathology,Jiangsu Provincial People's Hospital/the First Affiliated Hospital with Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京市高淳人民医院病理科,南京211300 [2]江苏省人民医院(南京医科大学第一附属医院)病理学部,南京210029

出　　处：《诊断病理学杂志》2023年第1期40-44,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨ALK基因易位性肾细胞癌的临床病理学特点。方法对1例ALK基因易位性肾细胞癌进行临床病理学研究并复习相关文献。结果患者男性,64岁,体检发现左肾占位10 d入院,后经腹腔镜行肾部分切除术。切除标本肿瘤大体呈囊实性,镜下呈囊管状、乳头状、筛状排列,肿瘤细胞界限不清,呈立方形、矮柱状,单层或假复层排列,胞质丰富嗜酸性,部分空泡状,内似有黏液样物堆积,核圆形或卵圆形,核仁明显,染色质细腻。间质可见丰富的黏液和炎细胞浸润,包括泡沫细胞、淋巴细胞和浆细胞。免疫组化肿瘤细胞表达肾脏上皮性标记,显著的特征是ALK(D5F3)细胞质和细胞膜强阳性表达。分子检测提示ALK基因发生断裂重排。结论ALK基因易位性肾细胞癌非常罕见,与多种类型的肾细胞癌具有相似性,需要借助免疫组织化学染色ALK蛋白进行筛查,必要时基因检测进一步证实。该肿瘤患者使用ALK抑制剂治疗可能受益。Objective To investigate the clinicopathological features of ALK gene translocation renal cell carcinoma.Methods A case of ALK gene translocation renal cell carcinoma was studied by clinicopathology,and the relevant literature was reviewed.Results A 64-year-old male patient with left renal mass was found in physical examination,and then laparoscopic partial nephrectomy was performed.The tumor in the resected specimens was generally cystic and solid.Microscopically,the tumor showed cystic,tubular,papillary and reticular structures.The boundaries of tumor cells were unclear,and the cells were cubic or short columnar with monolayer or pseudostratified arrangement.The cytoplasm was rich,eosinophilic,and partially vacuolated,with potential mucoid accumulation.The nucleus was round or oval,with fine chromatin and prominent nucleoli.There were abundant mucin and inflammatory cells in the stroma,including foam cells,lymphocytes,and plasma cells.Immunohistochemically,tumor cells expressed renal tubule markers,and were characterized by strongly positive expression of ALK(D5F3)in cytoplasm and cell membrane.Fluorescence in situ hybridization(FISH)analysis showed split ALK signals,suggesting the ALK gene rearrangement.Conclusion ALK gene translocation renal cell carcinoma is very rare,which is similar to many types of renal cell carcinoma.It needs to be screened by immunohistochemical staining of ALK protein and further confirmed by molecular analysis if necessary.Patients with this tumor may be benefit from ALK inhibitor treatment.

关 键 词：肾肿瘤 肾细胞癌 ALK基因易位 临床病理学 免疫组化 

分 类 号：R737.11[医药卫生—肿瘤]