摘要
目的 探讨t(6;11)(p12;q21)/TFEB基因融合相关性肾细胞癌(renal cell carcinoma, RCC)的临床病理学特点、免疫表型、诊断和鉴别诊断,提高对该肿瘤的认识。方法 对1例t(6;11)(p12;q21)/TFEB基因融合相关性RCC进行临床病理学、免疫组织化学、和遗传学分析,并复习相关文献。结果 患者女性,20岁,CT扫描发现右肾下极肿物,直径2.5 cm,界限清。大体检查,肿物大小2.5 cm×2.0 cm×2.0 cm,界限清。镜下观察,肿瘤内可见大、小2种肿瘤细胞。大细胞胞质透亮至淡红染,细胞界限清楚。小细胞界限不清,胞质红染,围绕透明基质排列成菊形团样结构。肿瘤细胞表达弥漫表达CK(广谱)、EMA、TFEB和Melan-A。FISH检测显示该肿瘤TFEB基因断裂阳性。结论 t(6;11)(p12;q21)/TFEB基因融合相关性RCC极为罕见,预后较好,确诊需结合临床病理学特征、免疫表型和FISH检测。
Objective To study the clinicopathologic features, immunophenotype, diagnosis and differential diagnosis of t(6;11)(p12;q21)/TFEB renal cell carcinoma(RCC) so as to improve the recognition of this lesion. Methods A case of t(6;11)(p12;q21)/TFEB RCC was investigated for clinicopathological, immunohistochemical, and genetic characteristics, and the relevant literature was reviewed as well. Results A 20-year-old female was found a well-defined mass measuring 2.5 cm in the lower pole of the right kidney by CT scan. On macroscopic examination, the circumscribed tumor was 2.5 cm×2 cm×2 cm in size and firm in texture and the cut surface was tan and yellow in color. Histologically, the tumor was composed of two populations of cells: large and small cells. The larger cells was well-defined with clear to faintly eosinophilic cytoplasm. The ill-defined smaller cells had eosinophilic and were arranged around the hyaline substrate forming the rossete-like structures. Immunohistochemically, the tumor cells were diffusively positive for CKpan, EMA, TFEB and Melan-A. FISH assay demonstrated the TFEB break-apart. Conclusiont(6;11)(p12;q21)/TFEB RCC is an exceedingly rare lesion with an indolent clinical course and its correct diagnosis is based on the combination of clinicopathologic features, immunophenotype and FISH assay.
作者
张丽华
刘丹丹
唐宝钰
贾明凤
王振征
ZHANG Li-hua;LIU Dan-dan;TANG Bao-yu;JIA Ming-feng;WANG Zhen-zheng(the Fourth Medical Center,of PLA General Hospital,Beijing 100048,China;the 960 Hospital of PLA,Ji'nan 250031,China)
出处
《诊断病理学杂志》
2022年第11期1045-1048,共4页
Chinese Journal of Diagnostic Pathology
关键词
肾脏
癌
易位
TFEB
Kidney
Carcinoma
Translocation
TFEB