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目的探讨t(X;17)ASPL-TFE3型肾细胞癌的临床病理特征及融合基因改变。方法对3例t(X;17)ASPL-TFE3型肾细胞癌进行光镜观察及免疫组化染色。对癌以及癌旁组织进行融合基因的检测。结果例1镜下可见癌细胞排列成宽阔的腺管状、乳头状结构,形态学符合经典的t(X;17)ASPL-TFE3型肾细胞癌。例2肿瘤组织呈不规则腺管状、巢状或条索状浸润性生长,界限不清,伴间质促纤维组织增生;瘤细胞高度异型,胞质丰富、嗜酸性,可见靴钉样内衬于管腔的生长方式,符合肾集合管癌的组织学形态。例3肿瘤细胞呈卵圆形或短梭形,片状或弥散性分布,并可见瘤细胞呈放射状围血管分布的结构形态,非常类似于肾上皮样血管平滑肌脂肪瘤。3例肿瘤TFE3为弱到强(+),癌旁组织为(-)。RT-PCR结果示3例肿瘤组织及远离10 cm的癌旁组织均检测出ASPL-TFE3融合基因,并为测序所证实。结论 t(X;17)ASPL-TFE3型肾细胞癌可具有特殊形态,当形态学不典型时,RT-PCR检测法有助于肿瘤的精确诊断。此外癌旁组织被检测出融合基因,其原因尚需进一步研究。
Objective To investigate the clinical and pathological features of t (X; 17) ASPL-TFE3 renal cell carcinoma and the changes of fusion gene. Methods Three cases of t (X; 17) ASPL-TFE3 renal cell carcinoma were observed by light microscopy and immunohistochemistry. Detection of fusion genes in cancerous and paracancerous tissues. Results Example 1 Microscopically, the cancerous cells were arranged in a wide glandular and papillary structure, which corresponded to the classic t (X; 17) ASPL-TFE3 type of renal cell carcinoma. Example 2 tumor tissue was irregular glandular, neoplastic or cord-like infiltrative growth, the boundary is unclear, with interstitial fibrosis; hyperchromosomal tumor cells, cytoplasm rich, eosinophilic, see the nail-like lining In the luminal growth mode, in line with the histological morphology of renal ductal carcinoma. Example 3 tumor cells were oval or short spindle, flaky or diffuse distribution, and visible tumor cells were radial perivascular distribution of morphological morphology, is very similar to renal epithelioid angiomyolipoma. TFE3 was weakly to strongly (+) in 3 cases and (-) in adjacent tissue. RT-PCR results showed that ASPL-TFE3 fusion gene was detected in 3 cases of tumor tissues and 10 cm away from paracancerous tissues, and confirmed by sequencing. Conclusions t (X; 17) ASPL-TFE3 renal cell carcinoma may have a special morphology. RT-PCR may be helpful in the accurate diagnosis of tumors when the morphology is not typical. In addition, adjacent tissues were detected fusion gene, the reason needs further study.