Department of Surgical Pathology, Shimane University Hospital, 89-1 Enya, Izumo, Shimane 693-8501, Japan.
Department of Organ Pathology, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan.
Pathol Res Pract. 2019 Sep;215(9):152479. doi: 10.1016/j.prp.2019.152479. Epub 2019 May 26.
Xp11.2 translocation renal cell carcinoma (Xp11tRCC) is a subtype of renal cell carcinoma (RCC) characterized by chromosomal rearrangement of the region harboring the transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3). Xp11tRCCs comprises 20% to 40% of RCCs of children and adolescents and is generally associated with good prognosis. However in adult, the incidence of this tumor is relatively low (1% to 4%), suggesting a more aggressive course. TFE3 gene is fused by translocation to numerous partner genes, and definitive molecular characteristics can be difficult to verify. In this case report, we presented a case of Xp11tRCC with the SFPQ/PSF-TFE3 chimeric gene. The fusion gene was detected by 5'-rapid amplification of cDNA ends (5'RACE). The tumor was found to be in an advanced stage with multiple lymph node metastases. The histological characteristics of the tumor were different from those of XP11tRCC with other more frequently detected fusion genes.
Xp11.2 易位性肾细胞癌（Xp11tRCC）是肾细胞癌（RCC）的一种亚型，其特征是含有免疫球蛋白重链增强子 3（TFE3）转录因子的区域发生染色体重排。Xp11tRCC 占儿童和青少年 RCC 的 20%至 40%，通常预后良好。然而，在成人中，这种肿瘤的发病率相对较低（1%至 4%），提示其具有更具侵袭性的病程。TFE3 基因通过易位与许多伙伴基因融合，明确的分子特征可能难以验证。在本病例报告中，我们介绍了一例 SFPQ/PSF-TFE3 嵌合基因的 Xp11tRCC。融合基因通过 5'-快速扩增 cDNA 末端（5'RACE）检测到。肿瘤处于晚期，有多个淋巴结转移。肿瘤的组织学特征与其他更常检测到的融合基因的 XP11tRCC 不同。
