Open AccessNewly Designed Break-Apart and ASPL-TFE3 Dual-Fusion FISH Assay Are Useful in Diagnosing Xp11.2 Translocation Renal Cell Carcinoma and ASPL-TFE3 Renal Cell Carcinoma
Author(s) -
Xiancheng Chen,
Yang Yang,
Weidong Gan,
Linfeng Xu,
Qing Ye,
Hongqian Guo
Publication year - 2015
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000000873
Subject(s) - tfe3 , medicine , renal cell carcinoma , fluorescence in situ hybridization , pathology , biology , gene expression , genetics , gene , promoter , chromosome
Abstract The diagnosis of Xp11.2 translocation renal cell carcinoma (tRCC), which relies on morphology and immunohistochemistry (IHC), is often either missed in the diagnosis or misdiagnosed. To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL - TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study). Based on the genetic characteristics of Xp11.2 tRCC and the ASPL - TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL - TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital. To test the accuracy of the probes, we further performed reverse transcriptase–polymerase chain reaction (PCR) on 8 cases for which frozen tissues were available. Among the 65 cases diagnosed with RCC, TFE3 IHC was positive in 24 cases. Twenty-two cases were confirmed as Xp11.2 tRCC by break-apart TFE3 FISH, and 6 of these cases were further diagnosed as ASPL - TFE3 RCC by ASPL - TFE3 dual-fusion FISH detection. Importantly, reverse transcriptase–PCR showed concordant results with the results of FISH assay in the 8 available frozen cases. The break-apart and ASPL - TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL - TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL - TFE3 RCC.