PMID- 25984679
OWN - NLM
STAT- MEDLINE
DCOM- 20150811
LR  - 20210109
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 94
IP  - 19
DP  - 2015 May
TI  - Newly 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: a STARD-compliant article.
PG  - e873
LID - 10.1097/MD.0000000000000873 [doi]
LID - e873
AB  - 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.
FAU - Chen, Xiancheng
AU  - Chen X
AD  - From the Departments of Urology (XC, YY, WG, LX, HG) and Pathology (QY), Nanjing 
      Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical 
      School, Nanjing, China.
FAU - Yang, Yang
AU  - Yang Y
FAU - Gan, Weidong
AU  - Gan W
FAU - Xu, Linfeng
AU  - Xu L
FAU - Ye, Qing
AU  - Ye Q
FAU - Guo, Hongqian
AU  - Guo H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (ASPSCR1 protein, human)
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (DNA Probes)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Adult
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
MH  - Carcinoma, Renal Cell/*diagnosis/genetics
MH  - Child
MH  - Child, Preschool
MH  - DNA Probes
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intracellular Signaling Peptides and Proteins
MH  - Kidney Neoplasms/*diagnosis/genetics
MH  - Male
MH  - Oncogene Proteins, Fusion
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Translocation, Genetic
PMC - PMC4602563
EDAT- 2015/05/20 06:00
MHDA- 2015/08/12 06:00
PMCR- 2015/05/21
CRDT- 2015/05/19 06:00
PHST- 2015/05/19 06:00 [entrez]
PHST- 2015/05/20 06:00 [pubmed]
PHST- 2015/08/12 06:00 [medline]
PHST- 2015/05/21 00:00 [pmc-release]
AID - 00005792-201505030-00022 [pii]
AID - 10.1097/MD.0000000000000873 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2015 May;94(19):e873. doi: 10.1097/MD.0000000000000873.