PMID- 28315422
OWN - NLM
STAT- MEDLINE
DCOM- 20170911
LR  - 20180114
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 63
DP  - 2017 May
TI  - SFPQ/PSF-TFE3 renal cell carcinoma: a clinicopathologic study emphasizing 
      extended morphology and reviewing the differences between SFPQ-TFE3 RCC and the 
      corresponding mesenchymal neoplasm despite an identical gene fusion.
PG  - 190-200
LID - S0046-8177(17)30073-4 [pii]
LID - 10.1016/j.humpath.2017.02.022 [doi]
AB  - Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a 
      rare epithelial tumor. Of note, the appearance of the gene fusion does not 
      necessarily mean that it is renal cell carcinoma. The corresponding mesenchymal 
      neoplasms, including Xp11 neoplasm with melanocytic differentiation, TFE3 
      rearrangement-associated perivascular epithelioid cell tumor (PEComa) and 
      melanotic Xp11 translocation renal cancer, can also harbor the identical gene 
      fusion. However, the differences between Xp11 translocation RCC and the 
      corresponding mesenchymal neoplasm have only recently been described. Herein, we 
      examined 5 additional cases of SFPQ-TFE3 RCCs using clinicopathologic, 
      immunohistochemical, and molecular analyses. One tumor had the typical 
      morphologic features of SFPQ-TFE3 RCC, whereas other 3 cases demonstrated the 
      unusual morphologic features associated with pseudorosettes formation or clusters 
      of smaller cells, mimicking TFEB RCC. The remaining one showed branching tubules 
      and papillary structure composed of clear and eosinophilic tumor cells. 
      Immunohistochemically, all 5 cases demonstrated moderate (2+) or strong (3+) 
      positive staining for TFE3, PAX-8 and CD10, whereas no cases demonstrated TFEB, 
      Cathepsin K, CA-IX, CK7, Melan-A, or HMB-45 expression. Genetically, the fusion 
      transcripts were identified in 3 cases by reverse-transcription polymerase chain 
      reaction (RT-PCR). On the basis of fluorescence in situ hybridization (FISH) 
      analysis, all the cases were detected with SFPQ-TFE3 gene fusion. Clinical 
      follow-up data were available for all the patients, and no one developed tumor 
      recurrence, progression, or metastasis. We also review the differences between 
      SFPQ-TFE3 RCC and the corresponding mesenchymal neoplasm despite the identical 
      gene fusion. The presence of pseudorosettes also expands the known histological 
      features of SFPQ-TFE3 RCC.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Wang, Xiao-Tong
AU  - Wang XT
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical 
      Medical College, Nanjing Medical University, Nanjing, Jiangsu, China.
FAU - Xia, Qiu-Yuan
AU  - Xia QY
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China.
FAU - Ni, Hao
AU  - Ni H
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical 
      Medical College, Nanjing Medical University, Nanjing, Jiangsu, China.
FAU - Ye, Sheng-Bing
AU  - Ye SB
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China.
FAU - Li, Rui
AU  - Li R
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China.
FAU - Wang, Xuan
AU  - Wang X
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China.
FAU - Shi, Shan-Shan
AU  - Shi SS
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China.
FAU - Zhou, Xiao-Jun
AU  - Zhou XJ
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical 
      Medical College, Nanjing Medical University, Nanjing, Jiangsu, China.
FAU - Rao, Qiu
AU  - Rao Q
AD  - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of 
      Medicine, Nanjing, Jiangsu, China; Department of Pathology, Jinling Clinical 
      Medical College, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic 
      address: raoqiu1103@126.com.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20170314
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (PTB-Associated Splicing Factor)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Adult
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
MH  - Biomarkers, Tumor/analysis/*genetics
MH  - Biopsy
MH  - Carcinoma, Renal Cell/chemistry/*genetics/pathology
MH  - Chromosomes, Human, Pair 11
MH  - Diagnosis, Differential
MH  - Female
MH  - *Gene Fusion
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - PTB-Associated Splicing Factor/*genetics
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Retrospective Studies
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - Mesenchymal neoplasm
OT  - Morphology
OT  - Renal cell carcinoma
OT  - SFPQ
OT  - TFE3
EDAT- 2017/03/21 06:00
MHDA- 2017/09/12 06:00
CRDT- 2017/03/19 06:00
PHST- 2017/01/02 00:00 [received]
PHST- 2017/02/06 00:00 [revised]
PHST- 2017/02/24 00:00 [accepted]
PHST- 2017/03/21 06:00 [pubmed]
PHST- 2017/09/12 06:00 [medline]
PHST- 2017/03/19 06:00 [entrez]
AID - S0046-8177(17)30073-4 [pii]
AID - 10.1016/j.humpath.2017.02.022 [doi]
PST - ppublish
SO  - Hum Pathol. 2017 May;63:190-200. doi: 10.1016/j.humpath.2017.02.022. Epub 2017 
      Mar 14.