PMID- 26415891
OWN - NLM
STAT- MEDLINE
DCOM- 20160314
LR  - 20191210
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 10
DP  - 2015 Sep 29
TI  - Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 
      translocation renal cell carcinoma and alveolar soft part sarcoma.
PG  - 179
LID - 10.1186/s13000-015-0412-z [doi]
LID - 179
AB  - BACKGROUND: Xp11.2 or TFE3 translocation renal cell carcinomas (RCC) and alveolar 
      soft part sarcoma (ASPS) are characterized by chromosome translocations involving 
      the Xp11.2 breakpoint resulting in transcription factor TFE3 gene fusions. The 
      most common translocations documented in TFE3 RCCs are t(X;1) (p11.2;q21) and 
      t(X;17) (p11.2;q25) which leads to fusion of TFE3 gene on Xp11.2 with PRCC or 
      ASPL respectively. TFE3 immunohistochemistry (IHC) has been inconsistent over 
      time due to background staining problems in part related to fixation issues. 
      Karyotyping to detect TFE3 gene rearrangement requires typically unavailable 
      fresh tissue. Reverse transcriptase-polymerase chain reaction (RT-PCR) is 
      generally very challenging due to degradation of RNA in archival material. The 
      study objective was to develop and validate a TFE3 break-apart fluorescence in 
      situ hybridization (FISH) assay to confirm Xp11 translocation RCCs and ASPS. 
      METHODS: Representative sections of formalin-fixed paraffin-embedded tissue 
      blocks were selected in 40 possible cases. Approximately 60 tumor cells were 
      analyzed in the targeted region. The validation of TFE3 FISH was done with 11 
      negative and two positive cases. Cut off for a positive result was validated as 
      >7.15 % positive nuclei with any pattern of break-apart signals. FISH evaluation 
      was done blinded of the immunohistochemical or karyotype data. RESULTS: Three out 
      of forty cases were positive for the TFE3 break-apart signals by FISH. The 
      negative cases were reported as clear cell RCC with papillary features (10), 
      clear cell RCC with sarcomatoid areas (2), Papillary RCC with clear cell areas 
      (9), Chromophobe RCC (2), RCC, unclassified type (3) and renal medullary 
      carcinoma (1). 3 of the negative cases were consultation cases for renal tumor 
      with unknown histology. Seven negative cases were soft tissue tumor suspicious 
      for ASPS. CONCLUSION: Our study validates the utility of TFE3 break-apart FISH on 
      formalin-fixed paraffin-embedded tissue sections for diagnosis and confirmation 
      of Xp11.2 translocation RCCs and ASPS.
FAU - Pradhan, Dinesh
AU  - Pradhan D
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. pradhand@upmc.edu.
FAU - Roy, Somak
AU  - Roy S
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. roys@upmc.edu.
FAU - Quiroga-Garza, Gabriela
AU  - Quiroga-Garza G
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. gamaquiga@gmail.com.
FAU - Cieply, Kathleen
AU  - Cieply K
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. cieplykm@upmc.edu.
FAU - Mahaffey, Alyssa L
AU  - Mahaffey AL
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. luvisonam@upmc.edu.
FAU - Bastacky, Sheldon
AU  - Bastacky S
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. bastackysi@upmc.edu.
FAU - Dhir, Rajiv
AU  - Dhir R
AD  - Department of Pathology, University of Pittsburgh Medical Center, 200 Lothrop 
      Street, Pittsburgh, 15213, PA, USA. dhirr@upmc.edu.
FAU - Parwani, Anil V
AU  - Parwani AV
AD  - Wexner Medical Center, The Ohio State University, Columbus, 43210, OH, USA. 
      Anil.Parwani@osumc.edu.
LA  - eng
GR  - P30 DK079307/DK/NIDDK NIH HHS/United States
GR  - UL1 TR000005/TR/NCATS NIH HHS/United States
PT  - Journal Article
PT  - Validation Study
DEP - 20150929
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*metabolism
MH  - Carcinoma, Renal Cell/*pathology
MH  - Chromosomes, Human, X/metabolism
MH  - Gene Rearrangement/genetics
MH  - Humans
MH  - Immunohistochemistry/methods
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Kidney Neoplasms/*pathology
MH  - Sarcoma, Alveolar Soft Part/diagnosis/*pathology
MH  - Soft Tissue Neoplasms/*genetics
MH  - *Translocation, Genetic
PMC - PMC4587681
EDAT- 2015/09/30 06:00
MHDA- 2016/03/15 06:00
PMCR- 2015/09/29
CRDT- 2015/09/30 06:00
PHST- 2015/08/24 00:00 [received]
PHST- 2015/09/20 00:00 [accepted]
PHST- 2015/09/30 06:00 [entrez]
PHST- 2015/09/30 06:00 [pubmed]
PHST- 2016/03/15 06:00 [medline]
PHST- 2015/09/29 00:00 [pmc-release]
AID - 10.1186/s13000-015-0412-z [pii]
AID - 412 [pii]
AID - 10.1186/s13000-015-0412-z [doi]
PST - epublish
SO  - Diagn Pathol. 2015 Sep 29;10:179. doi: 10.1186/s13000-015-0412-z.