PMID- 23715164
OWN - NLM
STAT- MEDLINE
DCOM- 20130919
LR  - 20191210
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 37
IP  - 8
DP  - 2013 Aug
TI  - Utilization of a TFE3 break-apart FISH assay in a renal tumor consultation 
      service.
PG  - 1150-63
LID - 10.1097/PAS.0b013e31828a69ae [doi]
AB  - Xp11 translocation renal cell carcinomas (RCCs) are characterized by chromosome 
      translocations involving the Xp11.2 breakpoint, resulting in gene fusions 
      involving the TFE3 transcription factor. In archival material, the diagnosis can 
      often be confirmed by TFE3 immunohistochemistry (IHC), but variable fixation 
      (especially prevalent in consultation material) can lead to equivocal results. A 
      TFE3 break-apart fluorescence in situ hybridization (FISH) assay has been 
      developed to detect TFE3 gene rearrangements; however, the utility of this assay 
      in a renal tumor consultation practice has not been examined. We reviewed 95 
      consecutive renal tumor consultation cases submitted to rule in or rule out Xp11 
      translocation RCC. Thirty-one cases were positive for TFE3 rearrangements by 
      FISH. Patients ranged from 6 to 67 years of age (mean=30 y; median=28 y). Novel 
      or distinctive morphologic features of these cases included extensive cystic 
      change simulating multilocular cystic RCC (3 cases), sarcomatoid transformation 
      (3 cases), oncocytic areas mimicking oncocytoma (1 case), trabecular architecture 
      mimicking a carcinoid tumor (1 case), colonization of renal pelvic urothelium 
      mimicking urothelial carcinoma in situ (1), and focal desmin and diffuse racemase 
      immunoreactivity (1 case each). Twenty-six of the 31 TFE3 FISH-positive RCCs were 
      unequivocally positive for TFE3 by IHC, but 4 were equivocal, and 1 was negative. 
      Of the 64 cases that were negative by TFE3 FISH, 50 were negative by TFE3 IHC, 
      and 14 were equivocal. Thirty-two of the 64 TFE3 FISH-negative cases could be 
      classified into other accepted RCC subtypes: 23 as clear cell RCC, 5 as papillary 
      RCC, 3 as clear cell papillary RCC, and 1 as chromophobe RCC. The other 32 cases 
      remained unclassified, including 3 cathepsin K-positive RCC that closely 
      resembled Xp11 translocation RCC. In conclusion, TFE3 FISH is highly useful in 
      renal tumor consultation material, often resolving cases with equivocal TFE3 IHC 
      results. Given the difficulty of optimizing TFE3 IHC, TFE3 FISH is for most 
      laboratories the optimal test for establishing the diagnosis of Xp11 
      translocation RCC.
FAU - Green, Whitney M
AU  - Green WM
AD  - Department of Pathology, Johns Hopkins Medical Intuitions, Baltimore, MD 21231, 
      USA.
FAU - Yonescu, Raluca
AU  - Yonescu R
FAU - Morsberger, Laura
AU  - Morsberger L
FAU - Morris, Kerry
AU  - Morris K
FAU - Netto, George J
AU  - Netto GJ
FAU - Epstein, Jonathan I
AU  - Epstein JI
FAU - Illei, Peter B
AU  - Illei PB
FAU - Allaf, Mohamad
AU  - Allaf M
FAU - Ladanyi, Marc
AU  - Ladanyi M
FAU - Griffin, Constance A
AU  - Griffin CA
FAU - Argani, Pedram
AU  - Argani P
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/analysis/*genetics
MH  - Biomarkers, Tumor/analysis/*genetics
MH  - Carcinoma, Renal Cell/chemistry/*genetics/pathology
MH  - Child
MH  - *Chromosomes, Human, X
MH  - Female
MH  - *Gene Rearrangement
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Immunohistochemistry
MH  - *In Situ Hybridization, Fluorescence
MH  - Kidney Neoplasms/chemistry/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Pathology, Clinical/*methods
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Prognosis
MH  - *Referral and Consultation
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2013/05/30 06:00
MHDA- 2013/09/21 06:00
CRDT- 2013/05/30 06:00
PHST- 2013/05/30 06:00 [entrez]
PHST- 2013/05/30 06:00 [pubmed]
PHST- 2013/09/21 06:00 [medline]
AID - 10.1097/PAS.0b013e31828a69ae [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2013 Aug;37(8):1150-63. doi: 10.1097/PAS.0b013e31828a69ae.