PMID- 21773754
OWN - NLM
STAT- MEDLINE
DCOM- 20111109
LR  - 20211020
IS  - 1432-2307 (Electronic)
IS  - 0945-6317 (Linking)
VI  - 459
IP  - 3
DP  - 2011 Sep
TI  - Usefulness of a break-apart FISH assay in the diagnosis of Xp11.2 translocation 
      renal cell carcinoma.
PG  - 299-306
LID - 10.1007/s00428-011-1127-5 [doi]
AB  - Xp11.2 translocation renal cell carcinoma (RCC) is a rare subtype of RCC 
      predominantly reported in young patients. It results from gene fusions between 
      the transcription factor E3 (TFE3) gene, which is located on chromosome Xp11.2, 
      and various fusion partners. Recently, a dual color, break-apart fluorescence in 
      situ hybridization (FISH) assay to detect Xp11.2 translocation was reported. We 
      performed this study to evaluate the usefulness of the FISH assay in the 
      diagnosis of Xp11.2 translocation RCC using a commercially available TFE3 
      break-apart probe. We immunohistochemically analyzed TFE3 nuclear expression in 
      809 cases of RCCs using 14 tissue microarray blocks and selected nine cases those 
      showed moderate to strong positive nuclear immunoreactivity for TFE3. The extent 
      of TFE3 nuclear expression was variable. The TFE3 FISH assay was performed in 
      these 9 selected cases and 44 negative control cases. Only four out of nine 
      selected cases showed the TFE3 break-apart signal. TFE3 FISH-positive cases 
      mainly showed diffuse and strong TFE3 immunopositivity, but one case revealed 
      focal and moderate TFE3 staining. On the contrary, TFE3 FISH-negative cases 
      mainly revealed focal and moderate TFE3 immunoreactivity, however, one 
      FISH-negative case revealed diffuse and strong TFE3 nuclear immunopositivity. All 
      negative control cases revealed normal TFE3 FISH results. Our results reveal that 
      TFE3 immunohistochemistry can show false-positive results, and that the TFE3 
      break-apart FISH assay is a useful complementary method for confirming the 
      diagnosis of Xp11.2 translocation RCC.
FAU - Kim, Soo Hee
AU  - Kim SH
AD  - Department of Pathology and Kidney Research Institute, Medical Research Center, 
      Seoul National University College of Medicine, 28 Chongno-gu Yongon-dong, Seoul, 
      110-799, South Korea.
FAU - Choi, Yoomi
AU  - Choi Y
FAU - Jeong, Hae Yeon
AU  - Jeong HY
FAU - Lee, Kyoungbun
AU  - Lee K
FAU - Chae, Ji Youn
AU  - Chae JY
FAU - Moon, Kyung Chul
AU  - Moon KC
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110720
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (TFE3 protein, human)
SB  - IM
MH  - Adult
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics/metabolism
MH  - Carcinoma, Renal Cell/*diagnosis/*genetics/metabolism
MH  - Child
MH  - Chromosome Breakage
MH  - Chromosomes, Human, X/*genetics
MH  - Humans
MH  - Immunohistochemistry/methods
MH  - In Situ Hybridization, Fluorescence/*methods/standards
MH  - Kidney Neoplasms/*diagnosis/*genetics/metabolism
MH  - Male
MH  - Middle Aged
MH  - Staining and Labeling
MH  - *Translocation, Genetic
EDAT- 2011/07/21 06:00
MHDA- 2011/11/10 06:00
CRDT- 2011/07/21 06:00
PHST- 2011/02/23 00:00 [received]
PHST- 2011/04/08 00:00 [accepted]
PHST- 2011/04/07 00:00 [revised]
PHST- 2011/07/21 06:00 [entrez]
PHST- 2011/07/21 06:00 [pubmed]
PHST- 2011/11/10 06:00 [medline]
AID - 10.1007/s00428-011-1127-5 [doi]
PST - ppublish
SO  - Virchows Arch. 2011 Sep;459(3):299-306. doi: 10.1007/s00428-011-1127-5. Epub 2011 
      Jul 20.