PMID- 15101049
OWN - NLM
STAT- MEDLINE
DCOM- 20040727
LR  - 20131121
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 40
IP  - 2
DP  - 2004 Jun
TI  - A fluorescence in situ hybridization study of ETV6-NTRK3 fusion gene in secretory 
      breast carcinoma.
PG  - 152-7
AB  - The translocation t(12;15)(p13;q25), in which the ETV6 gene from chromosome 12 is 
      rearranged with the NTRK3 gene from chromosome 15, has recently been identified 
      in secretory breast carcinoma (SBC). This fusion gene was initially described in 
      congenital fibrosarcoma and congenital mesoblastic nephroma. The biological 
      consequence of this translocation is the expression of a chimeric protein 
      tyrosine kinase with potent transforming activity. To assess the frequency of 
      t(12;15)(p13;q25) in breast cancer, we developed complementary probe sets (fusion 
      and split-apart probes) for the detection of this translocation by fluorescence 
      in situ hybridization (FISH) in paraffin-embedded, formalin-fixed tissue 
      sections. We tested four histologically confirmed cases of SBC for the presence 
      of the ETV6-NTRK3 gene fusion and then applied the FISH assay to tissue 
      microarrays (TMAs) in order to screen 481 cases of formalin-fixed, 
      paraffin-embedded invasive breast carcinomas of various histologic subtypes. 
      Three of the four cases of SBC revealed fusion signals. Of the 481 cases in the 
      TMAs, 202 gave signals of sufficient quality for screening by FISH, and only one 
      case showed fusion signals in most or all of the tumor cells. On review of the 
      histology of this case, SBC was confirmed. On the other hand, none of the 
      fusion-negative breast cancers revealed SBC histology. In all cases, the results 
      from the fusion and split-apart FISH assays for the ETV6-NTRK3 fusion genes were 
      concordant. Our data suggest that the ETV6-NTRK3 fusion gene is a specific 
      genetic alteration in SBC.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Makretsov, Nikita
AU  - Makretsov N
AD  - Genetic Pathology Evaluation Centre of Department of Pathology and Prostate 
      Centre, British Columbia Cancer Agency, Vancouver General Hospital, University of 
      British Columbia, Vancouver, British Columbia, Canada.
FAU - He, May
AU  - He M
FAU - Hayes, Malcolm
AU  - Hayes M
FAU - Chia, Stephen
AU  - Chia S
FAU - Horsman, Doug E
AU  - Horsman DE
FAU - Sorensen, Poul H B
AU  - Sorensen PH
FAU - Huntsman, David G
AU  - Huntsman DG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (ETV6-NTRK3 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 1HG84L3525 (Formaldehyde)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Breast Neoplasms/*genetics/pathology
MH  - Carcinoma/*genetics/pathology
MH  - Chromosome Breakage/genetics/immunology
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Female
MH  - Formaldehyde/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Paraffin Embedding
MH  - Tissue Fixation
MH  - Translocation, Genetic/genetics
EDAT- 2004/04/22 05:00
MHDA- 2004/07/28 05:00
CRDT- 2004/04/22 05:00
PHST- 2004/04/22 05:00 [pubmed]
PHST- 2004/07/28 05:00 [medline]
PHST- 2004/04/22 05:00 [entrez]
AID - 10.1002/gcc.20028 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2004 Jun;40(2):152-7. doi: 10.1002/gcc.20028.