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Interphase cytogenetic analysis of distinct X‐chromosomal translocation breakpoints in synovial sarcoma
Author(s) -
Janz Martin,
de Leeuw Bertie,
Weghuis Danielle Olde,
Werner Martin,
Nolte Martina,
van Kessel Ad Geurts,
Nordheim Alfred,
Hipskind Robert A.
Publication year - 1995
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1711750405
Subject(s) - breakpoint , synovial sarcoma , biology , chromosomal translocation , fluorescence in situ hybridization , interphase , cytogenetics , centromere , chromosome , sarcoma , microbiology and biotechnology , comparative genomic hybridization , pathology , genetics , medicine , gene
Synovial sarcomas show a specific translocation involving chromosomes X and 18, t(X;18)(p11.2;q11.2). Two distinct X‐chromosomal breakpoints occur in different synovial sarcoma tumour samples. These breakpoints are located within two related genomic regions containing ornithine aminotransferase‐like sequences, termed OATAL1 and OATL2. Preliminary observations indicated the potential correlation of OATL1‐associated breakpoints with biphasic tumours and OATL2‐associated breakpoints with monophasic fibrous tumours. The present study uses interphase cytogenetics to investigate the nature of chromosomal aberrations in frozen synovial sarcoma tissue samples. Two‐colour fluorescence in situ hybridization (FISH) was performed using probes specific for the centromeres of chromosome X or 18, along with yeast artificial chromosome probes corresponding to the distinct breakpoint regions on Xp. One monophasic epithelial and two monophasic fibrous synovial sarcomas showed an OATL2‐associated breakpoint, while a biphasic tumour revealed a hybridization pattern indicating a breakpoint within the OATL1 region. These results confirm our previous suggestion of a relationship between alternative breakpoints in Xp11.2 and different histological phenotypes observed in synovial sarcomas. They also demonstrate the utility of the two‐colour hybridization approach for the identification of chromosomal changes in interphase nuclei isolated from frozen tissues.