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Masked t(X;18)(p11;q11) in a biphasic synovial sarcoma revealed by FISH and RT‐PCR
Author(s) -
van Kessel A. Geurts,
de Bruijn D.,
Hermsen L.,
Janssen I.,
dos Santos N. R.,
Willems R.,
Makkus L.,
Schreuder H.,
Veth R.
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199810)23:2<198::aid-gcc15>3.0.co;2-k
Subject(s) - synovial sarcoma , chromosomal translocation , karyotype , fish <actinopterygii> , biology , primer (cosmetics) , sarcoma , fusion transcript , fusion gene , myeloid leukemia , chromosome , microbiology and biotechnology , cancer research , pathology , genetics , gene , medicine , chemistry , organic chemistry , fishery
The initial cytogenetic analysis of a biphasic synovial sarcoma showed an apparently normal karyotype. After FISH using chromosome X‐ and 18‐specific probes and RT‐PCR using SYT ‐ and SSX ‐specific primer sets, a cryptic synovial sarcoma‐associated t(X;18)(p11;q11) could be revealed. The “masked” nature of the translocation may best be explained by a two‐step scenario in which a genuine t(X;18)(p11;q11) has occurred as a first step and a reverse reciprocal X;18 translocation as a second step, leaving the synovial sarcoma‐associated SYT – SSX1 fusion intact. The findings further underline our previous suggestion that SYT – SSX1 fusions may correlate with a biphasic nature of the tumor. In addition, our findings indicate that, in analogy to, e.g., the Philadelphia translocation in chronic myeloid leukemia, “masked” translocations may occur in soft tissue tumors and that, as a standard, RT‐PCR and/or FISH analyses should be carried out in order to provide karyotypic information that may be relevant to tumor diagnosis and/or prognosis. Genes Chromosomes Cancer 23:198–201, 1998. © 1998 Wiley‐Liss, Inc.