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A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2.

Abstract
The initial cytogenetic analysis of a biphasic synovial sarcoma revealed complex anomalies involving six different chromosomes: 46,Y,t(X;18;5;4)(p11;q11;p13;q12),t(2;5)(q35;q11). After fluorescence in situ hybridization (FISH) analysis, using chromosome X-specific plasmid library and YAC probes, the situation appeared to be even more complex, with an insertion of part of the X chromosome short arm into the der(5)t(5;18). In spite of these complex chromosomal rearrangements, the Xp11 breakpoint could be mapped to within the ornithine aminotransferase (OAT)L1 cluster, very similar to that reported previously for the standard t(X;18)(p11;q11) in synovial sarcomas. These findings suggest common pathogenetic pathways in these cytogenetically different but morphologically similar tumors.
AuthorsD Olde Weghuis, M E Stoepker, B de Leeuw, E van den Berg, R F Suijkerbuijk, W M Molenaar, B de Jong, A Geurts van Kessel
JournalGenes, chromosomes & cancer (Genes Chromosomes Cancer) Vol. 9 Issue 4 Pg. 288-91 (Apr 1994) ISSN: 1045-2257 [Print] United States
PMID7519051 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Ornithine-Oxo-Acid Transaminase
Topics
  • Adult
  • Chromosomes, Human, Pair 18 (ultrastructure)
  • Chromosomes, Human, Pair 2 (ultrastructure)
  • Chromosomes, Human, Pair 4 (ultrastructure)
  • Chromosomes, Human, Pair 5 (ultrastructure)
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Ornithine-Oxo-Acid Transaminase (genetics)
  • Sarcoma, Synovial (genetics)
  • Soft Tissue Neoplasms (genetics)
  • Tendons
  • Thigh
  • Translocation, Genetic
  • X Chromosome (ultrastructure)

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