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Title: t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: evaluation of three cases
Authors: Sciot, Raphael ×
Dal Cin, Paola
Fletcher, C
Samson, Ignace
Smith, M
De Vos, Rita
Van Damme, Boudewijn
Van den Berghe, Herman #
Issue Date: Sep-1995
Series Title: Modern Pathology vol:8 issue:7 pages:765-8
Abstract: Three cases of extraskeletal myxoid chondrosarcoma with typical histologic and ultrastructural features were investigated cytogenetically. All three cases showed a reciprocal chromosome translocation characterized as t(9;22)(q22-31)(q11-12), thus confirming the findings in three previously karyotyped cases of extraskeletal myxoid chondrosarcoma in the literature. These data add significantly to the evidence of t(9;22) being diagnostic for extraskeletal myxoid chondrosarcoma. Other previously published cases with a range of complex karyotypes were less well defined morphologically. In cases with limited diagnostic material this karyotype might facilitate distinction from myxoid liposarcoma, which consistently shows t(12;16). Clear cell sarcoma, Ewing's sarcoma/primitive neuroectodermal tumor, and desmoplastic round cell tumor also show involvement of chromosome 22 with formation of a hybrid gene between the Ewing's sarcoma gene on band q12 and a transcription factor gene. Whether rearrangement of the Ewing's sarcoma gene is also present in extraskeletal myxoid chondrosarcoma is not clear at present. Cloning of the (9;22) translocation might provide important clues to the pathogenesis of this type of chondrosarcoma.
ISSN: 0893-3952
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Clinical Genetics Section (-)
Orthopaedics Section (-)
× corresponding author
# (joint) last author

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