t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: evaluation of three cases.
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.
Sciot
R
R
Department of Pathology, University Hospitals, Leuven, Belgium.
Dal Cin
P
P
Fletcher
C
C
Samson
I
I
Smith
M
M
De Vos
R
R
Van Damme
B
B
Van den Berghe
H
H
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002467:Cell Nucleus / Q000648:ultrastructure; D002813:Chondrosarcoma / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003593:Cytoplasm / Q000648:ultrastructure; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007621:Karyotyping; D018208:Liposarcoma, Myxoid / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic