Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.
The cytogenetic and in vitro growth characteristics of 3 cases of extraskeletal myxoid chondrosarcoma (EMC) are described. In cell culture, the tumor cells retained the immunocytochemical and ultrastructural characteristics of EMC. Cytogenetically, 2 of the cases showed an apparently identical t(9;22)(q22;q12). In one case, the t(9;22) was found together with a dup(I)(q12q44), and in the other case it was found together with several other aberrations. The third case had an inv(10)(p11.2q22) as the sole karyotypic abnormality. Of 4 cases of EMC previously analyzed, 2 showed a t(9;22)(q22;q11-12) and one case of a t(9;22;15)(q31;q12.2;q25). Thus, 5 out of 7 cases of EMC showed recombination between 9q22-31 and 22q11-12, indicating that this represents a tumor specific abnormality. The breakpoints on 22q were in all 5 cases cytogenetically indistinguishable from those seen in Ewing's sarcoma with t(11;22), clear-cell sarcoma with t(12;22), and desmoplastic small round cell tumors with t(11;22). Molecular cloning of these translocation breakpoints revealed involvement of the EWS gene (located at 22q12) in all 3 tumor types. These observations raise the intriguing question of whether the EWS gene might also be involved in the t(9;22) in EMC.
Stenman
G
G
Department of Pathology, Göteborg University, Sahlgrenska Hospital, Sweden.
Andersson
H
H
Mandahl
N
N
Meis-Kindblom
J M
JM
Kindblom
L G
LG
D000368:Aged; D002081:Buttocks; D002813:Chondrosarcoma / Q000235:genetics* / Q000473:pathology / Q000556:secondary; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D013848:Thigh; D014178:Translocation, Genetic