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Cytogenetic analysis of uveal melanoma consistent occurrence of monosomy 3 and trisomy 8q
Author(s) -
Horsman Douglas E.,
White Valerie A.
Publication year - 1993
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/1097-0142(19930201)71:3<811::aid-cncr2820710325>3.0.co;2-f
Subject(s) - monosomy , trisomy , pathology , melanoma , aneuploidy , karyotype , cytogenetics , cancer research , biology , chromosome , medicine , chromosome 7 (human) , genetics , gene
Background . The genetic alterations associated with the pathogenesis of uveal melanoma have not been determined. To address this issue, the authors performed a prospective cytogenetic study of 35 uveal melanomas, including 23 primary untreated tumors and 12 tumors that were removed after local radiation therapy. Methods . Representative tumor tissue was processed by established methods for histopathologic and cytogenetic studies. Tumor cells were disaggregated and established in short‐term culture; metaphases were prepared by standard methods for karyotypic analysis. Results . Successful analyses were achieved in 27 of the tumor specimens, including 20 of 23 tumors not exposed to radiation and 7 of 12 tumors exposed to radiation. All of the tumors had an abnormal karyotype. Recurrent chromosomal abnormalities detected in the tumors not exposed to radiation included monosomy 3 (13 of 20), trisomy 8 or 8q (11 of 20), loss of a sex chromosome (10 of 20), and loss of 6q (8 of 20). The tumors previously exposed to radiation were characterized by more complex changes, with monosomy 3 and trisomy 8q detected in three cases each. Conclusions . Uveal melanoma is characterized by monosomy 3 and trisomy 8q in most cases. These findings, which are supported by data from other investigators, provide compelling evidence that loss of gene sequences on chromosome 3 and duplication of gene sequences on chromosome 8 are implicated in the genetic alterations associated with uveal melanoma and offer a basis for additional molecular genetic investigations.