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Monosomy 3 and trisomy 8: Recurrent chromosomal abnormalities associated with uveal melanoma
Abstracts
123
B
11 CYTOGENETIC ANALYSIS OF FRESH MELANOMA
SPECIMENS FROM HUMAN BRAIN AND OTHER METASTATIC SITES. H.G. Morse, R. Gonzalez, R. Gemmill and W.A. Robinson. U. Colo. Cancer Ctr., U. Colo. Hlth. Sci. Ctr., Denver CO 80262 Twelve malignant melanoma specimens from ten patients were analyzed for cytogenetic abnormalities. Nine of these came from brain metastases, while three came from other metastatic sites. Chromosome 1 was affected in all specimens except one, while aberrations in chromosome 8 were present in six of ten patients. In one patient there was a small translocation to 8p; ~n two patients there were multiple copies of isochromosome 8q; a fourth patient showed five copies of a normal chromosome 8; and there were two patients with a translocation 6p to 8q. A translocation to pl 3 of chromosome 19 occurred in the clonal karyotypes of three patients. Instead of the previously reported t(1 ;19), 12q and two different, unidentified chromosomal segments were translocated to the p13 region of 19 near the location of the insulin receptor gene. Of two patients with two sequential specimens analyzed, one patient had essentially the same karyotype from the left and dght sides of the brain. The second patient had a hypertriploid karyotype in the first brain specimen; two months later, in addition to the hypertriploid clone, he had a pseudodiploid clone with no apparent relationship to the first clone. This finding contrasts with previous reports where, for most patients, successive sampling yielded clones with derivative and marker chromosomes common to all specimens. This work was made'possible through the Cytogenetics Core of the University of Colorado Cancer Center NCI Grant #5P30CA46934-03.
B 12 3ANDTRISOMY 8: RECURRENT CHROMOSOMAL ABNORMALITIES ASSOCIATED WITH U V E A L MELANOMA. Horsman DE, White VA: Cytogenetic Laboratory, British Columbia Cancer Agency; Department of Pathology, Vancouver General Hospital; and the University of British Columbia, Vancouver, B.C. Canada Uveal melanoma (UM) is the most common intraocular cancer of adults (1:200,000). Few cytogenetic studies of UM have been reported. We have undez-taken cytogenetic studies of a prospective series of u~treated UMs and UMs requiring removal following radioactive plaque treatment. Short-term cultures yielded abundant growth of fusiform and stellate cells with numerous pi~men~ granules. Sufficient metaphases for analysis were obtained in 8 of 9 untreated and 4 of 5 treated lesions. The un~reated UMs were characterized by -3 or 3q-[7 of 8 cases]~ +8, +eq or i(eq) [6 of 8]; del(6q) [3 of 8]. The treated UMs were characterized by -3 or 3g- [2 of 4]; +8 [2 of 4]; double minutes, tetraploid sublines and telomeric associations [3 of 4]. This study provides strong evidence that loss of genes on chromosome 3 and duplication of genes on chromosome 8 are
MONOSOMY
123
B
11 CYTOGENETIC ANALYSIS OF FRESH MELANOMA
SPECIMENS FROM HUMAN BRAIN AND OTHER METASTATIC SITES. H.G. Morse, R. Gonzalez, R. Gemmill and W.A. Robinson. U. Colo. Cancer Ctr., U. Colo. Hlth. Sci. Ctr., Denver CO 80262 Twelve malignant melanoma specimens from ten patients were analyzed for cytogenetic abnormalities. Nine of these came from brain metastases, while three came from other metastatic sites. Chromosome 1 was affected in all specimens except one, while aberrations in chromosome 8 were present in six of ten patients. In one patient there was a small translocation to 8p; ~n two patients there were multiple copies of isochromosome 8q; a fourth patient showed five copies of a normal chromosome 8; and there were two patients with a translocation 6p to 8q. A translocation to pl 3 of chromosome 19 occurred in the clonal karyotypes of three patients. Instead of the previously reported t(1 ;19), 12q and two different, unidentified chromosomal segments were translocated to the p13 region of 19 near the location of the insulin receptor gene. Of two patients with two sequential specimens analyzed, one patient had essentially the same karyotype from the left and dght sides of the brain. The second patient had a hypertriploid karyotype in the first brain specimen; two months later, in addition to the hypertriploid clone, he had a pseudodiploid clone with no apparent relationship to the first clone. This finding contrasts with previous reports where, for most patients, successive sampling yielded clones with derivative and marker chromosomes common to all specimens. This work was made'possible through the Cytogenetics Core of the University of Colorado Cancer Center NCI Grant #5P30CA46934-03.
B 12 3ANDTRISOMY 8: RECURRENT CHROMOSOMAL ABNORMALITIES ASSOCIATED WITH U V E A L MELANOMA. Horsman DE, White VA: Cytogenetic Laboratory, British Columbia Cancer Agency; Department of Pathology, Vancouver General Hospital; and the University of British Columbia, Vancouver, B.C. Canada Uveal melanoma (UM) is the most common intraocular cancer of adults (1:200,000). Few cytogenetic studies of UM have been reported. We have undez-taken cytogenetic studies of a prospective series of u~treated UMs and UMs requiring removal following radioactive plaque treatment. Short-term cultures yielded abundant growth of fusiform and stellate cells with numerous pi~men~ granules. Sufficient metaphases for analysis were obtained in 8 of 9 untreated and 4 of 5 treated lesions. The un~reated UMs were characterized by -3 or 3q-[7 of 8 cases]~ +8, +eq or i(eq) [6 of 8]; del(6q) [3 of 8]. The treated UMs were characterized by -3 or 3g- [2 of 4]; +8 [2 of 4]; double minutes, tetraploid sublines and telomeric associations [3 of 4]. This study provides strong evidence that loss of genes on chromosome 3 and duplication of genes on chromosome 8 are
MONOSOMY