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The human cancer chromosome registry
Abstracts 23
161 CYTOGENETIC ANALYSIS OF HUMAN GIANT-CELL TUMOR OF BONE. R. Noguera, R. Gil, C. L6pez-Gin6s, A. Pellin, and A. Llombart-Bosch. Department of Pathology. Medical School. 46010 Valencia, Spain.
We have performed a cytogenetic study of a giant-cell tumor of bone and found a reciprocal translocation, t(12;19)(q13;q15), as a primary chromosomal change. The patient was a 36 year-old white female whose original tumor developed in the right knee and was histologically diagnosed as osteoclastoma. The tumor was minced and treated with collagenase to establish short-term culture. Cultures were harvested between 7 and 27 days. Cytogenetic analysis showed two clonal cell populations with modal chromosome numbers 44 and 45. The translocation, t(12;19) was found in both populations (15 cells analyzed). Metaphases with normal female karyotype were also obtained. We placed the breakpoint on chromosome 12 at q13. This breakpoint is preferentially involved in several other neoplasia-associated chromosome aberrations. If further data show a correlation of biologic behavior and karyotype, giant-cell tumor of bone may be added to the growing list of neoplasms in which cytogenetics is helpful for diagnosis and prognosis. Supported in part by the Social Security Cooperation (Exp. 88/0146)
24
THE HUMAN CANCER CHROMOSOME REGISTRY. Felix Mitelman. University of Lund, Lund, Sweden.
The Human Cancer Chromosome Registry [1] is continuously updated. By January 1988 the Registry contained information on clonal chromosomal abnormalities identified by banding techniques in 9,069 neoplasms. The great majority of the material has been collected from published cases reported in 2,156 references; about 5% of the neoplasms are unpublished cases of particular cytogenetic or clinical interest. Solid tumors comprise about 15% of the total data base; the distribution according to histopathology is presented below. Tumor type No. of cases Benign epithelial neoplasms 82 Malignant epithelial neoplasms 668 Germ cell neoplasms 44 Benign mesenchymal neoplasms 50 Malignant mesenchymal neoplasms 140 Benign neurogenic neoplasms 130 Malignant neurogenic neoplasms 224 Melanocytic neoplasms 58 Neoplasms of unspecified histogenesis 2 REI~RENCE 1. Mitelman F (1988): Catalog of Chromosome Aberrations in Cancer, 3rd Ed., Alan R. Liss, New York, 1988.
25
CYTOGENETIC AND MOLECULAR CORRELATES OF GENE AMPLIFICATION IN HUMAN AND EXPERIMENTAL CANCERS. Jeffrey M. Trent, Ph.D. Arizona Cancer Center, Tucson AZ 85724, USA.
Amplification of cellular genes (e.g. oncogenes and drug resistant sequences) has been described in both tumor cell lines and primary tumors. The knowledge that expression of genes is dramatically increased by their amplification, coupled with evidence that overexpression of certain genes contributes to altered growth regulation, suggests that further work in this area is warranted. One element common to the analysis of amplified DNA domains is the finding of two categories of cytologicallyrecognizable chromosome alteral ~ons di~'ectly resulting from the amplification eventudouble minutes (DMs) and homogeneously staining regions (HSRs). We have selectively utilized cell populations for molecular biologic analysis based on cytologic evidence of gene amplification. Tumors are studied by a combined molecular/cytogenetic approach to examine the relationship of chromosomal rearrangements, gene amplification, and gene expression in these tumors. Using a modified ingel renaturation procedure, we have begun a screening program to detect DNA sequence amplification in a variety of tumors. With this method, amplification of -~10-fold can be detected without prior knowledge of the target gene. Specific discussion of the amplification of known cellular oncogenes as well as the preliminary identification of a novel amplified gene sequence will be described.
161 CYTOGENETIC ANALYSIS OF HUMAN GIANT-CELL TUMOR OF BONE. R. Noguera, R. Gil, C. L6pez-Gin6s, A. Pellin, and A. Llombart-Bosch. Department of Pathology. Medical School. 46010 Valencia, Spain.
We have performed a cytogenetic study of a giant-cell tumor of bone and found a reciprocal translocation, t(12;19)(q13;q15), as a primary chromosomal change. The patient was a 36 year-old white female whose original tumor developed in the right knee and was histologically diagnosed as osteoclastoma. The tumor was minced and treated with collagenase to establish short-term culture. Cultures were harvested between 7 and 27 days. Cytogenetic analysis showed two clonal cell populations with modal chromosome numbers 44 and 45. The translocation, t(12;19) was found in both populations (15 cells analyzed). Metaphases with normal female karyotype were also obtained. We placed the breakpoint on chromosome 12 at q13. This breakpoint is preferentially involved in several other neoplasia-associated chromosome aberrations. If further data show a correlation of biologic behavior and karyotype, giant-cell tumor of bone may be added to the growing list of neoplasms in which cytogenetics is helpful for diagnosis and prognosis. Supported in part by the Social Security Cooperation (Exp. 88/0146)
24
THE HUMAN CANCER CHROMOSOME REGISTRY. Felix Mitelman. University of Lund, Lund, Sweden.
The Human Cancer Chromosome Registry [1] is continuously updated. By January 1988 the Registry contained information on clonal chromosomal abnormalities identified by banding techniques in 9,069 neoplasms. The great majority of the material has been collected from published cases reported in 2,156 references; about 5% of the neoplasms are unpublished cases of particular cytogenetic or clinical interest. Solid tumors comprise about 15% of the total data base; the distribution according to histopathology is presented below. Tumor type No. of cases Benign epithelial neoplasms 82 Malignant epithelial neoplasms 668 Germ cell neoplasms 44 Benign mesenchymal neoplasms 50 Malignant mesenchymal neoplasms 140 Benign neurogenic neoplasms 130 Malignant neurogenic neoplasms 224 Melanocytic neoplasms 58 Neoplasms of unspecified histogenesis 2 REI~RENCE 1. Mitelman F (1988): Catalog of Chromosome Aberrations in Cancer, 3rd Ed., Alan R. Liss, New York, 1988.
25
CYTOGENETIC AND MOLECULAR CORRELATES OF GENE AMPLIFICATION IN HUMAN AND EXPERIMENTAL CANCERS. Jeffrey M. Trent, Ph.D. Arizona Cancer Center, Tucson AZ 85724, USA.
Amplification of cellular genes (e.g. oncogenes and drug resistant sequences) has been described in both tumor cell lines and primary tumors. The knowledge that expression of genes is dramatically increased by their amplification, coupled with evidence that overexpression of certain genes contributes to altered growth regulation, suggests that further work in this area is warranted. One element common to the analysis of amplified DNA domains is the finding of two categories of cytologicallyrecognizable chromosome alteral ~ons di~'ectly resulting from the amplification eventudouble minutes (DMs) and homogeneously staining regions (HSRs). We have selectively utilized cell populations for molecular biologic analysis based on cytologic evidence of gene amplification. Tumors are studied by a combined molecular/cytogenetic approach to examine the relationship of chromosomal rearrangements, gene amplification, and gene expression in these tumors. Using a modified ingel renaturation procedure, we have begun a screening program to detect DNA sequence amplification in a variety of tumors. With this method, amplification of -~10-fold can be detected without prior knowledge of the target gene. Specific discussion of the amplification of known cellular oncogenes as well as the preliminary identification of a novel amplified gene sequence will be described.