Detection of DNA gains and losses in primary endometrial carcinomas by comparative genomic hybridization

Comparative genomic hybridization (CGH) was used in a retrospective analysis of chromosomal imbalances in frozen primary tumor specimens from 14 endometrial carcinoma patients. Chromosome changes were detected in nine cases (64%), and tumor stage and grade tended to parallel the degree of genomic imbalances. Gain of the entire long arm of chromosome I was observed in six cases (43%), three of which displayed only this chromosome change. Other common sites of copy number increases included 8q21 → qter (4 cases), 10p15 (4 cases), 10q11 → q24 (3 cases), and 13q21 → qter (3 cases, each with stage III disease). Two of the tumors with gains of chromosome 10 involved the whole chromosome, and this was the sole abnormality in one case. DNA amplification at 5p14 → p15 was identified in one specimen, a stage III tumor having numerous imbalances. DNA microsatellite analysis revealed multiple replication errors (RER), indicative of the RER+ phenotype, in four of 13 (31%) cases evaluated. The RER+ phenotype was observed in four of six stage Ia tumors but in none of seven stage Ib or stage III tumors. Multiple genomic imbalances detected by CGH were not observed in RER+ tumors but were detected in five of nine tumors without the RER+ phenotype. These investigations demonstrate the feasibility of CGH for the retrospective assessment of chromosomal changes in endometrial carcinoma specimens. Moreover, these data suggest that the etiologies in tumors with and without the RER+ phenotype may differ. Genes Chromosom. Cancer 18:115–125, 1997. © 1997 Wiley‐Liss, Inc.

[1]  A. Viel,et al.  Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. , 1996, American journal of medical genetics.

[2]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[3]  P. Bray-Ward,et al.  Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones. , 1996, Genomics.

[4]  H. Scherthan,et al.  Advances in Brief Comparative Genomic in Situ Hybridization of Colon Carcinomas with Replication Error ' , 2006 .

[5]  Stefan Joos,et al.  Mapping of chromosomal gains and losses in prostate cancer by comparative genomic hybridization , 1995, Genes, chromosomes & cancer.

[6]  H. Döhner,et al.  Comparative genomic hybridization in chronic B-cell leukemias shows a high incidence of chromosomal gains and losses. , 1995, Blood.

[7]  P. Goodfellow,et al.  Allelic loss of sequences from the long arm of chromosome 10 and replication errors in endometrial cancers. , 1995, Cancer research.

[8]  N. Pandis,et al.  Near-diploid karyotypes with recurrent chromosome abnormalities characterize early-stage endometrial cancer. , 1995, Cancer genetics and cytogenetics.

[9]  S. Knuutila,et al.  Gains and losses of DNA sequences in osteosarcomas by comparative genomic hybridization. , 1995, Cancer research.

[10]  D. Ward,et al.  Comparative genomic hybridization detects novel deletions and amplifications in head and neck squamous cell carcinomas. , 1995, Cancer research.

[11]  P. Meltzer,et al.  Gene amplification elucidated by combined chromosomal microdissection and comparative genomic hybridization. , 1995, Cancer genetics and cytogenetics.

[12]  T. Visakorpi,et al.  Genetic changes in primary and recurrent prostate cancer by comparative genomic hybridization. , 1995, Cancer research.

[13]  R. Bookstein,et al.  Comparative genomic hybridization, allelic imbalance, and fluorescence in situ hybridization on chromosome 8 in prostate cancer , 1994, Genes, chromosomes & cancer.

[14]  J. Gray,et al.  Identification of frequent novel genetic alterations in small cell lung carcinoma. , 1994, Cancer research.

[15]  J. Gray,et al.  Comparative genomic hybridization in the detection of DNA copy number abnormalities in uveal melanoma. , 1994, Cancer research.

[16]  H. Sasaki,et al.  Allelotype of endometrial carcinoma. , 1994, Cancer research.

[17]  J Piper,et al.  Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors , 1994, Genes, chromosomes & cancer.

[18]  M R Speicher,et al.  Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. , 1994, Cancer research.

[19]  P. Kinra,et al.  Microsatellite Instability in Endometrial Carcinoma. , 2020, Annals of Pathology and Laboratory Medicine.

[20]  I. Petersen,et al.  Mapping of multiple DNA gains and losses in primary small cell lung carcinomas by comparative genomic hybridization. , 1994, Cancer research.

[21]  C. Griffin,et al.  Cytogenetic and FISH analysis of endometrial carcinoma. , 1994, Cancer genetics and cytogenetics.

[22]  Kathleen R. Cho,et al.  The DCC gene: structural analysis and mutations in colorectal carcinomas. , 1994, Genomics.

[23]  Yusuke Nakamura,et al.  Allelotype of uterine cancer by analysis of RFLP and microsatellite polymorphisms: Frequent loss of heterozygosity on chromosome arms 3p, 9q, 10q, and 17p , 1994, Genes, chromosomes & cancer.

[24]  L. Aaltonen,et al.  Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. , 1993, Cancer research.

[25]  A. Berchuck,et al.  Genetic instability of microsatellites in endometrial carcinoma. , 1993, Cancer research.

[26]  Darryl Shibata,et al.  Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis , 1993, Nature.

[27]  K. Kinzler,et al.  Clues to the pathogenesis of familial colorectal cancer. , 1993, Science.

[28]  S N Thibodeau,et al.  Microsatellite instability in cancer of the proximal colon. , 1993, Science.

[29]  D. Pinkel,et al.  Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors , 1992 .

[30]  P. Satyaswaroop,et al.  Is chromosome 10 a primary chromosomal abnormality in endometrial adenocarcinoma? , 1990, Cancer genetics and cytogenetics.

[31]  C. Palmer,et al.  Cytogenetic studies of endometrial malignancies. , 1990, Cancer genetics and cytogenetics.

[32]  Š. Spaventi,et al.  Trisomy and tetrasomy of the long arm of chromosome 1 in a direct preparation of human endometrial adenocarcinoma. , 1988, Cancer genetics and cytogenetics.

[33]  B. Dutrillaux,et al.  Chromosome imbalance in endometrial adenocarcinoma. , 1988, Cancer genetics and cytogenetics.

[34]  S. Rubin,et al.  Well-differentiated adenocarcinoma of endometrium with simple karyotypic changes: a case report. , 1987, Cancer genetics and cytogenetics.

[35]  B. Dutrillaux,et al.  Trisomy and tetrasomy for long arm of chromosome 1 in near‐diploid human endometrial adenocarcinomas , 1986, International journal of cancer.

[36]  A. McCartney,et al.  Primary cytogenetic abnormality detected in an endometrial adenocarcinoma. , 1986, Cancer genetics and cytogenetics.

[37]  A. Sandberg,et al.  Recurrent endometrial adenocarcinoma with rearrangement of chromosomes 1 and 11. , 1986, Cancer genetics and cytogenetics.

[38]  N. Wake,et al.  Marker chromosomes of the long arm of chromosome 1 in endometrial carcinoma. , 1985, Cancer genetics and cytogenetics.

[39]  T. P. Dryja,et al.  Expression of recessive alleles by chromosomal mechanisms in retinoblastoma , 1983, Nature.

[40]  L. Zech,et al.  DUPLICATION OF PART OF CHROMOSOME NO. 1 IN MYELOPROLIFERATIVE DISEASES , 1978, The Lancet.

[41]  J. Rowley.  Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[42]  C. Karakousis.  CANCER : FAILURE OF LOCALISATION OF THE IMMUNE SYSTEM? , 1975, The Lancet.

[43]  M R Speicher,et al.  Quantitative analysis of comparative genomic hybridization. , 1995, Cytometry.

[44]  T. Tong,et al.  Cancer statistics, 1994 , 1994, CA: a cancer journal for clinicians.