Demonstration of somatic rearrangements and genomic heterogeneity in human ovarian cancer by DNA fingerprinting

E M Boltz, Boltz EM, P Harnett, Paul R. Harnett, Leary J, J Leary, Houghton R, R Houghton, Kefford RF, R F Kefford, M L Friedlander, Friedlander ML
British journal of cancer · 1990 · vol. 62(1) , pp. 23–7 · doi:10.1038/bjc.1990.222 · PMID:2390478 · PMC1971745
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DNA fingerprinting revealed somatic changes and genomic heterogeneity in 70% of epithelial ovarian tumors, indicating that metastases often share a common stem line with minor variations across different sites.

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This study utilized DNA fingerprinting with satellite probes to analyze somatic changes and genomic heterogeneity in 14 patients with epithelial ovarian tumors. The researchers found that approximately 70% of the tumors exhibited somatic alterations, most commonly deletions or reductions in band intensity indicative of loss of heterozygosity. While primary tumors and their metastases generally shared similar DNA patterns with minor variations, suggesting derivation from a common stem line, the analysis confirmed significant clonal heterogeneity across different sites. This paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

A detailed study was performed in 14 patients with epithelial ovarian tumours using the satellite probes 33.15, 228S and 216S to investigate the nature of somatic changes and frequency with which clonal changes could be demonstrated during metastasis and progression. Somatic changes were evident in approximately 70% of ovarian tumours, the most common being a deletion or reduction in intensity of a band suggesting loss of heterozygosity. Additional changes that were observed included increased intensification of single bands and the appearance of novel DNA fragments. Somatic alterations were seen following digestion of DNA with methylation resistant restriction endonucleases indicating that methylation differences alone could not account for all of the somatic changes. Using DNA fingerprint analysis ovarian tumours were shown to be heterogeneous with different DNA patterns observed in different sites in five of eight patients. Generally, within an individual patient the primary and metastases appeared to share a DNA fingerprint pattern with minor variations occurring in different sites suggesting that different populations have derived from a common stem line. This study clearly demonstrates that DNA fingerprint analysis is a sensitive method to detect somatic changes in tumour DNA and for investigating the development of clonal heterogeneity in ovarian tumours.
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Abstract A detailed study was performed in 14 patients with epithelial ovarian tumours using the satellite probes 33.15, 228S and 216S to investigate the nature of somatic changes and frequency with which clonal changes could be demonstrated during metastasis and progression. Somatic changes were evident in approximately 70% of ovarian tumours, the most common being a deletion or reduction in intensity of a band suggesting loss of heterozygosity. Additional changes that were observed included increased intensification of single bands and the appearance of novel DNA fragments. Somatic alterations were seen following digestion of DNA with methylation resistant restriction endonucleases indicating that methylation differences alone could not account for all of the somatic changes. Using DNA fingerprint analysis ovarian tumours were shown to be heterogeneous with different DNA patterns observed in different sites in five of eight patients. Generally, within an individual patient the primary and metastases appeared to share a DNA fingerprint pattern with minor variations occurring in different sites suggesting that different populations have derived from a common stem line. This study clearly demonstrates that DNA fingerprint analysis is a sensitive method to detect somatic changes in tumour DNA and for investigating the development of clonal heterogeneity in ovarian tumours. This is a preview of subscription content, access via your institution Access options Subscribe to this journal Receive 24 print issues and online access Buy this article - Purchase on SpringerLink - Instant access to the full article PDF. 39,95 € Prices may be subject to local taxes which are calculated during checkout Similar content being viewed by others Author information Authors and Affiliations Rights and permissions About this article Cite this article Boltz, E., Harnett, P., Leary, J. et al. Demonstration of somatic rearrangements and genomic heterogeneity in human ovarian cancer by DNA fingerprinting. Br J Cancer 62, 23–27 (1990). https://doi.org/10.1038/bjc.1990.222 Issue date: DOI: https://doi.org/10.1038/bjc.1990.222

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MeSH descriptors

Chromosome Aberrations Ovarian Neoplasms Adenocarcinoma Adenocarcinoma Cystadenocarcinoma Cystadenocarcinoma DNA Probes DNA, Satellite DNA, Satellite Endometriosis Endometriosis Female Fibroma Fibroma Humans Neoplasm Metastasis Neoplasm Metastasis Nucleotide Mapping Ovarian Neoplasms Rectal Neoplasms

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