DNA copy number changes in familial malignant mesothelioma

Our plain-English summary of DNA copy number changes in familial malignant mesothelioma, by V. Ascoli, Y. Aalto, C. Carnovale-Scalzo, et al (Cancer Genetics and Cytogenetics, 2001).

The study

• Authors: V. Ascoli, Y. Aalto, C. Carnovale-Scalzo, F. Nardi, D. Falzetti, C. Mecucci, S. Knuutila
• Journal: Cancer Genetics and Cytogenetics
• Published: 2001;127(1):80-2
• Cited by: 26 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Malignant mesothelioma (MM) is predominantly a sporadic malignancy linked to exposure to asbestos. Clustering of MM in families suggests genetic susceptibility as a contributing factor. We performed comparative genomic hybridization (CGH) analysis on tumor samples from members of a family with MM of the pleura and a history of parental cancer. Our specific aim was to find a recurrent copy number loss indicating the chromosomal area to which a gene underlying the development of MM could be assigned according to the Knudson two-hit hypothesis. We found losses at 1p, 6q, 9p, 13q, and 14q. The copy number changes were very similar to those reported in sporadic cases. Our findings and results from sporadic cases highlight the importance of cloning the genes in the loss sites at 1p, 6q, 14q, and 22q.

In plain English

This short communication reported a genetic analysis of tumors from one family with malignant mesothelioma of the pleura. The family had five cases of pleural mesothelioma, in four sisters and one paternal cousin, identified between 1980 and 1999 through a hospital-based mesothelioma registry. The cousin, a man, had occupational asbestos exposure as an installation worker. The sisters had worked in the same confectionery shop, where an asbestos-insulated oven was the presumed source of possible exposure. The authors used comparative genomic hybridization, a method that detects lost or gained stretches of chromosomes. They tested eleven tissue or cell samples from four of the mesothelioma patients and from a brother with cancer of the larynx. They were looking for a shared chromosome loss that might point to a gene underlying mesothelioma. The tumors showed losses at chromosome regions 1p, 6q, 9p, 13q and 14q. The authors described these changes as very similar to those reported in sporadic (non-familial) cases, and none of the losses suggested a new gene. The authors concluded that their findings and those from sporadic cases highlight the importance of identifying the genes at 1p, 6q, 14q and 22q.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Short communication: genetic (comparative genomic hybridization) analysis of tumor samples from members of one family
• Who was studied: One family with five cases of pleural mesothelioma (four sisters and one paternal cousin), identified 1980 to 1999 through a hospital-based mesothelioma registry of 150 cases. Eleven tissue or cell samples came from four mesothelioma patients (three sisters, one cousin) and from one brother with squamous cell carcinoma of the larynx.
• Exposure: The man (the cousin) had certain occupational asbestos exposure as an installation worker. The women had worked as pastry-cooks and/or pastry-shop girls in the same confectionery shop, where an asbestos-insulated oven was the presumed source of possible exposure. No fiber type was given.
• Main results:
  • Losses at chromosome regions 1p, 6q, 9p, 13q and 14q were found in the family's tumors.
  • The copy number changes in the familial cases were very similar to those reported in sporadic cases.
  • None of the losses found offered clues to a novel gene.
  • Constitutional karyotypes (standard chromosome banding) of one mesothelioma patient (case 3) and three unaffected relatives with no history of cancer were normal. Case 3 also showed three aberrant karyotypes in addition to three normal cells.
• The authors' conclusion: The authors concluded that their findings, together with results from sporadic cases, highlight the importance of cloning the genes in the loss sites at 1p, 6q, 14q and 22q.

Topics

The National Library of Medicine indexes this study under subjects our site covers: Mesothelioma.

Medical terms in this study, explained in our Lexicon: Malignant Mesothelioma, Pleura.

Related studies

• Gene expression profiling and gene copy-number changes in malignant mesothelioma cell lines — C. Zanazzi, R. Hersmus, et al. (2007)
• Identification of specific gene copy number changes in asbestos-related lung cancer — P. Nymark, H. Wikman, et al. (2006)
• Comparison of DNA copy number changes in malignant mesothelioma, adenocarcinoma and large-cell anaplastic carcinoma of the lung — A.M. Björkqvist, L. Tammilehto, et al. (1998)
• Copy number gains on 5p15, 6p11-q11, 7p12, and 8q24 are rare in sputum cells of individuals at high risk of lung cancer — E. Kettunen, K. Salmenkivi, et al. (2006)
• DNA copy number loss and allelic imbalance at 2p16 in lung cancer associated with asbestos exposure — E. Kettunen, M. Aavikko, et al. (2009)
• Genomic copy number alterations in 33 malignant peritoneal mesothelioma analyzed by comparative genomic hybridization array — P. Chirac, D. Maillet, et al. (2016)

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