A cluster of familial malignant mesothelioma with del(9p) as the sole chromosomal anomaly

Our plain-English summary of A cluster of familial malignant mesothelioma with del(9p) as the sole chromosomal anomaly, by M. Musti, D. Cavone, Y. Aalto, et al (Cancer Genetics and Cytogenetics, 2002).

The study

• Authors: M. Musti, D. Cavone, Y. Aalto, A. Scattone, G. Serio, S. Knuutila
• Journal: Cancer Genetics and Cytogenetics
• Published: 2002;138(1):73-6
• Cited by: 20 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

We describe a family of three sisters affected by malignant mesothelioma (MM) (2 pleural and 1 peritoneal) and one brother affected by pleural plaques. All members of the family had been subjected to previous asbestos exposure of environmental-residential type. For 13 years, from 1951 to 1964, their housing was provided by the father's employer, an asbestos cement factory, and the factory warehouse was on the ground floor of the building they lived in. DNA extracted from paraffin-embedded MM samples was used to search for chromosomal alterations by a comparative genomic hybridization (CGH) method. In two cases, a loss at 9p was found to be the only change. The loss at 9p is a frequent event in malignant mesothelioma and the fact that this anomaly was diagnosed in two sisters as the only alteration suggests that this region may be the site of one or more oncosuppressor genes that could play an important role in the development of MM and in inducing greater genetic susceptibility to the carcinogenic effects of asbestos.

In plain English

This short communication described one Italian family in which three sisters developed malignant mesothelioma (two pleural, one peritoneal) and their brother had pleural plaques. The father worked at an asbestos cement factory from 1951 to 1984 and had asbestosis from 1981. From 1951 to 1964 the family lived in a company flat inside the factory precinct, in a building whose ground floor housed the factory warehouse. Only the father had work exposure. The authors called the family's exposure environmental/residential but 'work-like' in intensity. No fiber type was named. The authors analyzed stored tissue by comparative genomic hybridization (CGH), which detects lost or extra chromosome material. Too little DNA was obtained from one sister and the brother. In the other two sisters (latency 42 and 38 years), the only chromosomal change CGH detected in the tumors was a loss on the short arm of chromosome 9 (9p). CGH on an earlier pleural plaque sample from one of these sisters gave normal results. The authors concluded that this region may hold one or more tumor-suppressor genes involved in mesothelioma and in genetic susceptibility to asbestos.

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 reporting a family cluster (case series of one family), with comparative genomic hybridization (CGH) analysis of tumor tissue
• Who was studied: One family: a father who worked at an asbestos cement factory, a mother, and four siblings born in Bari, Italy (three sisters with malignant mesothelioma and one brother with pleural plaques). Case data came from the Apulia Regional Operative Center of the Italian National Register of Mesotheliomas.
• Exposure: Environmental/residential asbestos exposure. From 1951 to 1964 the family lived in a company flat inside an asbestos cement factory precinct, in a building that housed the factory warehouse on the ground floor. The authors described the intensity as 'work-like'. Only the father had work exposure. Fiber type was not stated. According to the article's Table 1, exposure durations for the four siblings were 11, 10, 7 and 6 years.
• Main results:
  • DNA from the mesothelioma sample of case 1 (a sister with biphasic pleural mesothelioma) and from the pleural sample of case 2 (the brother) was not sufficient to perform CGH.
  • CGH on a pleural plaque sample from case 3, taken 3 years before her mesothelioma, gave normal results.
  • In cases 3 and 4, two sisters, CGH on the mesothelioma samples showed a deletion of the short arm of chromosome 9 (9p) as the only chromosomal anomaly detected. Case 3 had epithelioid peritoneal mesothelioma and case 4 had biphasic pleural mesothelioma.
  • The two sisters with the 9p deletion had latency periods of 38 and 42 years.
  • The father, who worked at the asbestos cement factory, was affected by asbestosis from 1981.
• The authors' conclusion: The authors concluded that finding 9p deletion as the only chromosomal change in two sisters suggests this region may contain one or more tumor-suppressor genes with a role in mesothelioma and in increased genetic susceptibility to asbestos. They called for international registers of familial mesothelioma cases to assess diet, domestic exposure, residential exposure and genetic susceptibility.

Topics

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

Medical terms in this study, explained in our Lexicon: Mesothelioma, Pleural Plaques, Asbestos Exposure, Asbestos-Cement, Carcinogenic.

Related studies

• Chromosomal deletion in patients with malignant pleural mesothelioma — S. Neragi-Miandoab, D.J. Sugarbaker (2009)
• Translocation (2;3)(p21;p26) as the sole anomaly in a benign localized fibrous mesothelioma — F. Mertens, R. Willén, et al. (1996)
• Induction of micronuclei, hyperdiploidy and chromosomal breakage affecting the centric/pericentric regions of chromosomes 1 and 9 in human amniotic fluid cells after treatment with asbestos and ceramic fibers — E. Dopp, M. Schuler, et al. (1997)
• Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster — G. Brandi, A. Rizzo, et al. (2020)
• Familial mesothelioma: a report of two families — S.P. Hammar, D. Bockus, et al. (1989)
• 9p21 deletion in the diagnosis of malignant mesothelioma, using fluorescence in situ hybridization analysis — M. Takeda, T. Kasai, et al. (2010)

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