Familial pleural mesothelioma with environmental asbestos exposure: losses of DNA sequences by comparative genomic hybridization (CGH)

Our plain-English summary of Familial pleural mesothelioma with environmental asbestos exposure: losses of DNA sequences by comparative genomic hybridization (CGH), by G. Serio, A. Scattone, M. Gentile, et al (Histopathology, 2004).

The study

• Authors: G. Serio, A. Scattone, M. Gentile, P. Nazzaro, A. Pennella, A.L. Buonadonna, L. Pollice, M. Musti
• Journal: Histopathology
• Published: 2004;45(6):643-5
• Type of article: Case report, Letter
• Cited by: 5 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Summary of the article

This letter reported a genetic analysis of malignant pleural mesothelioma in two sisters, aged 23 and 32 years, from a nine-member family who had been environmentally exposed to asbestos. Both sisters also had Marfan's syndrome. They died 39 and 24 months, respectively, after histological diagnosis. In both cases the tumour was the deciduoid subtype, a rare variant of epithelioid mesothelioma. The authors performed comparative genomic hybridization (CGH) on paraffin-embedded tumour samples. The two cases showed largely concordant chromosomal changes, and gains were more frequent than losses. Both tumours had gains on 1p31.3-pter, 4p15.3-pter, 8q24.1-qter, 10q25.1-qter, 11q12-q13, 11q22-qter and 12q24.1-qter, and trisomy of chromosome 19 and 22q. Both tumours had losses at 13q21.1-q22 and on 6q (6q12-q21 in case 1, 6q12-q14 in case 2). Case 2 also had losses at 2q32.1-q33, 4p13-q21.1 and 9p22-pter. The authors noted that losses at 6q12-q21 and 13q21.1-q22 had previously been found in another familial case and in some sporadic mesotheliomas. They concluded that these regions might contain tumour suppressor genes. They said their results supported a possible genetic component in mesothelioma and provided evidence for a recessive mechanism. They suggested that familial mesotheliomas might be a useful model for studying the relationship between genetic risk and environmental asbestos exposure.

PubMed has no abstract for this study, and the article doesn't print one. We wrote this summary from the full article with the help of AI. It is not the authors' wording.

In plain English

This was a short published letter (correspondence) describing two cases of pleural malignant mesothelioma in two young sisters, aged 23 and 32, from a nine-member family. The authors described the sisters as environmentally exposed to asbestos; the letter does not name a fiber type or source. Both sisters also had Marfan's syndrome, and they died 39 and 24 months after diagnosis. In both, the tumour was the deciduoid subtype, which the authors called a rare variant of epithelioid mesothelioma. The authors used comparative genomic hybridization, a laboratory method that detects extra or missing pieces of chromosomes, on stored tumour samples. The two tumours showed largely similar changes, with gains more frequent than losses. Both tumours had losses at 13q21.1-q22 and in region 6q. The second sister's tumour had additional losses, including at 9p22-pter. The authors concluded that their results support the hypothesis of a possible genetic component in mesothelioma and provide evidence for a recessive mechanism. The letter does not state any limitations of its own two-case analysis.

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: case report of two related patients, published as a letter (correspondence), with chromosome analysis of tumour tissue by comparative genomic hybridization
• Who was studied: two sisters, aged 23 and 32, from a nine-member family, both with pleural malignant mesothelioma; authors are from Bari and Foggia, Italy; dates not given
• Exposure: environmental asbestos exposure; no fiber type, source or dose is given in this letter
• Main results:
  • Both sisters were also affected with Marfan's syndrome
  • The sisters died 39 and 24 months, respectively, after the histological diagnosis
  • In both cases the tumour was the deciduoid subtype, described as a rare morphological variant of epithelioid malignant mesothelioma
  • Chromosome changes were largely concordant between the two cases, and gains (including amplifications) were more frequent than losses in both
  • The authors listed amplified regions shared by both tumours as 1p31.3-pter, 4p15.3-pter, 8q24.1-qter, 10q25.1-qter, 11q12-q13.3-5 (as printed), 11q22.1-2-qter, 12q24.1-qter, trisomy 19 and trisomy 22q
  • In case 1, DNA losses were on chromosomes 6q12-q21 and 13q21.1-q22
  • In case 2, DNA losses were on 2q32.1-q33, 4p13-q21.1, 6q12-q14, 9p22-pter and 13q21.1-q22
• The authors' conclusion: The authors concluded that their results support the hypothesis of a possible genetic component in the development of malignant mesothelioma and provide evidence for a recessive mechanism in how this tumour develops

Topics

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

Medical terms in this study, explained in our Lexicon: Pleural Mesothelioma, Asbestos Exposure, Epithelioid, Mesothelioma.

Related studies

• Comparative genomic hybridisation in malignant deciduoid mesothelioma — A. Scattone, A. Pennella, et al. (2006)
• The potential value of comparative genomic hybridization analysis in effusion-and fine needle aspiration cytology — H. Nagel, H.J. Schulten, et al. (2002)
• Severe chromosomal aberrations in pleural mesotheliomas with unusual mesodermal features. Comparative genomic hybridization evidence for a mesothelioma subgroup — M. Krismann, K.M. Müller, et al. (2000)
• Genomic copy number alterations in 33 malignant peritoneal mesothelioma analyzed by comparative genomic hybridization array — P. Chirac, D. Maillet, et al. (2016)
• Impact of an asbestos cement factory on mesothelioma incidence: global assessment of effects of occupational, familial, and environmental exposure — C. Mensi, L. Riboldi, et al. (2015)
• Genomic changes of chromosomes 8p23.1 and 1q21: Novel mutations in malignant mesothelioma — G. Serio, L. Vimercati, et al. (2018)

Browse more research in Histopathology, or return to medical research.