Neurofibromatosis 2 and malignant mesothelioma

Our plain-English summary of Neurofibromatosis 2 and malignant mesothelioma, by M.E. Baser, A. De Rienzo, D. Altomare, et al (Neurology, 2002).

The study

• Authors: M.E. Baser, A. De Rienzo, D. Altomare, B.R. Balsara, N.M. Hedrick, D.H. Gutmann, L.H. Pitts, R.K. Jackler, J.R. Testa
• Journal: Neurology
• Published: 2002;59(2):290-1
• Type of article: Case report
• Cited by: 30 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2. The authors report an asbestos-exposed person with NF2 and malignant mesothelioma. Immunohistochemical analysis of the mesothelioma confirmed loss of expression of the NF2 protein, and comparative genomic hybridization revealed losses of chromosomes 14, 15, and 22, and gain of 7. The authors propose that a person with a constitutional mutation of an NF2 allele is more susceptible to mesothelioma.

In plain English

This article was a case report of one person who had neurofibromatosis 2 (NF2), an inherited disorder caused by changes in the NF2 gene, and who later developed malignant mesothelioma. There was no family history of NF2. The patient began working as an automobile and bus mechanic at age 15 and worked as a jet mechanic for commercial airlines from ages 18 to 37. The authors attributed the asbestos exposure to working on brake linings or reworking mechanical components containing asbestos. No fiber type was named. The patient had vestibular schwannomas (nerve tumors) on both sides, diagnosed at ages 22 and 28, early lens opacities, and numerous small spinal tumors. At age 40, a second exploratory surgery found an extensive malignant mesothelioma inside the abdomen (intraperitoneal), and the patient died shortly afterwards. One genetic test of the tumor did not find an NF2 mutation. Staining showed the tumor had lost the NF2 protein, called merlin. The tumor had also lost chromosomes 14, 15 and 22 and gained chromosome 7. The authors proposed that a person born with a mutation in one copy of the NF2 gene is more susceptible to mesothelioma.

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
• Who was studied: One asbestos-exposed person with neurofibromatosis 2 (NF2) and no family history of NF2, who worked as an automobile and bus mechanic from age 15 and as a commercial airline jet mechanic from ages 18 to 37; place and dates of care not stated
• Exposure: Occupational asbestos exposure as a mechanic, which the authors attributed to working on brake linings or reworking mechanical components containing asbestos; fiber type and dose not given
• Main results:
  • The patient's NF2 features: bilateral vestibular schwannomas (right diagnosed at age 22, left at age 28), presenile lens opacities and numerous small spinal tumors
  • At age 40, a second exploratory surgery found an extensive intraperitoneal malignant mesothelioma, and the patient died shortly thereafter
  • Single-strand conformational polymorphism analysis of the mesothelioma did not identify an NF2 mutation
  • Immunohistochemistry showed no expression of the NF2 protein (merlin) in the mesothelioma
  • Comparative genomic hybridization of the mesothelioma showed losses of chromosomes 14, 15 and 22 and a gain of chromosome 7
• The authors' conclusion: The authors proposed that a person with a constitutional (inborn) mutation of one NF2 gene copy is more susceptible to mesothelioma, because only a single further hit would be needed to inactivate the NF2 gene

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: Malignant Mesothelioma, Tumor Suppressor Gene, Mesothelioma.

Related studies

• Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma — C. Glass, L.M. Sholl, et al. (2020)
• Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis — J.O. Blakeley, S.R. Plotkin (2016)
• The prognostic significance of BAP1, NF2, and CDKN2A in malignant peritoneal mesothelioma — A.D. Singhi, A.M. Krasinskas, et al. (2016)
• Loss of NF2 Induces TGFβ Receptor 1-mediated Noncanonical and Oncogenic TGFβ Signaling: Implication of the Therapeutic Effect of TGFβ Receptor 1 Inhibitor on NF2 Syndrome — J.H. Cho, A.Y. Oh, et al. (2018)
• High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas — A.B. Bianchi, S.I. Mitsunaga, et al. (1995)
• Fluorescence in situ hybridization (FISH) provides estimates of minute and interstitial BAP1, CDKN2A, and NF2 gene deletions in peritoneal mesothelioma — S. Brich, F. Bozzi, et al. (2020)

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