Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy

Proc Natl Acad Sci U S A. 2019 Apr 30;116(18):9008-9013. doi: 10.1073/pnas.1821510116. Epub 2019 Apr 11.

Abstract

Survival from malignant mesothelioma, particularly pleural mesothelioma, is very poor. For patients with breast, ovarian, or prostate cancers, overall survival is associated with increased sensitivity to platinum chemotherapy due to loss-of-function mutations in DNA repair genes. The goal of this project was to evaluate, in patients with malignant mesothelioma, the relationship between inherited loss-of-function mutations in DNA repair and other tumor suppressor genes and overall survival following platinum chemotherapy. Patients with histologically confirmed malignant mesothelioma were evaluated for inherited mutations in tumor suppressor genes. Survival was evaluated with respect to genotype and site of mesothelioma. Among 385 patients treated with platinum chemotherapy, median overall survival was significantly longer for patients with loss-of-function mutations in any of the targeted genes compared with patients with no such mutation (P = 0.0006). The effect of genotype was highly significant for patients with pleural mesothelioma (median survival 7.9 y versus 2.4 y, P = 0.0012), but not for patients with peritoneal mesothelioma (median survival 8.2 y versus 5.4 y, P = 0.47). Effect of patient genotype on overall survival, measured at 3 y, remained independently significant after adjusting for gender and age at diagnosis, two other known prognostic factors. Patients with pleural mesothelioma with inherited mutations in DNA repair and other tumor suppressor genes appear to particularly benefit from platinum chemotherapy compared with patients without inherited mutations. These patients may also benefit from other DNA repair targeted therapies such as poly-ADP ribose polymerase (PARP) inhibitors.

Keywords: BAP1; DNA repair genes; inherited genetics; mesothelioma; survival.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • DNA Repair / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Germ-Line Mutation
  • Humans
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / genetics
  • Lung Neoplasms / mortality
  • Male
  • Mesothelioma / drug therapy
  • Mesothelioma / genetics*
  • Mesothelioma / mortality*
  • Mesothelioma, Malignant
  • Middle Aged
  • Platinum / therapeutic use
  • Pleural Neoplasms / genetics
  • Pleural Neoplasms / mortality
  • Survival Analysis
  • Tumor Suppressor Proteins / genetics
  • Ubiquitin Thiolesterase / genetics
  • Young Adult

Substances

  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Platinum
  • Ubiquitin Thiolesterase