Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations

Carbone M., Pass H. I., AK G., Alexander H. R., Baas P., Baumann F., ...Daha Fazla

Journal of Thoracic Oncology, cilt.17, sa.7, ss.873-889, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 17 Sayı: 7
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.jtho.2022.03.014
  • Dergi Adı: Journal of Thoracic Oncology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.873-889
  • Anahtar Kelimeler: Mesothelioma, BAP1, Cancer genetics, Germline mutations, Tumor predisposition syndromes, Asbestos, PLEURAL MESOTHELIOMA, MALIGNANT MESOTHELIOMA, ASBESTOS EXPOSURE, PROGNOSTIC MODEL, TUMOR-SUPPRESSOR, CANCER, SURVEILLANCE, PREDISPOSE, INHIBITION, ASSOCIATION
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

© 2022 International Association for the Study of Lung CancerThe most common malignancies that develop in carriers of BAP1 germline mutations include diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and less frequently, breast cancer, several types of skin carcinomas, and other tumor types. Mesotheliomas in these patients are significantly less aggressive, and patients require a multidisciplinary approach that involves genetic counseling, medical genetics, pathology, surgical, medical, and radiation oncology expertise. Some BAP1 carriers have asymptomatic mesothelioma that can be followed by close clinical observation without apparent adverse outcomes: they may survive many years without therapy. Others may grow aggressively but very often respond to therapy. Detecting BAP1 germline mutations has, therefore, substantial medical, social, and economic impact. Close monitoring of these patients and their relatives is expected to result in prolonged life expectancy, improved quality of life, and being cost-effective. The co-authors of this paper are those who have published the vast majority of cases of mesothelioma occurring in patients carrying inactivating germline BAP1 mutations and who have studied the families affected by the BAP1 cancer syndrome for many years. This paper reports our experience. It is intended to be a source of information for all physicians who care for patients carrying germline BAP1 mutations. We discuss the clinical presentation, diagnostic and treatment challenges, and our recommendations of how to best care for these patients and their family members, including the potential economic and psychosocial impact.