Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations
Year: 2022
Type: review
Abstract: The 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.
Source: Journal of Thoracic Oncology
Authors: Michele Carbone, Harvey I. Pass, Guntulu Ak, H. Richard Alexander, Paul Baas, Francine Baumann, Andrew M. Blakely, Raphael Bueno, Aleksandra Bzura, Giuseppe Cardillo, Jane E. Churpek, Irma Dianzani, Assunta De Rienzo, Mitsuru Emi, Salih Emri, Emanuela Felley-Bosco, Dean A. Fennell, Raja M. Flores, Federica Grosso, Nicholas K. Hayward, Mary Hesdorffer, Chuong D. Hoang, Peter A. Johansson, Hedy L. Kindler, Muaiad Kittaneh, Thomas Krausz, Aaron Mansfield, Muzaffer Metintas, Michael Minaai, Luciano Mutti, Maartje Nielsen, Kenneth O’Byrne, Isabelle Opitz, Sandra Pastorino, Francesca Pentimalli, Marc de Perrot, Antonia Pritchard, Robert Taylor Ripley, Bruce Robinson, Valerie Rusch, Emanuela Taioli, Yasutaka Takinishi, Mika Tanji, Anne S. Tsao, A. Murat Tuncer, Sebastian Walpole, Andrea Wolf, Haining Yang, Yoshie Yoshikawa, Alicia Zolondick, David S. Schrump, Raffit Hassan
Institutions: University of Hawaii Cancer Center, NYU Langone Health, Eskişehir Osmangazi University, Rutgers Cancer Institute, Leiden University Medical Center, The Netherlands Cancer Institute, National Cancer Institute, Brigham and Women's Hospital, Harvard University, University of Leicester, Azienda Ospedaliera San Camillo-Forlanini, University of Wisconsin–Madison, University of Wisconsin Carbone Cancer Center, Università degli Studi del Piemonte Orientale “Amedeo Avogadro”, Hyogo Medical University, University Hospital Zurich, Mount Sinai Health System, Icahn School of Medicine at Mount Sinai, Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo, QIMR Berghofer Medical Research Institute, Mesothelioma Applied Research Foundation, National Institutes of Health, University of Chicago, Loyola University Chicago, Mayo Clinic, Temple University, Translational Research Institute, Queensland University of Technology, Toronto General Hospital, University of the Highlands and Islands, Baylor College of Medicine, The University of Western Australia, Memorial Sloan Kettering Cancer Center, The University of Texas MD Anderson Cancer Center, International Prevention Research Institute, Center for Cancer Research
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,220
Funders: U.S. Department of Defense, Boehringer Ingelheim, Mesothelioma Applied Research Foundation, Bristol-Myers Squibb, Eli Lilly and Company, Pfizer, AstraZeneca, Bayer, GlaxoSmithKline, Merck, Novartis, Roche, Medtronic, Ariad Pharmaceuticals, AbbVie, Takeda Pharmaceuticals U.S.A., Novocure, Astex Pharmaceuticals, Clovis Oncology, Bayer Fund, Inventiva Pharma, BeiGene, University of Hawaiʻi Foundation, Maurice and Joanna Sullivan Family Foundation, Aldeyra Therapeutics, Honeywell, Andrew and Jaime Sullivan Family Foundation, National Institutes of Health, Genentech, EMD Serono, Merck Sharp and Dohme, Medical Research Council, National Health and Medical Research Council, Japan Society for the Promotion of Science, National Cancer Institute, National Institute of Environmental Health Sciences, Janssen Pharmaceuticals, ARC Training Centre in Lightweight Automotive Structures
Awards: G161792179, G1659823682, The EDRN Mesothelioma Biomarker Discovery Laboratory, G2690451666, G3002580113, Mechanisms of BAP1 activity in human cancer development, Germline BAP1 Mutations and Malignant Mesothelioma: Mechanisms and Early Detection, G4119534169, HMGB1 AND ITS ISOFORMS AS BIOMARKERS FOR MINERAL FIBER EXPOSURE AND MM DETECTION, Influence of germline mutations on susceptibility to environmental carcinogens, G5850682332, G596833477, Establishment of a minimally invasive, high-throughput method for early diagnosis of malignant mesothelioma, G7216376094, G7596496179, Cancer Center Support Grant
OpenAlex ID: W4224251450