Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Asbestos
BAP1
Cancer genetics
Germline mutations
Mesothelioma
Tumor predisposition syndromes
Journal
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
ISSN: 1556-1380
Titre abrégé: J Thorac Oncol
Pays: United States
ID NLM: 101274235
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
15
12
2021
revised:
23
03
2022
accepted:
31
03
2022
pubmed:
25
4
2022
medline:
29
6
2022
entrez:
24
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35462085
pii: S1556-0864(22)00192-7
doi: 10.1016/j.jtho.2022.03.014
pmc: PMC9233126
mid: NIHMS1809061
pii:
doi:
Substances chimiques
BAP1 protein, human
0
Tumor Suppressor Proteins
0
Ubiquitin Thiolesterase
EC 3.4.19.12
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
873-889Subventions
Organisme : NCI NIH HHS
ID : R01 CA198138
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA237235
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA214195
Pays : United States
Organisme : NIEHS NIH HHS
ID : R01 ES030948
Pays : United States
Informations de copyright
Copyright © 2022 International Association for the Study of Lung Cancer. All rights reserved.
Références
Int J Environ Res Public Health. 2020 Feb 10;17(3):
pubmed: 32050546
Oncogene. 2011 Jun 16;30(24):2767-77
pubmed: 21317924
J Thorac Oncol. 2015 Nov;10(11):1634-41
pubmed: 26317916
BMJ Open. 2012 Mar 01;2(2):e000663
pubmed: 22382119
J Transl Med. 2012 Aug 30;10:179
pubmed: 22935333
Eur Respir Rev. 2015 Mar;24(135):115-31
pubmed: 25726562
Sci Rep. 2018 Sep 25;8(1):14321
pubmed: 30254313
Genes Chromosomes Cancer. 2018 Nov;57(11):573-583
pubmed: 30338612
Mol Cancer Ther. 2020 Feb;19(2):552-563
pubmed: 31619462
Int J Cancer. 2009 Feb 1;124(3):589-99
pubmed: 18973227
PLoS One. 2011 Apr 19;6(4):e18828
pubmed: 21526190
Mol Cell. 2014 May 8;54(3):392-406
pubmed: 24703950
Clin Genet. 2015 Sep;88(3):273-7
pubmed: 25080371
J Clin Oncol. 2018 Oct 30;:JCO2018790352
pubmed: 30376426
J Thorac Oncol. 2015 Apr;10(4):565-76
pubmed: 25658628
Anticancer Res. 2004 Nov-Dec;24(6):4003-9
pubmed: 15736446
N Engl J Med. 2005 Oct 13;353(15):1591-603
pubmed: 16221782
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S3-S27
pubmed: 32206567
Eur J Hum Genet. 2020 Oct;28(10):1379-1386
pubmed: 32457520
N Engl J Med. 2005 Oct 13;353(15):1564-73
pubmed: 16221779
J Thorac Oncol. 2018 Sep;13(9):1269-1283
pubmed: 29966799
Med Oncol. 2013 Mar;30(1):422
pubmed: 23277285
Clin Cancer Res. 2021 Apr 15;27(8):2277-2291
pubmed: 33547197
J Clin Oncol. 2005 Jan 1;23(1):184-9
pubmed: 15625372
Cancer Res. 2014 Aug 15;74(16):4282-94
pubmed: 24894717
Genes Cancer. 2011 May;2(5):576-84
pubmed: 21901170
Chest. 1998 Mar;113(3):723-31
pubmed: 9515850
JTO Clin Res Rep. 2021 Sep 17;2(10):100231
pubmed: 34661178
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S120-S132
pubmed: 32206577
Sci Rep. 2015 Dec 18;5:18462
pubmed: 26680512
J Thorac Oncol. 2020 Apr;15(4):655-660
pubmed: 31887429
Clin Cancer Res. 2010 Apr 15;16(8):2409-17
pubmed: 20371686
Carcinogenesis. 2015 Jan;36(1):76-81
pubmed: 25380601
Monaldi Arch Chest Dis. 1998 Apr;53(2):228-35
pubmed: 9689813
Adv Clin Chem. 2012;57:163-85
pubmed: 22870590
J Thorac Oncol. 2016 Aug;11(8):1246-1262
pubmed: 27453164
J Thorac Oncol. 2020 May;15(5):843-859
pubmed: 32004714
Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):285-90
pubmed: 24347639
Cancer Discov. 2020 Aug;10(8):1103-1120
pubmed: 32690542
JAMA Dermatol. 2017 Oct 1;153(10):999-1006
pubmed: 28793149
Ann Thorac Surg. 2008 Aug;86(2):383-9; discussion 390
pubmed: 18640301
Mod Pathol. 2020 Feb;33(2):297-302
pubmed: 31375770
Oncogene. 2016 Apr 14;35(15):1996-2002
pubmed: 26119930
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S60-S66
pubmed: 32206571
J Thorac Oncol. 2019 Feb;14(2):276-287
pubmed: 30316012
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S67-S76
pubmed: 32206572
J Cell Mol Med. 2013 Feb;17(2):233-41
pubmed: 23301673
J Transl Med. 2018 Jul 13;16(1):194
pubmed: 30001711
Semin Thorac Cardiovasc Surg. 2009 Summer;21(2):97-104
pubmed: 19822280
Nat Genet. 2011 Aug 28;43(10):1022-5
pubmed: 21874000
Lung Cancer. 2017 Sep;111:139-142
pubmed: 28838385
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Proc Natl Acad Sci U S A. 2020 Dec 29;117(52):33466-33473
pubmed: 33318203
Eur J Radiol. 2018 Apr;101:124-128
pubmed: 29571785
Proc Natl Acad Sci U S A. 2019 Apr 30;116(18):9008-9013
pubmed: 30975761
Cancer Lett. 2017 Oct 1;405:38-45
pubmed: 28687356
Arch Bronconeumol. 2017 Aug;53(8):437-442
pubmed: 28279517
Eur J Cancer. 2018 Mar;92:48-53
pubmed: 29413689
J Thorac Oncol. 2018 May;13(5):606-623
pubmed: 29524617
Int J Mol Sci. 2019 Jan 19;20(2):
pubmed: 30669483
N Engl J Med. 2021 Feb 4;384(5):440-451
pubmed: 33471974
Nat Med. 2021 Nov;27(11):1910-1920
pubmed: 34750557
Cancers (Basel). 2019 Aug 04;11(8):
pubmed: 31382694
Nat Rev Cancer. 2020 Sep;20(9):533-549
pubmed: 32472073
J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341
pubmed: 30517737
JAMA. 2018 Jun 19;319(23):2401-2409
pubmed: 29922827
Arch Pathol Lab Med. 2020 Apr;144(4):500-522
pubmed: 32057276
Nat Genet. 2011 Aug 28;43(10):1018-21
pubmed: 21874003
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S86-S91
pubmed: 32206574
Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):13432-13437
pubmed: 27834213
Pathol Int. 2020 Dec;70(12):1009-1014
pubmed: 32956524
J Natl Compr Canc Netw. 2021 Jan 06;19(1):77-102
pubmed: 33406487
J Thorac Oncol. 2018 Nov;13(11):1655-1667
pubmed: 30266660
Nature. 2017 Jun 22;546(7659):549-553
pubmed: 28614305
Lancet Respir Med. 2021 Jun;9(6):593-600
pubmed: 33515503
J Pathol. 2021 Jan;253(1):68-79
pubmed: 32944962
J Thorac Oncol. 2019 Nov;14(11):1989-1994
pubmed: 31323388
Clin Genet. 2016 Mar;89(3):285-94
pubmed: 26096145
PLoS Genet. 2015 Dec 18;11(12):e1005633
pubmed: 26683624
JAMA Oncol. 2016 Apr;2(4):482-90
pubmed: 26720728
JCO Clin Cancer Inform. 2021 Jan;5:143-154
pubmed: 33513031
Cell Death Differ. 2021 Feb;28(2):606-625
pubmed: 33462414
World Neurosurg. 2018 Nov;119:402-415
pubmed: 29981911
J Am Acad Dermatol. 2016 Mar;74(3):423-34; quiz 435-6
pubmed: 26892652
CA Cancer J Clin. 2019 Sep;69(5):402-429
pubmed: 31283845
Lung Cancer. 2016 Oct;100:110-113
pubmed: 27597289
Cancer Epidemiol Biomarkers Prev. 2020 Dec;29(12):2524-2540
pubmed: 32699075
Oncotarget. 2016 Sep 13;7(37):59314-59321
pubmed: 27447750
NPJ Genom Med. 2019 Jun 21;4:13
pubmed: 31263571
Science. 2010 Dec 3;330(6009):1410-3
pubmed: 21051595
J Thorac Oncol. 2016 Apr;11(4):573-82
pubmed: 26776867
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S92-S99
pubmed: 32206575
NPJ Genom Med. 2020 Mar 23;5:12
pubmed: 32218990
Proc Natl Acad Sci U S A. 2021 Nov 30;118(48):
pubmed: 34815344
Am J Respir Cell Mol Biol. 2008 Feb;38(2):209-17
pubmed: 17872495
J Transl Med. 2014 Dec 04;12:301
pubmed: 25471750
Cancer Res. 1996 Sep 1;56(17):4044-8
pubmed: 8752177
Eur Respir J. 2017 Dec 21;50(6):
pubmed: 29269578
Front Oncol. 2021 Aug 24;11:721712
pubmed: 34504799
N Engl J Med. 2016 Aug 4;375(5):443-53
pubmed: 27433846
Cell Death Differ. 2017 Oct;24(10):1694-1704
pubmed: 28665402
Transl Lung Cancer Res. 2020 Feb;9(Suppl 1):S39-S46
pubmed: 32206569
Am J Respir Crit Care Med. 2008 Oct 15;178(8):832-7
pubmed: 18583574
J Clin Oncol. 2018 Oct 1;36(28):2863-2871
pubmed: 30113886