Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.
复制标题
DOI：
10.1016/j.jtho.2022.03.014
复制
发表时间：
2022-07
影响因子：
20.4
通讯作者：
Hassan, Raffit
中科院分区：
文献类型：
--
作者：
Carbone, Michele;Pass, Harvey, I;Ak, Guntulu;Alexander, H. Richard;Baas, Paul;Baumann, Francine;Blakely, Andrew M.;Bueno, Raphael;Bzura, Aleksandra;Cardillo, Giuseppe;Churpek, Jane E.;Dianzani, Irma;De Rienzo, Assunta;Emi, Mitsuru;Emri, Salih;Felley-Bosco, Emanuela;Fennell, Dean A.;Flores, Raja M.;Grosso, Federica;Hayward, Nicholas K.;Hesdorffer, Mary;Hoang, Chuong D.;Johansson, Peter A.;Kindler, Hedy L.;Kittaneh, Muaiad;Krausz, Thomas;Mansfield, Aaron;Metintas, Muzaffer;Minaai, Michael;Mutti, Luciano;Nielsen, Maartje;O'Byrne, Kenneth;Opitz, Isabelle;Pastorino, Sandra;Pentimalli, Francesca;de Perrot, Marc;Pritchard, Antonia;Ripley, Robert Taylor;Robinson, Bruce;Rusch, Valerie;Taioli, Emanuela;Takinishi, Yasutaka;Tanji, Mika;Tsao, Anne S.;Tuncer, A. Murat;Walpole, Sebastian;Wolf, Andrea;Yang, Haining;Yoshikawa, Yoshie;Zolondick, Alicia;Schrump, David S.;Hassan, Raffit
BAP1种系突变携带者最常见的恶性肿瘤包括弥漫性恶性间皮瘤、葡萄膜和皮肤黑色素瘤、肾细胞癌；不太常见的是乳腺癌、几种皮肤癌和其他类型的肿瘤。这些间皮瘤患者的侵袭性明显较弱，患者需要多学科治疗，包括遗传咨询、医学遗传学、病理学、外科、医学和放射肿瘤学专业知识。一些BAP1携带者患有无症状间皮瘤，可以密切临床观察，没有明显的不良后果：他们可以在不治疗的情况下存活多年。其他人可能会攻击性地生长，但通常对治疗有反应。因此，检测BAP1种系突变具有重大的医学、社会和经济影响。对这些患者及其亲属进行密切监测有望延长预期寿命，改善生活质量，而且具有成本效益。这篇论文的共同作者发表了绝大多数间皮瘤发生在携带失活种系BAP1突变的患者身上的病例，他们多年来一直在研究BAP1癌症综合征的家庭。本文报告了我们的经验。它的目的是为所有照顾携带种系BAP1突变患者的医生提供信息来源。我们讨论了临床表现，诊断和治疗挑战，以及我们对如何最好地照顾这些患者及其家庭成员的建议，以及潜在的经济和社会心理影响。
The most common malignancies that develop in carriers of BAP1 germline mutations include diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma; 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, significant 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 is also 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, as well as the potential economic and psychosocial impact.
登录
查看更多内容
影响因子：
4.5
作者：
Carbone M;Flores EG;Emi M;Johnson TA;Tsunoda T;Behner D;Hoffman H;Hesdorffer M;Nasu M;Napolitano A;Powers A;Minaai M;Baumann F;Bryant-Greenwood P;Lauk O;Kirschner MB;Weder W;Opitz I;Pass HI;Gaudino G;Pastorino S;Yang H
通讯作者：
Yang H
影响因子：
28.2
作者：
Carbone M;Harbour JW;Brugarolas J;Bononi A;Pagano I;Dey A;Krausz T;Pass HI;Yang H;Gaudino G
通讯作者：
Gaudino G
DOI：
10.1073/pnas.2019652117
发表时间：
2020-12-29
影响因子：
11.1
作者：
Bononi A;Goto K;Ak G;Yoshikawa Y;Emi M;Pastorino S;Carparelli L;Ferro A;Nasu M;Kim JH;Suarez JS;Xu R;Tanji M;Takinishi Y;Minaai M;Novelli F;Pagano I;Gaudino G;Pass HI;Groden J;Grzymski JJ;Metintas M;Akarsu M;Morrow B;Hassan R;Yang H;Carbone M
通讯作者：
Carbone M
DOI：
10.1016/j.jtho.2016.04.028
发表时间：
2016-08
期刊：
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
影响因子：
--
作者：
Carbone M;Kanodia S;Chao A;Miller A;Wali A;Weissman D;Adjei A;Baumann F;Boffetta P;Buck B;de Perrot M;Dogan AU;Gavett S;Gualtieri A;Hassan R;Hesdorffer M;Hirsch FR;Larson D;Mao W;Masten S;Pass HI;Peto J;Pira E;Steele I;Tsao A;Woodard GA;Yang H;Malik S
通讯作者：
Malik S
影响因子：
7.4
作者：
Comertpay, Sabahattin;Pastorino, Sandra;Carbone, Michele
通讯作者：
Carbone, Michele