BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs.
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs.
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DOI：
10.1186/1479-5876-10-179
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发表时间：
2012-08-30
影响因子：
7.4
通讯作者：
Yang H
中科院分区：
文献类型：
--
作者：
Carbone M;Ferris LK;Baumann F;Napolitano A;Lum CA;Flores EG;Gaudino G;Powers A;Bryant-Greenwood P;Krausz T;Hyjek E;Tate R;Friedberg J;Weigel T;Pass HI;Yang H
BRCA 1相关蛋白1（BAP 1）是位于染色体3 p21上的肿瘤抑制基因。生殖系BAP 1突变最近与恶性间皮瘤，非典型黑色素细胞肿瘤和其他肿瘤的风险增加有关。为了回答这个问题，如果不同的生殖系BAP 1突变可能倾向于一个单一的综合征与广泛的表型范围或不同的综合征，我们调查了黑素细胞肿瘤的存在在两个不相关的家庭（L和W）与生殖系BAP 1突变和恶性间皮瘤的风险增加。可疑的皮肤病变的临床和病理特征，并与那些存在于其他家庭携带BAP 1突变。然后，我们对所有报告BAP 1突变家族的研究进行了荟萃分析，以调查与生殖系BAP 1突变相关的癌症风险（使用t检验比较均值，使用Pearson χ2检验或双尾Fisher精确检验比较比例）。黑素细胞肿瘤：在所研究的L家族的5个成员中，4个（80%）携带生殖系BAP 1突变（p.Gln684*），并且还呈现一个或多个非典型黑素细胞肿瘤; W家族7个成员均携带BAP 1基因突变（p.Pro147fs*48），其中4例（57%）出现一个或多个非典型黑色素细胞肿瘤，我们建议称之为“黑素细胞BAP 1突变的非典型皮内肿瘤”（MBAIT）。Meta分析：选取7个家系118名个体，分为BAP 1突变组和非突变组。恶性间皮瘤、葡萄膜黑色素瘤、皮肤黑色素瘤和MBAIT的患病率在BAP 1突变队列中显著较高（p ≤ 0.001）。生殖系BAP 1突变与一种新的癌症综合征相关，其特征为恶性间皮瘤、葡萄膜黑色素瘤、皮肤黑色素瘤和MBAIT，并可能与其他癌症相关。MBAIT为医生提供了一种标记物，用于识别可能携带生殖系BAP 1突变的个体，从而具有患相关癌症的高风险。
BRCA1–associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms. To answer the question if different germline BAP1 mutations may predispose to a single syndrome with a wide phenotypic range or to distinct syndromes, we investigated the presence of melanocytic tumors in two unrelated families (L and W) with germline BAP1 mutations and increased risk of malignant mesothelioma. Suspicious cutaneous lesions were clinically and pathologically characterized and compared to those present in other families carrying BAP1 mutations. We then conducted a meta-analysis of all the studies reporting BAP1-mutated families to survey cancer risk related to the germline BAP1 mutation (means were compared using t-test and proportions were compared with Pearson χ2 test or two-tailed Fisher’s exact test). Melanocytic tumors: of the five members of the L family studied, four (80%) carried a germline BAP1 mutation (p.Gln684*) and also presented one or more atypical melanocytic tumors; of the seven members of W family studied, all carried a germline BAP1 mutation (p.Pro147fs*48) and four of them (57%) presented one or more atypical melanocytic tumors, that we propose to call “melanocytic BAP1-mutated atypical intradermal tumors” (MBAITs). Meta-analysis: 118 individuals from seven unrelated families were selected and divided into a BAP1-mutated cohort and a BAP1-non-mutated cohort. Malignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the BAP1-mutated cohort (p ≤ 0.001). Germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and MBAITs, and possibly by other cancers. MBAITs provide physicians with a marker to identify individuals who may carry germline BAP1 mutations and thus are at high risk of developing associated cancers.
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影响因子：
30.8
作者：
Wiesner, Thomas;Obenauf, Anna C.;Murali, Rajmohan;Fried, Isabella;Griewank, Klaus G.;Ulz, Peter;Windpassinger, Christian;Wackernagel, Werner;Loy, Shea;Wolf, Ingrid;Viale, Agnes;Lash, Alex E.;Pirun, Mono;Socci, Nicholas D.;Ruetten, Arno;Palmedo, Gabriele;Abramson, David;Offit, Kenneth;Ott, Arthur;Becker, Juergen C.;Cerroni, Lorenzo;Kutzner, Heinz;Bastian, Boris C.;Speicher, Michael R.
通讯作者：
Speicher, Michael R.
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
8
作者：
Jensen, DE;Proctor, M;Rauscher, FJ
通讯作者：
Rauscher, FJ
影响因子：
4
作者：
Abdel-Rahman MH;Pilarski R;Cebulla CM;Massengill JB;Christopher BN;Boru G;Hovland P;Davidorf FH
通讯作者：
Davidorf FH
影响因子：
5.3
作者：
Yu, Helen;Mashtalir, Nazar;Affar, El Bachir
通讯作者：
Affar, El Bachir