Germline mutations in BAP1 predispose to melanocytic tumors.
Germline mutations in BAP1 predispose to melanocytic tumors.
复制标题
DOI：
10.1038/ng.910
复制
发表时间：
2011-08-28
期刊：
影响因子：
30.8
通讯作者：
Speicher, Michael R.
中科院分区：
文献类型：
--
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.
常见的获得性黑素细胞痣是由小而均匀的黑素细胞组成的良性肿瘤，通常表现为皮肤上扁平或轻微升高的色素病变。我们描述了两个家庭与一个新的常染色体显性综合征的特点是多个皮肤颜色，升高的黑色素细胞肿瘤。与常见的获得性痣相比，受影响家族成员的黑素细胞肿瘤在组织病理学上从上皮样痣到非典型黑素细胞增生，表现出与黑色素瘤重叠的特征。一些受影响的患者发展为葡萄膜或皮肤黑色素瘤。与这种表型分离，我们发现失活的种系突变BAP1基因。大多数黑色素细胞肿瘤通过各种体细胞改变失去了BAP1的剩余野生型等位基因。此外，我们在散发性黑色素细胞肿瘤亚群中发现BAP1突变，显示出与家族性肿瘤的组织学相似性。这些发现表明BAP1的缺失与临床和形态学上不同类型的黑色素细胞肿瘤有关。
Common acquired melanocytic nevi are benign neoplasms that are composed of small uniform melanocytes and typically present as flat or slightly elevated, pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected patients developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of the BAP1 gene. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histologic similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.
登录
查看更多内容
影响因子：
14.9
作者：
Ramensky, V;Bork, P;Sunyaev, S
通讯作者：
Sunyaev, S
DOI：
10.1126/science.1194472
发表时间：
2010-12-03
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Harbour JW;Onken MD;Roberson ED;Duan S;Cao L;Worley LA;Council ML;Matatall KA;Helms C;Bowcock AM
通讯作者：
Bowcock AM
BRCA1相关蛋白-1是一种需要去泛素化活性和核定位的肿瘤抑制剂。
影响因子：
11.2
作者：
Ventii KH;Devi NS;Friedrich KL;Chernova TA;Tighiouart M;Van Meir EG;Wilkinson KD
通讯作者：
Wilkinson KD
影响因子：
12.3
作者：
Reva B;Antipin Y;Sander C
通讯作者：
Sander C
影响因子：
6.4
作者：
BUCHHAGEN, DL;QIU, LP;ETKIND, P
通讯作者：
ETKIND, P