Inherited predisposition to chronic lymphocytic leukemia.
Inherited predisposition to chronic lymphocytic leukemia.
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DOI：
10.1586/17474086.1.1.51
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发表时间：
2008-10
影响因子：
2.8
通讯作者：
Brown JR
中科院分区：
文献类型：
--
作者：
Brown JR
慢性淋巴细胞白血病（CLL）的遗传易感性已经被认识了几十年。大约10%的CLL患者报告有CLL或相关淋巴细胞增生性疾病的家族史，遗传易感性是最清楚的CLL危险因素。家族性CLL的研究表明，该疾病的特征与散发性CLL非常相似，尽管最近的数据表明，家族性CLL可能更常见地表现为免疫球蛋白重链可变区体细胞高突变，这表明疾病过程更为缓慢。单克隆b细胞淋巴细胞增多症（MBL）最近被确定为CLL的可能前体；随着年龄的增长，它在一般人群中被发现，并且在家族性CLL患者的未受影响的亲属中富集。对MBL以及CLL小鼠模型的研究可能有助于更好地了解与家族易感性相关的CLL早期发病机制。迄今为止，家族性CLL易感性基因的鉴定进展缓慢，主要是由于可用于研究的家族相对较少，这些家族的规模较小，以及疾病的病因很可能是由多个基因引起的，每个基因的风险较小。在未来几年，系统基因组学方法在家族性CLL中的应用应该有望导致识别与该疾病有关的新位点。
Inherited susceptibility to chronic lymphocytic leukemia (CLL) has been recognized for decades. Approximately 10% of individuals with CLL report a family history of CLL or a related lymphoproliferative disorder, and genetic predisposition is the best understood risk factor for CLL. Studies of familial CLL have suggested that the disease features are largely similar to sporadic CLL, although recent data suggest that familial CLL may more commonly show somatic hypermutation of the immunoglobulin heavy-chain variable region, suggesting a more indolent disease course. Monoclonal B-cell lymphocytosis (MBL) has been identified recently as a likely precursor to CLL; it is found in the general population with increasing age and enriched in unaffected relatives of individuals with familial CLL. Studies of MBL as well as mouse models of CLL may lead to better understanding of early CLL pathogenesis that is relevant to familial predisposition. To date, the identification of genes that predispose to familial CLL has been slow, primarily due to the relatively few families available for study, the small size of those families and disease causation most likely by multiple genes that each confer smaller risks. In the coming years, the application of systematic genomics approaches to familial CLL should, hopefully, lead to the identification of novel loci involved in the disease.
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影响因子：
158.5
作者：
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通讯作者：
Croce, CM
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