Familial Chronic Lymphocytic Leukemia: What Does it Mean to Me?
Familial Chronic Lymphocytic Leukemia: What Does it Mean to Me?
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DOI：
10.3816/clm.2009.s.011
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发表时间：
2009-09-01
期刊：
影响因子：
--
通讯作者：
Kay, Neil E.
中科院分区：
文献类型：
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作者：
Slager, Susan L.;Kay, Neil E.
尽管 B 慢性淋巴细胞白血病 (CLL) 被认为是一种异质性疾病，但直到最近才对 CLL 的家族因素进行了更彻底的研究。该实体常见于所有 CLL 患者的大约 5%-10%，可能与诊断年龄较早、女性患病率较高以及其他淋巴增殖性疾病 (LPD)（例如非霍奇金淋巴瘤和最近描述的家庭成员中的单克隆 B 细胞淋巴细胞增多症 CLL）发病率增加有关。家族性 CLL 的预后参数和临床病程与散发性疾病的预后参数和临床病程没有明显区别。此外，尚不清楚家族性 CLL 与散发性 CLL 的进展性疾病的治疗反应是否有任何明显差异。 CLL 的遗传病因尚不清楚，并且对家族性 CLL 的早期研究尚未发现任何与 CLL 病理生理学明显相关的明显基因或基因组。然而，家族性 CLL 的详细遗传学研究可能对于揭示相关基因至关重要。目前，最好向有关 CLL 患者表明，他们的亲属患 CLL 或其他 LPD 的风险相对较低。
Though B-chronic lymphocytic leukemia (CLL) is known to be a heterogeneous disease, only recently has the familial component of CLL been more thoroughly investigated. This entity is seen in approximately 5%-10% of all patients with CLL and can be associated with earlier age of diagnosis, higher female prevalence, and increased incidence of other lymphoproliferative disorders (LPDs), such as non-Hodgkin lymphoma and the more recently described monoclonal B-cell lymphocytosis CLL in family members. The prognostic parameters and clinical course of familial CLL is not clearly distinguishable from that of sporadic disease. In addition, it is not clear that the treatment responses for progressive disease has any discernible difference in familial versus sporadic CLL. The genetic etiology of CLL is unknown, and early work on familial CLL has not yet uncovered any obvious gene or group of genes that can be clearly related to the pathophysiology of CLL. However, the detailed genetic study of familial CLL is likely to be critical in uncovering relevant genes. At present it is best to indicate to concerned CLL patients that their relatives are at relatively low risk of developing CLL or other LPDs.