遗传性慢性淋巴细胞白血病:一项大家庭研究及文献回顾。

Henry T Lynch, Dennis D Weisenburger, Brigid Quinn-Laquer, Patrice Watson, Jane F Lynch, Warren G Sanger
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引用次数: 17

摘要

在西方工业化国家,白血病发病率约为1-2%。最常见的白血病是b细胞慢性淋巴细胞白血病(B-CLL),约占所有病例的30%。虽然CLL的病因仍然难以捉摸,但越来越多的证据表明,遗传因素在部分CLL病例中的作用得到了极大的支持。我们的目的是描述一个极好记录的CLL家族,其中该疾病已在父亲和他的四个儿子中得到证实;其中两个儿子是同卵双胞胎。收集和审查了家族史,包括现有的医疗记录和病理报告。外周血淋巴细胞进行细胞遗传学和荧光原位杂交分析。本文报道的家族显示了支持CLL常染色体显性遗传模式的经典发现。鉴于分子遗传学在过去十年中的爆炸性发展,可以肯定的是,这种类型的家庭将为CLL的病因、发病机制和最终预防提供重要线索。
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Hereditary chronic lymphocytic leukemia: an extended family study and literature review.

Leukemia is manifested in about 1-2% of people in Western industrialized nations. The most common form of leukemia is B-cell chronic lymphocytic leukemia (B-CLL), which accounts for approximately 30% of all cases. While CLL's etiology remains elusive, there is increasing evidence that substantially supports the role of hereditary factors in a subset of cases of this disease. Our purpose is to describe an extremely well documented CLL family wherein the disease has been verified in a father and his four sons; two of the sons are identical twins. The family history, including available medical records and pathology reports, was gathered and reviewed. Peripheral blood lymphocytes were used for cytogenetic and fluorescence in situ hybridization analyses. The family reported herein shows classic findings in support of an autosomal dominant mode of genetic transmission of CLL. Given the explosive developments in molecular genetics during the past decade, it is certain that families of this type will provide important clues to the etiology, pathogenesis, and ultimate prevention of CLL.

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