Menzies Research Institute, University of Tasmania, 17 Liverpool Street, Hobart, TAS 7000, Australia.
Blood. 2011 Jan 27;117(4):1308-10. doi: 10.1182/blood-2010-07-296475. Epub 2010 Nov 29.
We describe a collection of 11 families with ≥ 2 generations of family members whose condition has been diagnosed as a hematologic malignancy. In 9 of these families there was a significant decrease in age at diagnosis in each subsequent generation (anticipation). The mean age at diagnosis in the first generation was 67.8 years, 57.1 years in the second, and 41.8 years in the third (P < .0002). This was confirmed in both direct parent-offspring pairs with a mean reduction of 19 years in the age at diagnosis (P = .0087) and when the analysis was repeated only including cases of mature B-cell neoplasm (P = .0007). We believe that these families provide further insight into the nature of the underlying genetic mechanism of predisposition in these families.
我们描述了 11 个家族，这些家族至少有两代以上的家庭成员被诊断患有血液系统恶性肿瘤。在其中 9 个家族中，每个后续世代的诊断年龄都显著降低（ anticipation ）。第一代的平均诊断年龄为 67.8 岁，第二代为 57.1 岁，第三代为 41.8 岁（P<.0002）。这在直接的父母-子女对中得到了证实，诊断年龄平均降低了 19 岁（P=.0087），当仅包括成熟 B 细胞肿瘤的病例进行分析时，结果也是如此（P=.0007）。我们认为这些家族进一步揭示了这些家族中易感性潜在遗传机制的本质。
