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高危多血液恶性肿瘤亚型家族中共同遗传病因的证据。

Evidence for a common genetic aetiology in high-risk families with multiple haematological malignancy subtypes.

机构信息

Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia.

出版信息

Br J Haematol. 2010 Aug;150(4):456-62. doi: 10.1111/j.1365-2141.2010.08267.x. Epub 2010 Jun 15.

DOI:10.1111/j.1365-2141.2010.08267.x
PMID:20560968
Abstract

A family history of a haematological malignancy (HM) is known to be a risk factor for HMs. However, collections of large families with multiple cases of varied disease types are relatively rare. We describe a collection of 12 families with dense aggregations of multiple HM subtypes. Cases were ascertained from a population based study conducted between 1972 and 1980 in Tasmania, Australia. Diagnoses were confirmed through review and re-examination of stored tissue, pathology reports, Tasmanian Cancer Registry and flow cytometry records. Family trees were generated and kinship coefficients were calculated for all pairs of affected individuals. 120 cases were found in these families. Cases diagnosed with chronic lymphocytic leukaemia (CLL) demonstrated the most significantly increased aggregation (P < 0.0001). There was also significant evidence that those individuals diagnosed at an older age (>53 years), did not aggregate together in families with disease that presented at an earlier age (<20 years) (P = 0.009).

摘要

家族性血液恶性肿瘤(HM)病史是 HM 的一个风险因素。然而,具有多种疾病类型的大量家族集合相对较少。我们描述了一个由 12 个家族组成的集合,这些家族中存在多种 HM 亚型的密集聚集。病例是从 1972 年至 1980 年在澳大利亚塔斯马尼亚进行的基于人群的研究中确定的。通过对储存的组织、病理报告、塔斯马尼亚癌症登记处和流式细胞术记录的审查和重新检查,确认了诊断。为所有受影响个体对生成了家族树并计算了亲缘系数。在这些家庭中发现了 120 例病例。被诊断为慢性淋巴细胞白血病(CLL)的病例显示出最显著的聚集增加(P < 0.0001)。还有证据表明,那些在年龄较大(>53 岁)时被诊断出的个体不会聚集在疾病发病年龄较早(<20 岁)的家族中(P = 0.009)。

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2
A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study.塔斯马尼亚家族性血液系统恶性肿瘤研究中平均相对端粒长度的回顾性分析。
Oncol Rep. 2015 Jan;33(1):25-32. doi: 10.3892/or.2014.3568. Epub 2014 Oct 24.