Quinn Emily, Nichols Kim E
Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.
Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.
Semin Hematol. 2017 Apr;54(2):115-122. doi: 10.1053/j.seminhematol.2017.04.003. Epub 2017 Apr 7.
The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. We review the demographics, genetic mechanisms of disease, diagnostic approach, malignancy risk, and management for the following five cancer predisposition syndromes associated with myeloid malignancies: Li-Fraumeni, constitutional mismatch repair deficiency, Werner, Bloom, and Nijmegen breakage.
大多数髓系恶性肿瘤是由散发性体细胞事件引起的，而非癌症易感性。尽管如此，在照顾髓系恶性肿瘤患者时，识别遗传性癌症易感性综合征至关重要，因为检测结果可能指导与癌症治疗和监测相关的决策。基因检测阳性结果对其他家庭成员也具有重要意义，他们可以利用这些信息进行自身检测，以确定自己患癌的风险。我们综述了与髓系恶性肿瘤相关的以下五种癌症易感性综合征的人口统计学、疾病遗传机制、诊断方法、恶性肿瘤风险及管理：李-佛美尼综合征、遗传性错配修复缺陷、沃纳综合征、布卢姆综合征和奈梅亨断裂综合征。
