Section of Hematology/Oncology, Department of Medicine and Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.
Leuk Lymphoma. 2013 Jan;54(1):28-35. doi: 10.3109/10428194.2012.701738. Epub 2012 Jul 9.
As with most genetic cancer predisposition syndromes, inherited susceptibility to myelodysplastic syndrome (MDS) and acute leukemia (AL) is likely to be more common than previously appreciated. As next-generation sequencing technologies become integrated into clinical practice, we anticipate that the number of cases of familial MDS/AL identified will increase. Although the existence of syndromes predisposing to MDS/AL has been known for some time, clinical guidelines for the screening and management of suspected or confirmed cases do not exist. Based on our collective experience caring for families with these syndromes, we propose recommendations for genetic counseling, testing, and clinical management. We welcome discussion about these proposals and hope that they will catalyze an ongoing dialog leading to optimal medical and psychosocial care for these patients.
与大多数遗传性癌症易感性综合征一样，骨髓增生异常综合征（MDS）和急性白血病（AL）的遗传易感性可能比以前认为的更为常见。随着下一代测序技术融入临床实践，我们预计将发现更多家族性 MDS/AL 病例。虽然某些综合征易导致 MDS/AL 已经有一段时间了，但目前尚无针对疑似或确诊病例的筛查和管理的临床指南。基于我们在照顾这些综合征患者的家庭方面的集体经验，我们提出了有关遗传咨询、检测和临床管理的建议。我们欢迎对此类建议进行讨论，并希望这些建议能够推动开展持续的对话，为这些患者提供最佳的医疗和心理社会护理。
