骨髓瘤中的遗传学：遗传技术及其在骨髓瘤筛查方法中的应用。
Genetics in myeloma: genetic technologies and their application to screening approaches in myeloma.
作者信息
Talley Polly J, Chantry Andrew D, Buckle Clive H
机构信息
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK
Sheffield Myeloma Research Team (SMaRT), Department of Oncology, University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX, UK.
出版信息
Br Med Bull. 2015 Mar;113(1):15-30. doi: 10.1093/bmb/ldu041. Epub 2015 Feb 6.
BACKGROUND
Despite advances in the treatment of multiple myeloma (MM), it remains an incurable malignant disease. Myeloma genetics is intrinsically complex, but it offers an opportunity to categorize the disease and apply a personalized medicine approach.
AREAS OF AGREEMENT
Research into the genetics of myeloma is moving at a fast pace and is highlighting areas and patient cohorts likely to benefit from specific treatment. Targeting residual disease is likely to be crucial to improved clinical outcome.
AREAS OF CONTROVERSY
Patients in clinical trials are more likely to receive genetic diagnosis than non-trial patients, for whom access is ad hoc and dependent upon regional commissioning arrangements.
AREAS TIMELY FOR DEVELOPING RESEARCH
Relating genetics to potential treatment pathways will become crucial for improved myeloma outcomes. Universal access to standardized genetic testing will facilitate modern personalized treatments.
背景
尽管多发性骨髓瘤（MM）的治疗取得了进展，但它仍然是一种无法治愈的恶性疾病。骨髓瘤遗传学本质上很复杂，但它为疾病分类和应用个性化医疗方法提供了机会。
共识领域
骨髓瘤遗传学研究进展迅速，正凸显出可能从特定治疗中获益的领域和患者群体。针对残留疾病可能对改善临床结果至关重要。
争议领域
与非试验患者相比，临床试验中的患者更有可能接受基因诊断，非试验患者获得基因诊断的机会是临时的，且取决于地区委托安排。
适合开展研究的领域
将遗传学与潜在治疗途径联系起来对于改善骨髓瘤治疗结果将变得至关重要。普遍获得标准化基因检测将促进现代个性化治疗。
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