Development of a national framework for the investigation and management of familial leukaemia

遗传性血液系统恶性肿瘤被认为是罕见的，尽管确切的发病率和流行率尚不清楚。2016年，将家族性髓系恶性肿瘤作为一个单独的疾病实体列入世界卫生组织(世卫组织)血液学癌症分类，有助于更好地认识到这些可遗传形式疾病的存在，突出了早期诊断和量身定制管理的重要性，以及对受影响患者和家庭进行适当遗传咨询和长期监测的潜在好处。世界卫生组织的分类重申了全面了解这些遗传性髓系恶性肿瘤的自然历史和遗传学的重要性(包括50%的遗传基础未知的病例)，以便确定疾病轨迹并为结果预测和治疗策略提供信息；而不是遵循有时由主治血液学家酌情考虑的轶事证据。伦敦玛丽女王大学(QMUL)的研究小组和Tawana博士是这一研究领域的国际公认领导者，他们的任务是提高我们对家族性髓系白血病遗传基础的理解，确保可能患有遗传性髓系恶性肿瘤的个人得到准确和及时的诊断，以便患者及其家人能够得到适当的治疗和监测。这一不断发展的领域需要持续的研究来描述这些相对罕见的疾病，并提高对这一独特的高危人群的更多认识。

Inherited forms of haematological malignancies are thought to be rare, although the precise incidence and prevalence are not known. The inclusion of familial myeloid malignancies as a separate disease entity in the World Health Organization (WHO) classification of haematological cancers in 2016 has contributed to a greater awareness of the existence of these heritable forms of disease, highlighting the importance of early diagnosis and tailored management, in addition to the potential benefit of appropriate genetic counselling and long-term surveillance for the affected patients and families. The WHO classification has reaffirmed the importance of gaining a comprehensive understanding of both the natural history and genetics of these inherited myeloid malignancies (including the 50% of cases where the genetic basis is unknown), in order to define the disease trajectory and inform outcome prediction and treatment strategy; rather than following what can, at times, be anecdotal evidence considered at the discretion of the attending haematologist. The group at Queen Mary University of London (QMUL) and Dr Tawana are recognised internationally as leaders in this area of research and are tasked with improving our understanding of the genetic basis of familial myeloid leukaemia, ensuring that individuals with a possible inherited myeloid malignancy are diagnosed accurately and promptly, so patients and their families can be appropriately treated and monitored. This evolving field requires continued research to characterise these relatively rare disorders and raise greater awareness of this unique group of at risk individuals.