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

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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.