| Summary: | Myeloproliferative neoplasms (MPNs) are rare haematological malignancies characterised by overproliferation of myeloid lineage haemocytes. There is a paucity of data on the aetiology of the classic MPNs subtypes polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF). While several cohort and case-control studies have investigated a wide range of potential medical, environmental and occupational risk factors, these studies have been limited by a wide variation in case def1nition and small sample sizes. A systematic review of the literature revealed an annual incidence rate of PV, ET and PMF of 0.84, 1.03, and 0.47 per 100,000, respectively. Collating global incidence rates reflected the rarity of MPNs warranting the need for improved, wide spread registration to better understand the worldwide incidence and prevalence of these diseases which we have demonstrated cause significant symptom burden and reduced quality of life compared to the general population. A pilot case-control study of 106 classic MPN cases and 127 controls was undertaken to determine the optimal methods for rollout of this study to a multi-centred UK-wide case-control study that will investigate the aetiology of MPN subtypes. Risk factors which have been previously associated with an increased risk of MPN including smoking, novel risk factors including increasing childhood household density, heart disease, 3+ CT scans and pig ownership have been identified. Some unexpected findings including an inverse association between mobile phone ownership, short haul air travel per year ~md alcohol consumption and MPN were observed. Overall, these studies conducted as part of this PhD project have demonstrated the rarity of the MPN in the general population, the burden of disease and identified potential novel risk factors. It has also optimised the methods required to conduct a larger study investigating MPN aetiology.
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