Improving the diagnosis of myeloid malignancies
Research type
Research Study
Full title
Development of laboratory techniques to improve the diagnosis of patients with myeloid malignancies
IRAS ID
190526
Contact name
Catherine Cargo
Contact email
Sponsor organisation
Leeds Teaching Hospitals NHS Trust
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
The chronic myeloid malignancies, including Myelodysplastic Syndromes (MDS), Myeloproliferative Neoplasms (MPN) and overlapping syndromes (MDS/MPN), are bone marrow cancers commonly affecting those >60years which lead to the over or underproduction of blood cells and have an increased risk of progression to acute myeloid leukaemia (AML). The current diagnosis and subclassification of these diseases, particularly MDS and MDS/MPN, relies heavily on visual evaluation of the bone marrow however this is problematic due to poor concordance when recognising abnormalities and the numerous non-cancerous conditions which can mimic these disorders. The result is that a proportion of cases go undiagnosed and are only recognised much later in the natural history of disease when prognosis is poor and survival times are short. Earlier detection in these patients could significantly improve survival by allowing timely intervention.
The chronic myeloid malignancies are caused by acquired genetic abnormalities which can be detected using novel technologies in >90% of patients. The high frequency of abnormalities means it may be feasible to use the presence of a genetic abnormality as a core measure of disease. However, there have been recent reports that mutations frequently found in these diseases can also be seen in healthy individuals with no evidence of malignancy. This highlights the need for evidence-based research to guide the development of diagnostic guidelines, incorporating molecular testing. The present study aims to achieve this by performing molecular tests alongside current gold standard techniques in a large population based cohort of samples referred for investigation of a suspected myeloid malignancy. Any potential benefit to molecular testing will be determined by correlating molecular results with conventional diagnosis and with clinical outcome data to determine the impact of any genetic mutations identified. This should ultimately improve diagnosis and outcome for these patients. This application extends the ethics of a study currently underway.
REC name
North East - York Research Ethics Committee
REC reference
16/NE/0105
Date of REC Opinion
24 Mar 2016
REC opinion
Favourable Opinion