Improving diagnosis in idiopathic cytopenia using gene sequencing
Research type
Research Study
Full title
Improving diagnosis in idiopathic cytopenia using gene sequencing
IRAS ID
181550
Contact name
David Taussig
Contact email
Sponsor organisation
The Royal Marsden NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
10% of the cases referred to the specialist diagnostic haemato-pathology service at RMH are for cytopenias. Although we identify a cause in one third of cases of cytopenias, this leaves a significant proportion of patients without an answer.
The hypothesis we will test is that a proportion of patients with idiopathic cytopenias have mutations in myelodysplasic syndrome (MDS)-associated genes. We will sequence a panel of known MDS-associated genes in patient material (bone marrow and blood) that is sent routinely to the diagnostic service where conventional techniques have failed to establish a clear diagnosis. 200 patients with idiopathic cytopenia will be followed up to determine their survival, blood counts and development of acute leukaemia and other haematological malignancies. The clinical outcomes will be correlated with any mutations detected.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
16/YH/0142
Date of REC Opinion
10 May 2016
REC opinion
Further Information Favourable Opinion