Genomic Characterisation of adults with MPN
Research type
Research Study
Full title
Genomic and cytokine characterisation of Myeloproloferative Neoplasms.
IRAS ID
160331
Contact name
Claire Harrison
Contact email
Sponsor organisation
Guy's and St.Thomas' NHS Foundation Tru
Duration of Study in the UK
3 years, 0 months, 4 days
Research summary
Myeloproliferative neoplasms (MPN)) are a group of disorders characterised by an overactive bone marrow. Polycythaemia Vera (PV) is characterised by overproduction of red blood cells and Essential Thrombocythaemia by overproduction of platelets. Myelofibrosis is the most serious MPN associated with progressive scarring and failure of the bone marrow. DNA is the machinery within cells that ‘instructs’ them how to behave. Information within the DNA is known as the genetic code or ‘genome’. When someone develops an MPN then often there can be changes within this code. Some of these changes are known about (e.g. mutations in genes known as JAK2 and MPL) but it is likely that there are others. Many of the MPN disorders are typically diagnosed in patients around 60 years old or older. For this reason, most scientific knowledge about MPN and changes in the genetic code are derived from patients around this age and data about younger patients is lacking. The goal of our study is to specifically investigate changes within the genome in younger patients who have developed an MPN (aged 16 to 40 years old) and compare with older patients. We will study the genome of these cases to potentially discover novel gene mutations. We will also take a skin biopsy or mouth swab to enable us to compare the genetic code of the blood cells to other cells in the body. This allows us to assess if any mutations we find are acquired (i.e. occurred after birth at some stage)or constitutional (i.e. patients are born with it. Finally, we will also analyse a special type of DNA known as mitochondrial DNA, look at levels of inflammatory molecules known as cytokines in the blood and look at the length of 'caps' on the end of the chromosomes in cells which are known as telomeres.
REC name
London - Bromley Research Ethics Committee
REC reference
15/LO/0265
Date of REC Opinion
7 Apr 2015
REC opinion
Further Information Favourable Opinion