Myeloproliferative neoplasms - personal stories
Blood cancers
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Professor Tony Green
Professor Tony Green is one of the world’s leading specialists in myeloproliferative neoplasms (MPN) and Leukaemia & Lymphoma Research has supported his research at the University of Cambridge for over 15 years. His team have made significant advances in classifying MPNs which is helping doctors to accurately diagnose patients.
The main types of MPNs are: essential thrombocythemia (ET), where too many platelet cells are produced; and polycythaemia vera (PV), where too many red cells are produced. A major complication of the MPNs is the formation of blood clots that can result in a stroke or a heart attack.
A third, more serious form of MPN is a condition called myelofibrosis, which causes scarring of the bone marrow and a failure to produce enough blood cells. Patients with a MPD can also develop a secondary acute form of leukaemia that is extremely difficult to treat.
Professor Green’s team were among the first to identify a mutated gene, called JAK2, which is present in the majority of MPN patients and which is thought to be responsible for the over production of blood cells.
Professor Green has been able to combine his laboratory research with information collected from patients entered into clinical trials. Professor Green says: “Our approach of integrating patient information with laboratory studies has led to significant advances that have improved the diagnosis of MPNs and revised the classification of the different MPNs. These studies are laying the foundations for the development of new treatments."
Professor Nick Cross
Professor Nick Cross and his team at the University of Southampton have shown that people can be genetically susceptible to the series of rare blood cancers known as myeloproliferative neoplasms (MPNs). His team have identified a particular area of the patient’s DNA which is prone to developing mutations.
Professor Cross discovered that a particular region of chromosome 9 that carries the JAK2 gene is predisposed to acquiring mutations, but only in individuals with a particular genetic makeup. It is likely that this finding will lead to a much better understanding of how the JAK2 gene mutations happen and why they lead to an increased risk of someone developing an MPN.
The team at the laboratory, which is part of the University of Southampton, found that people carrying this mutation-prone region of DNA on chromosome 9, which includes the JAK2 gene, have triple the risk of developing a MPN.
The link is especially strong in polycythaemia vera (PV), one of the main three MPNs. Professor Cross says: "Our research provides strong evidence that at least half of the cases of PV diagnosed each year are linked to an inherited genetic variant on chromosome 9. Whilst this risk is still very small it nonetheless confirms that individual susceptibility is linked to genetic inheritance."
