24 January 2022

Some mutations which cause blood cancer can develop very early in life and proliferate over decades before symptoms are evident, British researchers have reported.

Dr Jyoti Nangalia, of the Wellcome Sanger Institute, and colleagues explain in Nature that mutations in cancer-associated genes drive tumour growth, but the timing of these mutations is largely unknown.

The team used whole-genome sequencing of blood cells from 12 patients with Philadelphia-negative myeloproliferative neoplasms, together with genetic analysis of bone marrow and blood samples, to establish the ‘family history’ of their blood cancers.

The most common cause of myeloproliferative neoplasms is a mutation called JAK2V617F. This causes blood cells to multiply at different rates in different people, with faster growth linked to earlier cancer symptoms.

In these participants, the first cancer-linked mutations emerged between a few weeks after conception up to 12 years of age. The average time between acquiring a JAK2V617F mutation and diagnosis of blood cancer was 30 years.

The researchers hope that in future, it might be possible to detect these cancer warning signs earlier.

Lead author Dr Nicholas Williams said: “This in-depth process has given us new insight into the development of blood cancer.”

Co-author Professor Peter Campbell added: “For the first time our research has allowed us to trace when JAK2V617F mutations occurred in this specific type of blood cancer.

“Further research is now needed to see how this new information could help detect cancers sooner and if there are any existing or new therapies that could help treat the disease earlier.”


Williams N, Lee J, Mitchell E, Moore L, Baxter EJ, Hewinson J, Dawson KJ, Menzies A, Godfrey AL, Green AR, Campbell PJ, Nangalia J. (2022) “Life histories of myeloproliferative neoplasms inferred from phylogenies.” Nature, doi: 10.1038/s41586-021-04312-6

Link: https://www.nature.com/articles/s41586-021-04312-6   

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