British Society for Haematology. Listening. Learning. Leading British Society for Haematology. Listening. Learning. Leading
20 April 2018

A large scale study has uncovered novel regions of the genome involved in multiple myeloma, giving insight into development of the disease.

Writing in the journal Leukemia, scientists at the Institute of Cancer Research, London, report the discovery of mutations both in novel genes and in many regulatory regions not previously investigated.

The team performed sequencing of coding areas of DNA from 804 myeloma patients and, importantly, whole genome sequencing from another 765 patients. This allowed the capture of alterations to regulatory regions whose mutation can have widespread impact on gene expression.

Tumour suppressors PAX5 and HOXB3 were found to be downregulated by non-coding mutations, consistent with their decreased expression contributing to the development and progression of myeloma, the researchers say.

The discoveries add TWEAK, TRAF2 and PRKD2 to the list of genes in myeloma that are disrupted by coding mutations, COBLL1 as dysregulated by mutations in non-coding DNA and MAP3K14 was upregulated by DNA reorganisation, according to the findings.

Researcher Professor Richard Houlston said: “We need smarter, kinder treatments for myeloma that are more tailored to each person's cancer. Exhaustive genetic research like this is helping us to make that possible.

“Our findings should now open up new avenues for discovering treatments that target the genes driving myeloma.”

Dr Simon Ridley, director of research, at Myeloma UK, which backed the study, said: “This new research is a valuable step forward in our understanding of the complex genetic changes which drive myeloma. More research investment is needed to understand fully the genetic and molecular processes behind myeloma and related diseases, and to translate this knowledge towards patient benefit.”


Source: Hoang, P.H., Dobbins, S.E., Cornish, A.J., Chubb, D., Law, P.J., Kaiser, M. and Houlston, R.S., 2018. Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms. Leukemia, p.1.

Link: https://www.nature.com/articles/s41375-018-0103-3

 

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