14 November 2016

Scientists have created a map of genes linked to a specific form of acute myeloid leukaemia.

This map represents the wide diversity of genetic variations that contribute to the development of core-binding factor acute myeloid leukaemia. In creating it, Dr Jeffery Klco of St. Jude Children's Research Hospital, Memphis, USA, and his team sequenced genetic samples from 87 children and 78 adults.

This showed a similar "mutational landscape" in both groups, they reported in Nature Genetics.

"In addition to known mutations in the Ras pathway, we identified recurrent stabilising mutations in CCND2, suggesting a previously unappreciated cooperating pathway in core-binding factor acute myeloid leukaemia," they state.

They also identified a range of mutations involved in epigenetic regulation, as well as several mutations that may contribute as cooperating mutations.

"This detailed analysis provides insights into the pathogenesis and development of core-binding factor acute myeloid leukaemia, while highlighting dramatic differences in the landscapes of cooperating mutations for these related acute myeloid leukaemia subtypes," they add.

Dr Klco comments: "We set out to understand the genetic variations that contribute to the development of core-binding factor acute myeloid leukaemia using whole-exome and whole-genome sequencing.

"Our goal was to define a detailed mutational landscape to understand better the genetic changes that contribute to disease."

"One or more cooperating mutations are needed for leukaemia to take hold," Dr Klco said. "Our analysis showed dramatic differences in the genetic landscapes of these cooperating mutations for core-binding factor acute myeloid leukaemia."

He added: "In some cases we were also able to look at the types of mutations at diagnosis and relapse to understand how the disease changes over time, and we hope to build on this work moving forward."

Faber, Z. J. et al. The genomic landscape of core-binding factor acute myeloid leukemias. Nature Genetics 31 October 2016; doi:10.1038/ng.3709




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