Report Discovers Mechanism for Two Mutations Linked to AML


Two cell mutations have been linked to acute myeloid leukemia, but the reason for their cooperation has been unknown.

Researchers at Cold Spring Harbor Laboratory have discovered that 2 cell mutations, IDH2 and the SRSF2 mutations, enhance each other’s effects and contribute to the development of acute myeloid leukemia (AML).

According to the study authors, the presence of the IDH2 mutation enhances the errors caused by the SRSF2 mutation, preventing cells in the bone marrow from maturing into the red and white blood cells a patient with AML needs to overcome the disease.

While examining patient data in The Cancer Genome Atlas, researchers found that deadly cases of AML had both IDH2 and SRSF2 mutations. And, although the mutations were known to be linked in prior research, it was only known that they were involved in pre-cancerous symptoms.

The researchers originally knew that 1 of these 2 mutations in question, the SRSF2 gene, causes errors in a crucial process called RNA splicing, which converts messages from DNA, called RNA, into readable instructions for a cell. At first, the researchers did not believe that splicing defects driven by SRSF2 were tied to AML because DNA tests show the mutations are present in only 1% of patients with AML. Yet, they found that the problem is more common, appearing approximately 11% of the time in patients with AML.

Kuan-Ting Lin, a researcher in the study, discovered the commonality of SRSF2 mutations in RNA, and moreover made connections while searching through data of patients with AML. Further experiments found that the severity of the identified SRSF2 splicing errors can be enhanced by the presence of the second mutation, IDH2, resulting in even more defective blood cells, according to the study.

The team is now exploring ways to stop these mutations from interacting with one another.


Mutant cells team up to make an even deadlier blood cancer [press release]. Cold Spring Harbor Laboratory website. Published October 2, 2019. Accessed October 3, 2019.

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