Inherited Leukemia Gene Discovered

GATA2 gene mutations predispose people to acute myeloid leukemia and myelodysplasia

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Researchers have had success in identifying genetic errors that lead to a number of different types of cancers. This hasn't been the case with blood cancers, though - until now.

Scientists have discovered that mutations on the GATA2 gene predispose carriers to two blood disorders - acute myeloid leukemia (AML) and myelodysplasia.

"Genetic error increases risk of leukemia."

Four unrelated families were studied. Several generations had members who developed AML, which appeared from the teens to the early 40s.

A condition known as myelodysplastic syndrome starts in the bone marrow and is characterized by difficulty forming certain types of blood cells. This can move into ACL, in which  abnormal white blood cells build up too rapidly and interfere with the normal production of blood.

This discovery is the result of an international collaboration. The U.S. part of the study was led by Dr. Marshall Horwitz, University of Washington (UW) professor of pathology.

Researchers in the United States and in Australia had described families with an inherited blood disease. It wasn't until 18 years later that they realized the same gene - GATA2 - was responsible for the leukemia.

Eventually, people who have a family history of leukemia may be tested for this genetic mutation.

These findings may also lead to the development of new therapies to treat AML and myelodysplasia.

This research appears in the September 4, 2011 issue of Nature Genetics.

Reviewed by: 
Review Date: 
September 12, 2011
Last Updated:
November 8, 2012