Mutations in genes PU.1 and Spi-B causes acute lymphoblastic leukemia


Researchers at The University of Western Ontario have identified genes that may be important for preventing childhood leukemia.

Acute lymphoblastic leukemia ( ALL ) is a cancer of the blood that occurs primarily in young children. It's frequently associated with mutations or chromosomal abnormalities that arise during embryonic or fetal development.

Working with mice, researchers led by Rodney DeKoter identified two key genes that appear essential in the prevention of B cell ALL, the most common form of ALL in children.
The study is published in Blood.

In the study, mice were generated with mutations in two genes called PU.1 and Spi-B. Mutation of either PU.1 or Spi-B individually had little effect. Unexpectedly, mutation of both genes resulted in 100% of the mice developing B cell ALL. Eighty percent of acute lymphoblastic leukemia cases in children are of the B cell type. The study found PU.1 and Spi-B have unanticipated functional redundancy as tumor suppressor genes that prevent leukemia.

PU.1 is an essential regulator in the development of the immune system, and mutations in this gene have been previously associated with human acute lymphoblastic leukemia.

Currently, about 80% of acute lymphoblastic leukemia patients go into complete remission when treated with aggressive chemotherapy.

Source: University of Western Ontario, 2011

XagenaMedicine2011


Link: Xapedia - Medical Encyclopedia