Two medical researchers from the Children’s Hospital of Michigan and Wayne State University School of Medicine have identified a gene mutation that can trigger acute lymphoblastic leukemia, one of the most common types on cancer in children, along with other types of cancer.
“Because of this finding, families will eventually be counseled regarding their risk for some kinds of cancer and targeted interventions will be devised and tested,” says Dr. Steven Lipshultz, pediatrician-in-chief of the Children’s Hospital and the chair of the WSU School of Medicine department of pediatrics.
The study began about 10 years ago when Dr. Madhvi Rajpurkar, a doctor at the Children’s Hospital, treated a child for low blood platelets. The child and an aunt later developed acute lymphoblastic leukemia, a type of cancer that can be found in blood and bone marrow. She suspected there might be a genetic mutation in the family. Rajpurkar, now a professor of pediatrics at Wayne State, and others worked to isolate and identify the mutation in a gene that regulates growth rates in bone marrow.
The study resulted in a new association between a genetic mutation and leukemia that can now be scanned for.
Called “Germline Mutations in ETV6 are Associated with Thrombocytopenia, Red Cell Macrocytosis and Predisposition to Lymphoblastic Leukemia” was published in Nature Genetics. To download the study, click hereâ€‹.