Link to Leukemia in Those with Down's Syndrome
According to recent reports, a gene variant has been linked to acute lymphoblastic leukemia in Down’s syndrome. Researchers have found that one in five cases of Down’s syndrome cases are associated with this type of cancer.
Variants Associated with Illness
The variants associated with acute lymphoblastic leukemia are reportedly found on the Janus kinase (JAK2) gene in the human body. These types of mutations are commonly found to be linked with myeloproliferative disorders.
The findings were discovered from a genetic analysis of bone marrow in a study conducted among 88 patients living with acute lymphoblastic leukemia associated with Down’s syndrome. The study also analyzed 109 patients with sporadic B-cell precursor childhood acute leukemia, 11 patients with Down’s syndrome associated with acute megakaryoblastic leukemia and 96 patients that we found to be negative of the JAK2 genetic mutation. In addition to the patient studies, doctors and researchers also looked at 23 leukemia cells lines.
Results of the Study
The study found that over 18 percent of the children with Down’s syndrome and acute lymphoblastic leukemia had the genetic variant known as R683 locus. The children with the JAK2 mutation were found to be younger on average when they were diagnosed with this form of leukemia.
“The association between JAK2 and two different types of malignancy is striking and suggests that the nature and location of the mutation is crucial in dictating the perturbation of downstream signaling and eventual cancer phenotype," explains Charles Mulligan, M.D., of St. Jude Children's Research Hospital in Tennessee and one of the lead researchers in the studies.
