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Title: Variants of JAK2 Gene Linked to Down's Syndrome-Associated ALL
URL: http://www.pslgroup.com/dg/22D3B6.htm
Doctor's Guide
September 22, 2008

NEW YORK -- September 22, 2008 -- The identification of mutations in the JAK2 gene involved in Down's syndrome-associated acute lymphoblastic leukaemia (ALL) could lead to new drugs to target this form of leukaemia, according to a study published early online and in an upcoming issue of The Lancet.

Shai Izraeli, MD, Sheba Medical Centre, Ramat Gan, Israel, and colleagues tested the hypothesis that mutations in JAK2 might be a common molecular event in ALL associated with Down's syndrome, because JAK2 mutations have been implicated in myeloproliferative disorders.

An analysis of bone marrow samples from 87 patients with Down's syndrome-associated ALL revealed that 16 (18%) had somatically acquired JAK2 mutations. Children with a JAK2 mutation were younger (4.5 years) at diagnosis with ALL compared with those who did not have this mutation (8.6 years). Five mutations were identified, each affecting a single amino-acid residue in the protein encoded by gene R683.

The authors concluded that a specific association exists between the type of somatic mutation in the JAK2 gene and the development of conditions such as ALL. "Somatically acquired R683 JAK2 mutations define a distinct acute lymphoblastic leukaemia subgroup that is uniquely associated with Down's syndrome. JAK2 inhibitors could be useful for treatment of this leukaemia."

In an accompanying comment, Charles G. Mullighan, MD, St. Jude Children's Research Hospital, Memphis, Tennessee, discusses how resequencing of entire genomes is now feasible and is underway in leukaemia and other tumours.

"These approaches, coupled with genome-wide analyses of alterations to DNA copy number and epigenetic phenomena, will lay bare the genome of acute lymphoblastic leukaemia, and allow us to identify logical pathways for therapeutic intervention in this disease," said Dr. Mullighan.


SOURCE: The Lancet

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