Navigation Links
Researchers uncover genetic cause of childhood leukemia

NEW YORK, September 8, 2013 For the first time, a genetic link specific to risk of childhood leukemia has been identified, according to a team of researchers from Memorial Sloan-Kettering Cancer Center, St. Jude Children's Research Hospital, University of Washington, and other institutions. The discovery was reported online today in the journal Nature Genetics.

"We're in unchartered territory," said study author Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering. "At the very least this discovery gives us a new window into inherited causes of childhood leukemia. More immediately, testing for this mutation may allow affected families to prevent leukemia in future generations."

The mutation was first observed in a family treated at Memorial Sloan-Kettering of which several family members of different generations had been diagnosed with childhood acute lymphoblastic leukemia (ALL). A second, non-related, leukemia-prone family cared for at a different hospital was later found to have the same mutation. A series of experiments were conducted confirming that the observed mutation compromised the normal function of the gene, which may increase the risk of developing ALL.

The inherited genetic mutation is located in a gene called PAX5, which is known to play a role in the development of some B cell cancers, including ALL. PAX5, a transcription factor or "master gene," regulates the activity of several other genes and is essential for maintaining the identity and function of B cells. In all study participants, one of the two copies of the PAX5 gene was missing, leaving only the mutated version. The research continues as the researchers believe additional genetic factors played a role in the development of ALL in these patients.

ALL is the most common form of cancer in children, with 3,000 children and young adults being diagnosed each year in the United States.

Dr. Offit hopes that ongoing research will also determine what percentage of childhood ALL patients have the PAX5 mutation. Current estimates suggest that it is rare. Additionally, the newly discovered gene mutation may someday help scientists determine how to target transcription factors to treat other non-inherited forms of leukemia where the PAX5 mutation is present.

"With a better understanding of the genetic elements that induce cancer susceptibility, or drive cancer to grow, we can more precisely target therapy as well as potentially prevent cancer from occurring in the first place," added Dr. Offit.

In 1996, a similar study of cancer-prone families allowed Dr. Offit and his team to identify the most common mutation of BRCA2, associated with an increased risk of breast and ovarian cancer, and particularly common among individuals of Ashkenazi Jewish ancestry.


Contact: Andrea Molinatti
Memorial Sloan-Kettering Cancer Center

Related biology news :

1. Researchers discover rare fossil ape cranium in China
2. LSUHSC researchers develop new system to better study behavior, cell function
3. Drexel researchers looking inside vessels to understand bloods ebb and flow
4. Researchers discover a new pathway in blood vessel inflammation and disease
5. Researchers untangle genetics of drug resistant TB
6. Worlds scientists, researchers and nutrition experts convene to explore the benefits of mushrooms
7. Researchers track antibiotic-resistant strains of Salmonella from farm to fork
8. Researchers develop model of near-optimal genetic code
9. Researchers develop novel polymer to help oral medications reach the bloodstream
10. Researchers develop rapid, cost-effective early detection method for organ transplant injury
11. UTHealth, Swedish researchers uncover mystery in blot clotting disorder
Post Your Comments:
(Date:11/19/2015)... , Nov. 19, 2015  Based on its ... & Sullivan recognizes BIO-key with the 2015 Global Frost ... year, Frost & Sullivan presents this award to the ... catering to the needs of the market it serves. ... line meets and expands on customer base demands, the ...
(Date:11/18/2015)...  As new scientific discoveries deepen our understanding of ... providers face challenges in better using that knowledge to ... as more children continue to survive pediatric cancer, that ... age. John M. Maris, M.D ., a ... (CHOP) . --> John M. Maris, ...
(Date:11/17/2015)... 17, 2015 Paris from ... --> Paris from 17 th until ... biometrics innovation leader, has invented the first combined scanner in ... same scanning surface. Until now two different scanners were required: ... can capture both on the same surface. This innovation ...
Breaking Biology News(10 mins):
(Date:12/1/2015)... ... December 01, 2015 , ... ... month and Dr. J. Kyle Mathews will join fellow surgeons in ... single site hysterectomy. , An experienced urogynecologist, founder of Plano Urogynecology Associates and ...
(Date:11/30/2015)... ... November 30, 2015 , ... Global Stem Cells Group ... of a new closed system for isolating adipose-derived stem cells. The announcement starts a ... of adipose tissue. SVF is a component of the lipoaspirate obtained from liposuction of ...
(Date:11/30/2015)... , Dec. 1, 2015 /PRNewswire/ - BioAmber Inc. (NYSE: BIOA ... has joined the American Business Act on Climate Pledge, alongside ... are standing with the Obama Administration to demonstrate an ongoing ... strong outcome to the COP21 Paris ... --> Sarnia, Canada . --> ...
(Date:11/30/2015)... CALGARY , Nov. 30, 2015 /PRNewswire/ - Zenith Epigenetics ... appointed Dr. Norman C.W. Wong to its Board ... Wong comes to Zenith with a wealth of experience as ... and molecular biology. --> --> ... joining Zenith Epigenetics, board of directors. Zenith,s long standing expertise ...
Breaking Biology Technology: