Navigation Links
Mutation discovery may improve treatment for rare brain tumor type
Date:1/12/2014

BOSTON, Jan. 12, 2014 -- Scientists have identified a mutated gene that causes a type of tenacious, benign brain tumor that can have devastating lifelong effects. Currently, the tumor can only be treated with challenging repeated surgeries and radiation.

The discovery, reported in Nature Genetics, is encouraging, because it may be possible to attack the tumors with targeted drugs already in use for other kinds of tumors, said the investigators from Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard.

The mutated gene, known as BRAF, was found in almost all samples of tumors called papillary craniopharyngiomas. This is one of two types of craniopharyngiomasthe other being adamantinomatousthat develop in the base of the brain near the pituitary gland, hypothalamus, and optic nerves. The papillary craniopharyngiomas occur mainly in adults; adamantinomatous tumors generally affect children.

The researchers identified a different mutant gene that drives the tumors in children. Drugs that target these adamantinomatous tumors are not yet clinically available, but may be in the future, said the researchers.

"From a clinical perspective, identifying the BRAF mutation in the papillary tumors is really wonderful, because we have drugs that get into the brain and inhibit this pathway," said Sandro Santagata, MD, PhD, a co-senior author of the paper. "Previously, there were no medical treatmentsonly surgery and radiationand now we may be able to go from this discovery right to a well-established drug therapy." BRAF inhibitors are currently used in treating malignant melanoma when that mutation is present.

Priscilla Brastianos, MD, co-first author of the study, and Santagata said plans are underway to design a multicenter clinical trial to investigate the efficacy of a BRAF inhibitor in patients with papillary craniopharyngiomas.

Craniopharyngiomas occur in less than one in 100,000 people. They are slow-growing tumors that don't metastasize, but they can cause severe complications, including headaches, visual impairment, hormonal imbalances, obesity and short stature. Even with expert neurosurgery, it is difficult to completely remove the tumors without damaging normal structures, and the tumors often recur.

The investigators were surprised to find that the single mutated BRAF gene was the sole driver of 95 percent of the papillary craniopharyngiomas they analyzed with whole-exome DNA sequencing. "We were really surprised to find that something as simple as a BRAF mutation by itself, rather than multiple mutations, is what drives these tumors," said Santagata.

One scenario, should the inhibitors prove successful in halting or reversing growth of the tumors, would be to test the drugs preoperatively with the aim of shrinking the tumor so less radical surgery would be needed, said Santagata.

A different mutation, in a gene called CTNNB1, was identified as the principal abnormality in the pediatric tumors, according to the report. This mutation causes overactivity in the beta-catenin molecular growth-signaling pathway. Unlike with the BRAF mutation, drugs that inhibit the CTNNB1 abnormality have not yet reached the clinic, but several groups are working on them, Santagata said.


'/>"/>

Contact: Irene Sege
irene.sege@childrens.harvard.edu
617-919-3110
Dana-Farber Cancer Institute
Source:Eurekalert  

Related biology news :

1. Will a genetic mutation cause trouble? Ask Spliceman
2. BRG1 mutations confer resistance to hormones in lung cancer
3. Researchers reveal how a single gene mutation leads to uncontrolled obesity
4. Genetic mutation found in familial chronic diarrhea syndrome
5. UGA scientists reveal genetic mutation depicted in van Goghs sunflower paintings
6. Genetic mutation depicted in van Goghs sunflower paintings revealed by scientists
7. Gene mutation identified as contributor to autism spectrum disorders
8. A single stem cell mutation triggers fibroid tumors
9. Common genetic mutation increases sodium retention, blood pressure
10. UC Davis scientists find new role for P53 genetic mutation -- initiation of prostate cancer
11. Gene mutations cause massive brain asymmetry
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Mutation discovery may improve treatment for rare brain tumor type
(Date:3/24/2017)... , Mar 24, 2017 Research and ... Access System Market Analysis & Trends - Industry Forecast to 2025" ... ... to grow at a CAGR of around 15.1% over the next ... This industry report analyzes the market estimates and forecasts for all ...
(Date:3/22/2017)... 21, 2017   Neurotechnology , a provider ... today announced the release of the SentiVeillance ... improved facial recognition using up to 10 surveillance, ... computer. The new version uses deep neural-network-based facial ... it utilizes a Graphing Processing Unit (GPU) for ...
(Date:3/20/2017)... 20, 2017 At this year,s CeBIT Chancellor Dr. ... manufacturer DERMALOG. The Chancellor came to the DERMALOG stand together with the ... year,s CeBIT partner country. At the largest German biometrics company the two ... face and iris recognition as well as DERMALOG´s multi-biometrics system.   ... ...
Breaking Biology News(10 mins):
(Date:6/22/2017)... ... 2017 , ... RMC Pharmaceutical Solutions, Inc. announces the opening ... manage the new site. , Tim has 25 years of pharmaceutical experience, including ... as the Director of Manufacturing and Supplier Quality Assessment. This group is ...
(Date:6/22/2017)... ... June 22, 2017 , ... ... to clients throughout the biopharma and life sciences industries, continue to be in ... seeing. Tunnell’s Kip Wolf will be speaking on “The State of Information Governance ...
(Date:6/20/2017)... ... June 20, 2017 , ... Biologist Dawn Maslar MS has found ... latest book, Men Chase, Women Choose: The Neuroscience of Meeting, Dating, Losing Your Mind, ... effect on men. ”The logical next step, in my estimation, was to scientifically track ...
(Date:6/20/2017)... Francisco, CA (PRWEB) , ... June 20, 2017 ... ... patented technology for discovery of antibody therapeutics from millions-diverse immune repertoires, announces launch ... Conference in San Diego, California. Dave Johnson, PhD, CEO of GigaGen, will present ...
Breaking Biology Technology: