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:2/7/2017)...   MedNet Solutions , an innovative SaaS-based eClinical ... research, is pleased to announce that the latest release ... flexible and award winning eClinical solution, is now available ... is a proven Software-as-a-Service (SaaS) clinical research technology platform ... also delivers an entire suite of eClinical tools to ...
(Date:2/6/2017)... -- According to Acuity Market Intelligence, ongoing concerns ... continue to embrace biometric and digital identification based ... Control (ABC) eGates and 1436 Automated Passport Control ... ports of entry across the globe. Deployments increased ... CAGR of 37%. APC Kiosks reached 75% growth ...
(Date:2/2/2017)... Fla. , Feb. 2, 2017   ... a clinical-stage immuno-oncology company specializing in the development ... for the treatment of cancer and metastatic disease, ... scale-up and GMP manufacturing of a second clinical ... vaccine targeting folate receptor alpha. The manufactured vaccine ...
Breaking Biology News(10 mins):
(Date:2/21/2017)... , ... February 21, 2017 , ... ... transformative design and manufacturing solutions for original equipment manufacturers (OEMs) , today announced ... marks Creation Technologies’ third consecutive year winning in its category of electronics manufacturing ...
(Date:2/21/2017)... 2017 Scientists From Two Companies ... Plastic Industry  ... STEER, creator of advanced materials platform ... fields of plastics, pharmaceuticals, food and nutraceuticals, biomaterials and biorefining, ... science & technology company, on creating co-rotating twin screw ...
(Date:2/20/2017)... BIOA ) announced today that Jean-Francois Huc ... COO, has been named President, effective immediately.  In ... overseen the construction, start-up and operation of the manufacturing plant in ... JV.  Fabrice has also been extensively involved in the negotiations with ... ...
(Date:2/20/2017)... ... February 20, 2017 , ... Cancer ... “Crosswalk Insight: Oncology™” (Crosswalk), a unique precision medicine knowledge visualization and decision support ... accessed through Inspirata’s diagnostic cockpit and is downloadable as an app for any ...
Breaking Biology Technology: