Newswise — Winner of the American Brain Tumor Association Young Investigator Award, Anthony C. Wang, MD, a neurosurgeon at UCLA Mattel Children’s Hospital and the David Geffen School of Medicine at UCLA, presented research findings in a talk entitled Desmoplastic Infantile Ganglioglioma/Astrocytoma, during the 2017 American Association of Neurological Surgeons (AANS) Annual Scientific Meeting. His research was made possible through a multi-national collaboration between researchers and physicians in Seattle, Toronto and Heidelberg.
The World Health Organization (WHO) classifies desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) together among benign Grade I brain tumors. Typically found in young children, these rare entities have an excellent prognosis when completely removed through surgery.
Dr. Wang and his research collaborators aimed to understand genetic underpinnings of DIG/DIA and their natural histories. Advanced DNA sequencing techniques (UW-OncoPlex) and DNA methylation profiling were performed on specimens obtained from 16 patients diagnosed with DIG/DIA. The team also performed an exhaustive individual patient data meta-analysis of previously-reported cases of DIG/DIA.
Among the 16 original tumor samples, the authors unexpectedly identified a subset of DIG/DIAs harboring BRAF mutations with approximately a 48.3 percent frequency. While a specific type of BRAF alteration, the BRAFV600D mutation, has, to this point, proven exceedingly rare, their study revealed three among 16 total DIG/DIAs. No other oncogenic mutation has been consistently identified in DIG/DIAs.
The authors also identified incomplete resection, DIA pathology, multi-focal disease at presentation and malignant transformation as independent predictors of poor outcome in DIG/DIA patients. Malignant transformation was identified in 33.3 percent of patients, much higher than previously recognized, and the interval development of new mutations drove these cases of malignant transformation.
Maximal safe resection remains the mainstay of treatment for these tumors. However, Dr. Wang and his colleagues highlight the need to test all DIG/DIA for BRAF and other gene mutations, which might uncover alternative treatment options, such as BRAF inhibitors in cases where the tumor is unable to be completely removed.
Author Block: David Jones; Josh Abecassis; Shelly Wang; Bonnie Cole; Sarah Leary; Tina Lockwood; Jim Olson; Russ Geyer; Eric Holland; David Capper; Rich Ellenbogen; and Jeff Ojemann
Disclosure: The author reported no conflicts of interest.
Media Representatives: The 2017 AANS Annual Scientific Meeting press section will include releases on highlighted scientific research, AANS officers and award winners, Neurosurgery Awareness Month and other relevant information about the 2017 program. Releases will be posted under the “Media” area on the 2017 AANS Annual Scientific Meeting website. If you have interest in a topic related to neurosurgery or would like to interview a neurosurgeon — either onsite or via telephone — during the event, please contact Alice Kelsey, AANS associate executive director, via email at [email protected].
About the 2017 AANS Annual Scientific Meeting: Attended by neurosurgeons, neurosurgical residents, medical students, neuroscience nurses, clinical specialists, physician assistants, allied health professionals and other medical professionals, the AANS Annual Scientific Meeting is the largest gathering of neurosurgeons in the nation, with an emphasis on the field’s latest research and technological advances. The scientific presentations accepted for the 2017 event will represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Find additional information about the 2017 AANS Annual Scientific Meeting and the meeting program here.
Founded in 1931 as the Harvey Cushing Society, the American Association of Neurological Surgeons (AANS) is a scientific and educational association with more than 10,000 members worldwide. The AANS is dedicated to advancing the specialty of neurological surgery in order to provide the highest quality of neurosurgical care to the public. Fellows of the AANS are board-certified by the American Board of Neurological Surgery, the Royal College of Physicians and Surgeons of Canada or the Mexican Council of Neurological Surgery, A.C. Neurosurgery is the medical specialty concerned with the prevention, diagnosis, treatment and rehabilitation of disorders that affect the spinal column, spinal cord, brain, nervous system and peripheral nerves.
For more information, visit www.AANS.org.
RSS