Liquid Biopsy for Detection of Histone H3 Mutations in Pediatric Diffuse Midline Gliomas

A presentation at the 2019 American Association of Neurological Surgeons Annual Scientific Meeting


Newswise — SAN DIEGO (April 17, 2019) — Winner of the Columbia Softball Pediatric Award, Amanda Muhs Saratsis, MD, presented her research, Liquid Biopsy for Detection of Histone H3 Mutations in Pediatric Diffuse Midline Gliomas, during the 2019 American Association of Neurological Surgeons (AANS) Annual Scientific Meeting.

Pediatric diffuse midline glioma (DMG) is a highly morbid tumor not amenable to surgical resection. Mutations in histone H3 encoding genes occur in 80% of cases and portend a worse clinical prognosis. Dr. Saratsis was the first to detect H3 mutations in circulating tumor DNA (ctDNA) in cerebrospinal fluid (CSF) derived from children with DMG and high grade glioma. This project describes a collaborative effort to develop a more sensitive and specific approach for H3 mutation detection and quantification in plasma and CSF with low starting [ctDNA], with validation performed across multiple centers.

The study demonstrates the utility of liquid biopsy for identifying H3K27M mutations in plasma and CSF with low starting [DNA], representing a rapid, minimally invasive method for diagnosis and therapeutic monitoring of pediatric brain tumors. Currently underway is a study of ddPCR of additional pediatric glioma liquid biopsy specimens.

Author Block: Amanda Muhs Saratsis, MD (Chicago); Erin Bonner, BS; Eshini Panditharatna, PhD; Daphne Li, MD; Julia Pantalone, BA; Tina Huang, MS; Rishi Lulla; Carl Koschmann, MD; Javad Nazarian, PhD; Amanda Saratsis, MD

Disclosure: The author reported no conflicts of interest.

Media Representatives: The 2019 AANS Annual Scientific Meeting website’s press section includes releases on highlighted scientific research, AANS officers and award winners and other relevant information about the 2019 program. Releases will be posted on the 2019 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 or after the event, please contact Alice Kelsey, AANS associate executive director, via email at aik@aans.org.

About the 2019 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 2019 event will represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Find additional information about the 2019 AANS Annual Scientific Meeting and the meeting program here.

About the AANS
Founded in 1931 as the Harvey Cushing Society, the American Association of Neurological Surgeons (AANS) is a scientific and educational association with more than 11,500 members worldwide. The AANS promotes the highest quality of patient care and advances the specialty of neurological surgery. 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.

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