Dr. Alexandra Giantini Larsen, a fifth-year resident in neurosurgery, was recently awarded first place at the New York Society of Neurosurgery Resident Research Night for her work on liquid biopsies for brainstem gliomas. Dr. Larsen placed first of the eight presentations by neurosurgical residents from New York area training programs. Her research, a collaborative project with Memorial Sloan Kettering (MSK), found that liquid biopsies performed on cerebrospinal fluid (CSF) are useful for diagnosing and evaluating brainstem tumors.
Tumors of the brainstem have been difficult to study, since their location has made surgical tissue biopsies complicated or impossible to perform. Rather than intruding into the sensitive brainstem for a tissue sample, researchers can now use innovative “liquid biopsies” to look at body fluids for the small fragments of circulating tumor DNA (ctDNA) that tumors shed. Researchers have found CSF, which circulates throughout the brain and spine, to be ideal for identifying tumor cells; these procedures allow for an accurate diagnosis and provide ongoing information about the tumor as it evolves over time.
The abstract of “Non-invasive diagnosis of brainstem gliomas in pediatric, adolescent, and young adult patients through cerebrospinal fluid cell-free DNA sequencing” was published in a June 2023 supplement to the journal Neuro-Oncology. In addition to Dr. Mark Souweidane and Dr. Jeffrey Greenfield of Weill Cornell, who were co-authors on the abstract, Dr. Larsen worked with MSK faculty Dr. Alexandra Miller of neurology and Dr. Matthias Karajannis of pediatric neuro-oncology, along with co-first author Katie Hill, senior project for the liquid biopsy program at MSK, and others. The team set out to show whether a liquid biopsy of CSF could provide accurate diagnosis and tracking of brainstem gliomas using molecular analysis of cell-free DNA (cfDNA). Studying 46 CSF samples from 39 patients, the team found that these liquid biopsies are able to confirm an established tissue diagnosis; provide an initial diagnosis when a tissue biopsy is not possible; and reveal important genetic information about a tumor.
The New York Society of Neurosurgery is an organization that supports the field of neurosurgery in the New York metropolitan area. The annual Resident Research Night features presentations of basic and clinical research by neurosurgery residents to a panel of senior neurosurgeons.