96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report

Aly Abdelkareem

Keela Scott

Dr. Keela Scott was born and raised in Kansas City, Missouri. She started her journey into the academic world as a collegiate softball player and decided to pursue a career in medicine. She completed her undergraduate education at the University of Missouri-Kansas City with a degree in Chemistry and then attended the University of Missouri School of Medicine. In her free time, she can either be found somewhere hiking with her yellow Labrador Retriever, Luna, or doing some CrossFit training.


Keela Scotta, Melissa Generb, Elena Repnikovab

aUniversity of Missouri-Columbia, Columbia, MO, United States; bChildren’s Mercy Hospital, UMKC Medical School, Kansas City, MO, United States

Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20 to 40 years of age. The current WHO Classification System for ependymomas is now comprised of 10 different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes. We present the case of a 16-year-old female with a history of neurofibromatosis type 2 with multiple schwannomas, meningioma, and spinal ependymoma.

Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,+7,-22+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis from the FFPE tumor sample confirmed +7, -22, and clarified that the marker chromosome represents a chromothripsis of the entire chromosome 6, involving >100 breakpoints. Microarray showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (CNS WHO grade 2) with no MYCN amplification. Monosomy or LOH of 22, gain of 7, and loss of 6/6q have been reported in spinal ependymomas. While monosomy 22 has a higher incidence in adult patients, only ~30% of pediatric ependymomas display this finding. In addition, our patient’s tumor has chromothripsis of the entire chromosome 6, which to our knowledge was previously unreported in spinal ependymomas. Cytogenetic abnormalities found in our patient’s tumor may play an important role in the pathogenesis and early onset of the spinal ependymoma in our patient.