Abstract Details

Title NF2-Related Schwannomatosis Presenting with Multifocal Ependymoma

Topic Neuro-oncology

Presentation(s) P9 - Poster Session 9 (11:45 AM-12:45 PM)

Poster/Presentation
Number 6-006

Objective To describe a rare case of NF2-related schwannomatosis (NF2-SWN) presenting with multifocal ependymoma without vestibular schwannomas.

Background NF2-SWN is an autosomal dominant disorder driven by mutations in the NF2 gene on chromosome 22q. NF2-SWN is associated with vestibular schwannomas (VS), non-vestibular schwannomas, meningiomas, and ependymomas. Bilateral VS is pathognomonic for the condition. Presentation of NF2-SWN with multifocal ependymoma without VS is rare.

Design/Methods Case report.

Results A 45-year-old female developed back pain and lower extremity numbness. Thoracic spine magnetic resonance imaging (MRI) identified an enhancing expansile intramedullary lesion with associated edema, consistent with ependymoma. MRI of the cervical and lumbar spine identified multiple additional intramedullary avidly enhancing mass lesions. MRI of the brain identified a right frontal parafalcine durally based lesion consistent with meningioma. MRI of the lumbar spine identified a right S1 lesion consistent with schwannoma. Patient underwent T1-T2 laminectomy and biopsy. Pathology was consistent with ependymoma, CNS WHO grade 2. Genetic testing revealed a germline pathogenic NF2 gene variant, c.1123-2A>G. She was treated with 36 Gy in 20 fractions of proton therapy to the entire spinal canal with tumor boosts to 50.4 Gy in 28 fractions. The brain was not treated. Seventeen months after completion of radiation therapy (RT), MRI cervical spine demonstrated tumor progression. Patient was treated with six cycles of temozolomide and lapatinib, achieving stable disease and transitioning back to surveillance.

Conclusions NF2-SWN has variable clinical manifestations and can present with ependymoma in absence of VS. For patients presenting with suspected ependymoma, neuroaxis imaging should be undertaken, which can identify multifocal disease and additional tumors that can help with detection of a tumor predisposing condition. Identification of additional tumor types such as meningiomas should prompt genetic testing, which can establish diagnosis of NF2-SWN. For ependymomas demonstrating progression following RT, temozolomide and lapatinib represents a systemic treatment option.

Authors/Disclosures
Ganiru Mathis, MD PRESENTER	Dr. Mathis has nothing to disclose.
William Breen, MD	Dr. Breen has nothing to disclose.
Michelle Clarke, MD	Dr. Clarke has nothing to disclose.
Jorge Trejo-Lopez	Jorge Trejo-Lopez has nothing to disclose.
Dusica babovic-vuksanovic, MD	Dr. babovic-vuksanovic has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AstraZeneca/Alexion. Dr. babovic-vuksanovic has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SpringWorks. Dr. babovic-vuksanovic has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. The institution of Dr. babovic-vuksanovic has received research support from SprinWorks. Dr. babovic-vuksanovic has received publishing royalties from a publication relating to health care. Dr. babovic-vuksanovic has received personal compensation in the range of $500-$4,999 for serving as a USMLE items review with NBME.
Timothy J. Kaufmann, MD	Dr. Kaufmann has stock in SpineThera.
Ugur Sener, MD	Dr. Sener has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier Pharmaceuticals. Dr. Sener has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Sener has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion.

��ɫ��

��ɫ��