Abstract Details

Title A Case of Extracranial Metastatic Spread of a PTCH1- and TP53-mutated, Cerebellar Desmoplastic/Nodular Medulloblastoma in a Patient with Li-Fraumeni Syndrome

Topic Neuro-oncology

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-002

Objective NA

Background Six percent of all medulloblastomas are associated with tumor predisposition syndromes and 10% are associated with TP53 mutations, which convey a particularly poor prognosis in addition to a higher risk of secondary malignancies. We present a unique case of an isolated parotid gland extraneural metastasis in a young adult with sonic hedgehog subtype of medulloblastoma (MB_SHH) and Li-Fraumeni Syndrome.

Design/Methods NA

Results A 24-year-old woman with history of ovarian teratoma and fibroma of the femur presented with new daily headaches. MRI of the brain revealed an enhancing left cerebellar mass which was gross totally resected. Pathology revealed desmoplastic/nodular medulloblastoma. Extent of disease evaluation did not show any spinal or leptomeningeal dissemination. She completed craniospinal proton radiation therapy with concurrent weekly vincristine, followed by six cycles of cisplatin/CCNU. Genetic workup identified a TP53 variant of unknown significance, felt to be clinically consistent with Li-Fraumeni syndrome. After four years of surveillance, follow-up MRI brain showed no recurrence of CNS disease but a new 2cm left parotid mass which also showed PET avidity. This was resected, demonstrating a round cell neoplasm with malignant features similar to her previously resected medulloblastoma. Molecular workup on both the original cerebellar tumor and parotid tumor revealed germline PTCH1 and TP53 mutations. She received proton radiation to the left parotid tumor and neck for extraneural relapse of her medulloblastoma with no evidence of disease progression after one year.

Conclusions

Parotid gland extraneural metastasis has not been described in molecularly characterized medulloblastoma. While cancer predisposition syndromes represent a unique challenge to radiation therapy, this case highlights the need for ongoing surveillance for both extraneural metastases from MB_SHH as well as new secondary malignancies associated with Li-Fraumeni syndrome. Molecular subtyping can potentially help stratify the risk of extraneural metastasis and secondary malignancies, thus impacting surveillance strategies in patients with medulloblastoma.

Authors/Disclosures
Mary Jane Lim-Fat, MD, FRCPC PRESENTER	Dr. Lim Fat has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier. Dr. Lim Fat has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novocure. The institution of Dr. Lim Fat has received research support from Brain Cancer Canada.
Ugonma N. Chukwueke, MD (Dana-Farber Cancer Institute)	Dr. Chukwueke has nothing to disclose.
Helen Shih (MGH)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Patrick Y. Wen, MD, FAAN (Dana-Farber/Brigham and Women'S Cancer Center)	Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astra Zeneca . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Black Diamond . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Celularity. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Chimerix. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Day One Bio . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genenta. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Glaxo Smith Kline . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mundipharma. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Nuvation Bio . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novocure. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Prelude Therapeutics . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sagimet. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sapience. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vascular Biogenics . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for VBI Vaccines . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Astra Zeneca . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Black Diamond . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Celularity. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Chimerix. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Day One Bio . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genenta. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Glaxo Smith Kline . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Mundipharma. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Nuvation Bio. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novocure. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Prelude Therapeutics. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sagimet. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sapience. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Servier. Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vascular Biogenics . Dr. Wen has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for VBI Vaccines . Dr. Wen has received research support from Astra Zeneca . Dr. Wen has received research support from Black Diamond . Dr. Wen has received research support from Bristol Meyers Squibb . Dr. Wen has received research support from Celgene. Dr. Wen has received research support from Chimerix. Dr. Wen has received research support from Eli Lily . Dr. Wen has received research support from Erasca. Dr. Wen has received research support from Genentech/Roche . Dr. Wen has received research support from Kazia . Dr. Wen has received research support from MediciNova. Dr. Wen has received research support from Merck. Dr. Wen has received research support from Novartis. Dr. Wen has received research support from Nuvation Bio . Dr. Wen has received research support from Servier. Dr. Wen has received research support from Vascular Biogenics . Dr. Wen has received research support from VBI Vaccines . Dr. Wen has received publishing royalties from a publication relating to health care.

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