Clinical and molecular analysis of smoothened inhibitors in Sonic Hedgehog medulloblastoma.

ABSTRACT:

Background

Smoothened inhibitors (SMOi) have shown activity in Sonic Hedgehog (SHH) medulloblastoma, however this therapeutic class was not developed in children due to severe effects reported on growth. We hereby report long-term follow-up of young patients treated with SMOi for recurrent medulloblastoma.

Methods

Clinical data on response and toxicity from patients treated with vismodegib or sonidegib from 2011 to 2019 for a SHH medulloblastoma were retrospectively reviewed. Methylation analysis and whole exome sequencing were performed whenever possible.

Results

All patients with a somatic PTCH1 mutation responded to SMOi (6/8), including 2 prolonged complete responses. One patient was free of disease 8.2 years after treatment. SMOi was challenged again for 3

SUBMITTER: Pereira V 

PROVIDER: S-EPMC8367281 | biostudies-literature | 2021 Jan-Dec

REPOSITORIES: biostudies-literature