Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.

ABSTRACT:

Background/aim

Germline mutations in PTCH1 or SUFU in the sonic hedgehog (SHH) pathway cause Gorlin's syndrome with increased risk of developing SHH-subgroup medulloblastoma. Gorlin's syndrome precludes the use of radiotherapy (a standard component of treatment) due to the development of multiple basal cell carcinomas. Also, current SHH inhibitors are ineffective against SUFU-mutated medulloblastoma, as they inhibit upstream genes. In this study, we aimed to detect differences in the expression of genes and microRNAs between SUFU- and PTCH1-mutated SHH medulloblastomas which may hint at new treatment directions.

Patients and methods

We sequenced RNA and microRNA from tumors of two patients with germline Gorlin's syndrome - one having PTCH1 mutation and one with SUFU mutation

SUBMITTER: Gershanov S 

PROVIDER: S-EPMC8126327 | biostudies-literature | 2021 May-Jun

REPOSITORIES: biostudies-literature