Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

ABSTRACT:

Background

Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MB_SHH , MB_WNT , MB_{Group 3} , and MB_{Group 4} , representing the second most common type of pediatric brain cancer after high-grade gliomas. They suffer from a high prevalence of genetic predisposition with up to 20% of MB_SHH caused by germline mutations in only six genes. However, the spectrum of germline mutations in MB_SHH remains incomplete.

Methods

Comprehensive Next-Generation Sequencing panels of both tumor and patient blood samples were performed as molecular genetic characterization. The panels cover genes that are known to predispose to cancer.

Results

Here, we report on a pat

SUBMITTER: Tolonen JP 

PROVIDER: S-EPMC7507464 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature