Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

ABSTRACT:

Background

Malignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in mismatch repair genes. This study analyzed data from the European "Care for CMMRD" (C4CMMRD) database to describe their clinical characteristics, treatments, and outcome with the aim of improving its diagnosis/treatment.

Methods

Retrospective analysis of data on patients with CMMRD and malignant BT from the C4CMMRD database up to July 2017.

Results

Among the 87 registered patients, 49 developed 56 malignant BTs: 50 high-grade gliomas (HGG) (with giant multinucleated cells in 16/21 histologically reviewed tumors) and 6 embryonal tumor

SUBMITTER: Guerrini-Rousseau L 

PROVIDER: S-EPMC7212899 | biostudies-literature | 2019 May-Dec

REPOSITORIES: biostudies-literature