EPID-09. CMMRD (CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY) ASSOCIATED-BRAIN TUMORS: REPORT FROM THE EUROPEAN C4CMMRD CONSORTIUM

ABSTRACT: Abstract

BACKGROUND

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome (OMIM#276300) due to biallelic germline mutations in MMR genes, leading to a broad spectrum of childhood malignancies including brain, hematologic and colorectal cancers associated with café-au-lait macules (CALM).

METHODS

Malignant brain tumors (BT) were reported in 48/78 patients (10 countries), registered in the C4MMRD database.

RESULTS

Overall, 55 BT (47 high-grade gliomas (HGG) and 8 embryonal tumors) were diagnosed in 48 patients between 1988-2017. Median age at the first BT was 9.1y (1.1-40.6) with 8 patients over 18y. Twenty-eight patients developed multiple malignancies (including 17 before the BT). Twenty/37 families were consanguineo

SUBMITTER: Guerrini-Rousseau L 

PROVIDER: S-EPMC6012064 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature