Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

ABSTRACT

A 13-year-old child presented with three simultaneous malignancies glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation.