IDH1 mutated low grade astrocytoma occurring in MSH2 mutated Lynch syndrome family

Abstract

Lynch syndrome (LS) is an autosomal dominant tumour predisposition syndrome caused by a germline mutation in one of the DNA mismatch repair (MMR) genes.Patients with these mutations have an increased risk of brain tumours, the vast majority of which are glioblastomas and medulloblastomas, and their occurrence has been termed Turcot Syndrome. The case presented herein of a member of a Lynch syndrome family with an MSH2 mutation expands the spectrum of brain tumours occurring in Lynch syndrome to include low grade astrocytomas, and is the first reported case of an IDH1 (R132H) mutated brain tumour occurring in a Lynch syndrome family.

Keywords

• Glioma
• Lynch syndrome
• MSH2 mutation
• Low grade
• mIDH1