Individuals with recessive mutations in the mismatch repair geneMSH6 are at an increased risk of developing primary and secondary malignancies. In this article, Scott et al. describe the case of a young girl with constitutional biallelic MSH6 mutations who had developed colonic carcinomas, medulloblastoma and acute myeloid leukemia. The patient underwent allogeneic bone marrow transplantation and panproctocolectomy and was treated with chemotherapy. This report broadens the tumor spectrum associated with biallelic MSH6mutations and discusses the differential diagnosis and implications for treatment in individuals with such mutations.
- Richard H Scott
- Sahar Mansour
- Nazneen Rahman
