Glioblastoma and Colorectal Adenocarcinoma in an Adolescent Girl with Constitutional Mismatch Repair Deficiency syndrome mimicking Neurofibromatosis Type-I

Children with constitutional mismatch repair deficiency syndrome (CMMRDS) are prone to different types of cancers. A 16-year-old girl who was misdiagnosed with neurofibromatosis Type-I (NF-I) for 1 years had experienced glioblastoma and colonic adenocarcinoma. After operation, chemotherapy and radiotherapy were started for adenocarcinoma. Genetic analysis from the patient, effected brother, and mother showed heterozygote (c.479 + 36A> G)...