A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome, including ovarian, gastric, small bowel, hepatobiliary, renal, ureteral, skin, breast, prostate, and pancreatic cancers. Brain tumors are infrequent, but have been reported in series [1]. Individuals who have biallelic Lynch syndrome mutations in MLH1, MSH-2, MSH-6, or PMS-2 have a childhood-onset disorder now referred to as constitutional mismatch repair deficiency syndrome, in which high-grade gliomas constitute approximately 25% of all malignancies [2].
Source: Clinical Neurology and Neurosurgery - Category: Neurosurgery Authors: Tags: Case Report Source Type: research