The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome.

Objective: To assess the effect of belzutifan, a first-in-class oral hypoxia-inducible factor 2α inhibitor, on retinal hemangioblastoma (RH) outcomes.

Subjects/methods: This is a single-centre retrospective cohort study of patients with confirmed von Hippel-Lindau syndrome (VHLS) and RH. Subjects were taking oral belzutifan for renal cell carcinoma, central nervous system hemangioblastoma, or pancreatic neuroendocrine tumours.

Canadian consensus for the assessment and testing of Lynch syndrome.

Background: Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome caused by a germline pathogenic variant, or epigenetic silencing, of a mismatch repair (MMR) gene, leading to a wide cancer spectrum with gene-specific penetrance. Ascertainment, assessment and testing of LS individuals is complex. A Canadian national guideline is needed to ensure equitable access to patient care across the country.

Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers.

Introduction: Uninformative germline genetic testing presents a challenge to clinical management for patients suspected to have Lynch syndrome, a cancer predisposition syndrome caused by germline variants in the mismatch repair (MMR) genes or EPCAM.

Methods: Among a consecutive series of MMR-deficient Lynch syndrome spectrum cancers identified through immunohistochemistry-based tumor screening, we investigated the clinical utility of tumor sequencing for the molecular diagnosis and management of suspected Lynch syndrome families. MLH1-deficient colorectal cancers were prescreened for BRAF V600E before referral for genetic counseling.