Clinical Management Guidelines for RUNX1 Genetic Variants

This guide outlines clinical management guidelines specifically for patients with a positive test result for pathogenic or likely pathogenic variants in the RUNX1 gene. It references the Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults, emphasizing that U.S. consensus practice guidelines are not yet available. The document details the importance of clinical correlation with the patient's medical history and suggests that management decisions may vary based on individual circumstances. It includes recommendations for genetic testing, monitoring for myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), and the potential for allogenic hematopoietic stem cell transplant (allo-HSCT). The guide also discusses the implications of RUNX1 variants for family members, highlighting the need for genetic counseling and testing. Overall, it serves as a resource for healthcare providers to assist in the management and surveillance of patients with RUNX1-related conditions.