How to manage patients with germline variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.

Increasing recognition of germline variants in patients with hematological malignancies prompted us to provide -specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the predispose to the development of myeloid neoplasms (MNs), especially myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Almost 3%-5% of all patients with MDS or AML carry a pathogenic or likely pathogenic germline variant, while half of them acquire a somatic second hit in the other allele. -associated MNs exhibit unique clinical characteristics compared to other hematological malignancies with germline predisposition: MNs occur mostly at advanced age and follow an indolent clinical course. Male carriers are more prone to develop MDS or AML than females. -associated MN is often hypoplastic, and the malignancy may be preceded by cytopenias.