Germline mutations in MDS/AML predisposition disorders

Purpose of review Recognition of hereditary hematopoietic malignancies impacts patient management as well as health surveillance strategies for the patient and relatives who share the causative DNA variant. In this review, barriers to the diagnosis and management of patients are outlined. Recent findings Increasingly, individuals are being recognized as having germline predisposition to hematopoietic malignancies. Clinical testing for these syndromes is difficult for most clinicians given the need to send true germline samples and the lack of standardization in the field with regard to which genes are covered and the types of DNA changes detected. Additional barriers such as insurance coverage, especially for older individuals, and access to clinical experts need to be overcome in the future. Summary New research addressing whether use of hematopoietic stem cells with deleterious variants are permissive to transplantation; effective means of delivering genetic counseling and results disclosure to decrease the psychological impact of these diagnoses; and a comprehensive list of all predisposition genes will advance our ability to provide the best treatment possible for our patients and facilitate strategies to maintain excellent health throughout their lifetimes and for members of younger generations. Video abstract Submitted, http://links.lww.com/COH/A22

Automated summary

This review highlights the importance of recognizing hereditary hematopoietic malignancies in patient management and health surveillance strategies for relatives. It identifies current barriers to diagnosis and management, and suggests the need to overcome obstacles such as clinical testing difficulties, insurance coverage, and access to experts in the field. It also points out the importance of new research in improving treatment and maintaining excellent health for patients with predisposition genes.