SUMMARY
The awareness of potential germline predisposition in patients with acute myeloid leukaemia (AML) has increased in the years since NGS testing with large gene panels became standard of care. Yet, it must be noted that still little is known regarding incidences in the Belgian population and specific guidelines for clinical practice are lacking. This narrative review attempts to provide an overview of the most common germline variants in the context of AML, optimal diagnostic approaches, and the impact on the patient and family. In a retrospective study of a cohort of 241 AML-patients, we describe the current situation at Ghent University Hospital. Using the available NGS panels, we identified twelve patients with germline pathogenic variants: 5.0% of the total cohort, 34.3% of the patients that were referred for germline testing. It must be realized that the NGS panels expanded during the study period, and probably will expand further in the future: the amount of germline pathogenic variants will likely be higher. This demonstrates the importance of awareness for underlying germline predisposition, and the implications for the patient, their family, as well as during donor search in case of allogenic stem cell transplantation.
(BELG J HEMATOL 2024;15(4):135–46)
