Are the Current Guidelines for Identification of Myelodysplastic Syndrome with Germline Predisposition Strong Enough?

patients (Figure 1B,C). In addition, the lack of knowledge regarding the complete genetic landscape driving germline MDS, and other genetic conditions such as low penetrance or polygenic models for described involved genes, complicates the strong determination and precludes the establishment of concise guidelines for diagnostics of germline predisposition disorders. Finally, somatic and germline variants were identified in different genes but no differences in prognostic or predictive factors were observed between patients carrying such alterations. In summary, genetic testing must be recommended for all MDS patients and variant validation in germline tissue should always be conducted at diagnosis to shed light on variant calling and determination of mutational ontogen-esis. Our results together with other recent observations suggest that boundaries of age and VAF must be revised in order to better standardize guidelines for MDS with germline predisposition.