There has been sufficient amount of evidence published associating the RUNX1 gene with familial platelet disorder with associated myeloid malignancy (FPDMM) since the gene-disease relationship was first proposed by Song et al. (1999). Plenty of case level studies have been performed with FPDMM patients that have variants in the RUNX1 gene. RUNX1 has a primary role in the development of all hematopoietic cell types and RUNX1 is shown to express in hematopoietic lineages and peripheral lymphocytes. CBFB, the beta subunit forming the same transcriptional complex, is also associated with somatic acute myeloid leukemia. Megakaryocyte colony formation decreased in patient cells and targeted correction of RUNX1 rescue megakaryopoietic defects. Thrombocytopenia and megakaryocytic maturation arrest are reported in induced RUNX1 knockout mice. All of these evidences suggest a definitive relationship between the RUNX1 gene and familial platelet disorder with associated myeloid malignancy (FPDMM).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.