Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.

Article  CAS  PubMed  Google Scholar 

Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes Familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166–75.

Article  CAS  PubMed  Google Scholar 

Palma-Barqueros V, Revilla N, Sánchez A, et al. Inherited platelet disorders: an updated overview. Int J Mol Sci. 2021;22:4521.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Warren JT, Di Paola J. Genetics of inherited thrombocytopenias. Blood. 2022;139:3264–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cunningham L, Merguerian M, Calvo KR, et al. Natural history study of patients with Familial platelet disorder with associated myeloid malignancy. Blood. 2023;142:2146–58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Homan CC, Scott HS, Brown AL. Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26. Blood. J the. 2023;141:1533–43.

CAS  Google Scholar 

Deuitch N, Broadbridge E, Cunningham L, Liu P. (2021) RUNX1 familial platelet disorder with associated myeloid malignancies. GeneReviews®.

Brown AL, Arts P, Carmichael CL, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv. 2020;4:1131–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yu K, Deuitch N, Merguerian M, et al. Genomic landscape of patients with germline RUNX1 variants and Familial platelet disorder with myeloid malignancy. Blood Adv. 2024;8:497–511.

Article  CAS  PubMed  Google Scholar 

Matheny CJ, Speck ME, Cushing PR, et al. Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J. 2007;26:1163–75.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Michaud J, Wu F, Osato M, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant Familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99:1364–72.

Article  CAS  PubMed  Google Scholar 

Cai X, Gao L, Teng L, Ge J, Oo ZM, Kumar AR, Gilliland DG, Mason PJ, Tan K, Speck NA. Runx1 deficiency decreases ribosome biogenesis and confers stress resistance to hematopoietic stem and progenitor cells. Cell Stem Cell. 2015;17:165–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wu D, Ozaki T, Yoshihara Y, Kubo N, Nakagawara A. Runt-related transcription factor 1 (RUNX1) stimulates tumor suppressor p53 protein in response to DNA damage through complex formation and acetylation. J Biol Chem. 2013;288:1353–64.

Article  CAS  PubMed  Google Scholar 

Suzuki T, Shimizu Y, Furuhata E, Maeda S, Kishima M, Nishimura H, Enomoto S, Hayashizaki Y, Suzuki H. RUNX1 regulates site specificity of DNA demethylation by recruitment of DNA demethylation machineries in hematopoietic cells. Blood Adv. 2017;1:1699–711.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feurstein S, Luo X, Shah M, Walker T, Mehta N, Wu D, Godley LA. Revision of RUNX1 variant curation rules. Blood Adv. 2022;6:4726–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Homan CC, King-Smith SL, Lawrence DM, et al. The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for Familial platelet disorder with myeloid malignancy. Haematologica. 2021;106:3004–7.

Article  PubMed  PubMed Central  Google Scholar 

Luo X, Feurstein S, Mohan S, et al. ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants. Blood Adv. 2019;3:2962–79.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Homan CC, Drazer MW, Yu K, et al. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Adv. 2023. https://doi.org/10.1182/bloodadvances.2023010045.

Article  PubMed  PubMed Central  Google Scholar 

Maese LD, Wlodarski MW, Kim SY, et al. Update on recommendations for surveillance for children with predisposition to hematopoietic malignancy. Clin Cancer Res. 2024;30:4286–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Trottier AM, Cunningham L, Godley LA. Hereditary hematopoietic malignancies: considerations for optimizing diagnosis and management. Curr Oncol Rep. 2025;27:1019–30.

Article  PubMed  PubMed Central  Google Scholar 

Clark A, Thomas S, Hamblin A, Talley P, Kulasekararaj A, Grinfeld J, Speight B, Snape K, McVeigh TP, Snowden JA. Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: best practice consensus guidelines from the UK cancer genetics group (UKCGG), CanGene-CanVar, NHS England genomic laboratory hub (GLH) haematological malignancies working group and the British society of blood and marrow transplantation and cellular therapy (BSBMTCT). Br J Haematol. 2023;201:35–44.

Article  PubMed  Google Scholar 

Ahmad MH, Hegde M, Wong WJ, et al. Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice. Blood Adv. 2023;7:7304–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bellissimo DC, Chen C-H, Zhu Q, et al. Runx1 negatively regulates inflammatory cytokine production by neutrophils in response to Toll-like receptor signaling. Blood Adv. 2020;4:1145–58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mohammadhosseini M, Enright T, Duvall A, Chitsazan A, Lin H-Y, Ors A. (2025) Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis in RUNX1-familial platelet disorder. Sci Transl Med. 17;(780):eadn9832.

Fan AC, Nakauchi Y, Bai L, et al. RUNX1 loss renders hematopoietic and leukemic cells dependent on IL-3 and sensitive to JAK Inhibition. J Clin Invest. 2023. https://doi.org/10.1172/JCI167053.

Article  PubMed  PubMed Central  Google Scholar 

Iu H, Cui Y, Wang G-F, Dong Q, Yao Y, Li P. The nonreceptor tyrosine kinase c-Abl phosphorylates Runx1 and regulates Runx1-mediated megakaryocyte maturation. Biochimica et biophysica acta (BBA) -. Mol Cell Res. 2018;1865:1060–72.

Google Scholar 

Nagar B, Bornmann WG, Pellicena P, Schindler T, Veach DR, Miller WT. Crystal structures of the kinase domain of c-Abl in complex with the small molecule inhibitors PD173955 and Imatinib (STI-571)1. Cancer Res. 2002;62:4236–43.

CAS  PubMed  Google Scholar 

Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with PEBP2β protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J. 2001.

Goyama S, Huang G, Kurokawa M, Mulloy JC. Posttranslational modifications of RUNX1 as potential anticancer targets. Oncogene. 2015;34:3483–92.

Article  CAS  PubMed  Google Scholar 

Krutein MC, Hart MR, Anderson DJ, et al. Restoring RUNX1 deficiency in RUNX1 Familial platelet disorder by inhibiting its degradation. Blood Adv. 2021;5:687–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yonezawa T, Takahashi H, Shikata S, Sawasaki T, Kitamura T, Goyama S. The ubiquitin ligase RNF38 promotes RUNX1 ubiquitination and enhances RUNX1-mediated suppression of erythroid transcription program. Biochem Biophys Res Commun. 2018;505:905–9.

Article  CAS  PubMed  Google Scholar 

Frangoul H, Locatelli F, Sharma A, et al. Exagamglogene autotemcel for severe sickle cell disease. N Engl J Med. 2024;390:1649–62.

Article