A NOVEL LIKELY PATHOGENIC VARIANT IN THE RUNX1 GENE AS THE CAUSE OF CONGENITAL THROMBOCYTOPENIA
Despotović M1,*, Pereza N2, Peterlin B3, Ostojić S2, Golob B3, Maver A3, Roganović J4
*Corresponding Author: Marta Despotović, University of Rijeka, Faculty of Medicine, Braće Branchetta 20, 51000 Rijeka, Croatia. Tel: +385-91-732-6486. E-mail: despotovicmarta@gmail.com
page: 4

REFERENCES

1. Almazni I, Stapley R, Morgan N, Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding, Front Cardiovasc Med. 2019; 6: 80. 2. Luddy RE, Champion LA, Schwartz AD. A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction. Cancer. 1978; 41: 1959-63. 3. Galera P, Dulau-Florea A, Calvo KR. Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia. Int J Lab Hematol. 2019; 41(Suppl. 1): 131– 141. 4. Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, et al. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 Oct 22; 3(20): 2962-2979. 5. Tsai SC, Shih LY, Liang ST, Huang YJ, Kuo MC, Huang CF, et al. Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. Clin Cancer Res. 2015 Aug 1; 21(15): 3541-51. 6. Harada H, Harada Y, Niimi H, Kyo T, Kimura A, Inaba T. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood. 2004 Mar 15; 103(6): 2316-24. 7. Tang JL, Hou HA, Chen CY, Liu CY, Chou WC, Tseng MH, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009 Dec 17; 114(26): 5352-61. 8. Deuitch N, Broadbridge E, Cunningham L, et al. RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. 2021 Mar 4 [Updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.



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