Page 44 - Haematologica April 2020

D. Wu et al.
ant interpretation. Hum Mutat. 2018;39 References (11):1614-1622.
sion program during megakaryocytic differ-
entiation. Blood. 2015;125(23):3570-3579. 35. Li Y, Jin C, Bai H, et al. Human NOTCH4 is a key target of RUNX1 in megakaryocytic
differentiation. Blood. 2018;131(2):191-201. 36. Bellissimo DC, Speck NA. RUNX1 Mutations in inherited and sporadic
leukemia. Front Cell Dev Biol. 2017;5:111. 37. Gaidzik VI, Bullinger L, Schlenk RF, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol. 2011;29(10):1364-
1372.
38. Tang JL, Hou HA, Chen CY, et al.
AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and inter- action with other gene alterations. Blood. 2009;114(26):5352-5361.
39. Bean LJH, Hegde MR. Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clini- cal variant interpretation guidelines. Genome Med. 2017;9(1):111.
40. Ghosh R, Oak N, Plon SE. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017;18(1):225.
41. Ioannidis NM, Rothstein JH, Pejaver V, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877-885.
42. Zhao LJ, Wang YY, Li G, et al. Functional features of RUNX1 mutants in acute trans- formation of chronic myeloid leukemia and their contribution to inducing murine full- blown leukemia. Blood. 2012;119(12):2873- 2882.
43. Tsai SC, Shih LY, Liang ST, et al. Biological activities of RUNX1 mutants predict sec- ondary acute leukemia transformation from chronic myelomonocytic leukemia and myelodysplastic syndromes. Clin Cancer Res. 2015;21(15):3541-3551.
44. Osato M, Asou N, Abdalla E, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. Blood. 1999;93(6):1817-1824.
45. Taketani T, Taki T, Takita J, et al. Mutation of the AML1/RUNX1 gene in a transient myeloproliferative disorder patient with Down syndrome. Leukemia. 2002;16(9): 1866-1867.
46. Koh CP, Wang CQ, Ng CE, et al. RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. Leukemia. 2013;27(9):1793-1802.
47. Mersch J, Brown N, Pirzadeh-Miller S, et al. Prevalence of variant reclassification follow- ing hereditary cancer genetic testing. JAMA. 2018;320(12):1266-1274.
48. Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN. The effects of genomic germline variant reclassification on clinical cancer care. Oncotarget. 2019;10(4):417-423.
49. 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: implica- tions for mechanisms of pathogenesis. Blood. 2002;99(4):1364-1372.
50. Yeo G, Burge CB. Maximum entropy mod- eling of short sequence motifs with applica- tions to RNA splicing signals. J Comput Biol. 2004;11(2-3):377-394.
51. Desmet FO, Hamroun D, Lalande M, et al. Human Splicing Finder: an online bioinfor- matics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67.
1. Drazer MW, Kadri S, Sukhanova M, et al. Prognostic tumor sequencing panels fre- quently identify germ line variants associat- ed with hereditary hematopoietic malignan- cies. Blood Adv. 2018;2(2):146-150.
2. Churpek JE, Pyrtel K, Kanchi KL, et al. Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood. 2015;126(22): 2484-2490.
3. Churpek JE, Bresnick EH. Transcription fac- tor mutations as a cause of familial myeloid neoplasms. J Clin Invest. 2019;129(2):476- 488.
4. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neo- plasms and acute leukemia. Blood. 2016;127 (20):2391-2405.
5. Swerdlow SH CE, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 2017.
6. KohaneIS,MasysDR,AltmanRB.Theinci- dentalome: a threat to genomic medicine. JAMA. 2006;296(2):212-215.
7. Shirts BH, Pritchard CC, Walsh T. Family- specific variants and the limits of human genetics. Trends Mol Med. 2016;22(11):925- 934.
8. Beri-Dexheimer M, Latger-Cannard V, Philippe C, et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet. 2008;16(8):1014-1018.
9. Schlegelberger B, Heller PG. RUNX1 defi- ciency (familial platelet disorder with predis- position to myeloid leukemia, FPDMM). Semin Hematol. 2017;54(2):75-80.
10. SoodR,KamikuboY,P.L.RoleofRUNX1in hematological malignancies. Blood. 2017;129(15):2070-2082. Erratum in: Blood. 2018;131 (3):373.
11. 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(2):166-175.
12. Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phe- notype. Nucleic Acids Res. 2014;42 (Database issue):D980-985.
13. Rehm HL, Berg JS, Brooks LD, et al. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015;372(23):2235-2242.
14. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recom- mendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
15. Tavtigian SV, Greenblatt MS, Harrison SM, et al. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classi- fication framework. Genet Med. 2018;20(9): 1054-1060.
16. Brnich SE, Rivera-Munoz EA, Berg JS. Quantifying the potential of functional evi- dence to reclassify variants of uncertain sig- nificance in the categorical and Bayesian interpretation frameworks. Hum Mutat. 2018;39(11):1531-1541.
17. Rivera-Munoz EA, Milko LV, Harrison SM, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence vari-
18. Luo X, Feurstein S, Mohan S, et al. Gene- specific criteria for germline RUNX1 variant curation: recommendations from the ClinGen Myeloid Malignancy Variant Curation Expert Panel. Blood Adv. 2019;3 (20):2962-2979.
19. Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 muta- tions causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112(12):4639-4645.
20. Shiba N, Hasegawa D, Park MJ, et al. CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet dis- order with propensity to develop acute myeloid leukemia (FPD/AML). Blood. 2012;119(11):2612-2614.
21. Linden T, Schnittger S, Groll AH, Juergens H, Rossig C. Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation. Br J Haematol. 2010;151(5):528-530.
22. Toya T, Yoshimi A, Morioka T, et al. Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia. Platelets. 2014;25(4):300-302.
23. Nickels EM, Soodalter J, Churpek JE, Godley LA. Recognizing familial myeloid leukemia in adults. Ther Adv Hematol. 2013;4(4):254- 269.
24. Latger-Cannard V, Philippe C, Bouquet A, et al. Haematological spectrum and genotype- phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disor- ders. Orphanet J Rare Dis. 2016;11:49.
25. Challen GA, Goodell MA. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol. 2010;38(5):403-416.
26. Komeno Y, Yan M, Matsuura S, et al. Runx1 exon 6-related alternative splicing isoforms differentially regulate hematopoiesis in mice. Blood. 2014;123(24):3760-3769.
27. Brady G, Elgueta Karstegl C, Farrell PJ. Novel function of the unique N-terminal region of RUNX1c in B cell growth regulation. Nucleic Acids Res. 2013;41(3):1555-1568.
28. Lacaud G, Gore L, Kennedy M, et al. Runx1 is essential for hematopoietic commitment at the hemangioblast stage of development in vitro. Blood. 2002;100(2):458-466.
29. Navarro-Montero O, Ayllon V, Lamolda M, et al. RUNX1c regulates hematopoietic dif- ferentiation of human pluripotent stem cells possibly in cooperation with proinflamma- tory signaling. Stem Cells. 2017;35(11):2253- 2266.
30. Lorsbach RB, Moore J, Ang SO, et al. Role of RUNX1 in adult hematopoiesis: analysis of RUNX1-IRES-GFP knock-in mice reveals differential lineage expression. Blood. 2004;103(7):2522-2529.
31. Tsuzuki S, Hong D, Gupta R, et al. Isoform- specific potentiation of stem and progenitor cell engraftment by AML1/RUNX1. PLoS Med. 2007;4(5):e172.
32. Tsuzuki S, Seto M. Expansion of functional- ly defined mouse hematopoietic stem and progenitor cells by a short isoform of RUNX1/AML1. Blood. 2012;119(3):727-735.
33. Elagib KE, Racke FK, Mogass M, et al. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentia- tion. Blood. 2003;101(11):4333-4341.
34. Kuvardina ON, Herglotz J, Kolodziej S, et al. RUNX1 represses the erythroid gene expres-
886
haematologica | 2020; 105(4)