Page 255 - Haematologica Vol. 107 - September 2022

LETTER TO THE EDITOR
ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47(5):535-538.
3. Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180-185.
4. Topka S, Vijai J, Walsh MF, et al. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 2015;11(6):1-14.
5. Moriyama T, Metzger ML, Wu G, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: A systematic genetic study. Lancet Oncol. 2015;16(16):1659-1666.
6. Melazzini F, Palombo F, Balduini A, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101(11):1333-1342.
7. Poggi M, Canault M, Favier M, et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102(2):282-294.
8. Karastaneva A, Nebral K, Schlagenhauf A, et al. Novel phenotypes observed in patients with ETV6 -linked leukaemia/familial thrombocytopenia syndrome and a biallelic
ARID5B risk allele as leukaemogenic cofactor. J Med Genet.
2020;57(6):427-433.
9. Nishii R, Baskin-Doerfler R, Yang W, et al. Molecular basis of
ETV6-mediated predisposition to childhood acute
lymphoblastic leukemia. Blood. 2021;137(3):364-373.
10. Rubnitz JE, Pui CH, Downing JR. The role of TEL fusion genes in
pediatric leukemias. Leukemia. 1999;13(1):6-13.
11. Fenrick R, Wang L, Nip J, et al. TEL, a putative tumor
suppressor, modulates cell growth and cell morphology of Ras- transformed cells while repressing the transcription of stromelysin-1. Mol Cell Biol. 2000;20(16):5828-5839.
12. Wood LD, Irvin BJ, Nucifora G, Nellide AH, Luce KS, Hiebert SW. Small ubiquitin-like modifier conjugation regulates nuclear export of TEL, a putative tumor suppressor. Proc Natl Acad Sci U S A. 2003;100(6):3257-3262.
13. Benko S, Magalhaes JG, Philpott DJ, Girardin SE. NLRC5 limits the activation of inflammatory pathways. J Immunol. 2010;185(3):1681-1691.
14. Green SM, Coyne HJ, McIntosh HP, Benet N, Graves BJ. DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association. J Biol Chem. 2010;285(24):18496-18504.
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