Oncogenic activation of MPL/thrombopoietin receptor by 17 mutations at W515: implications for myeloproliferative neoplasms
Tóm tắt
Từ khóa
Tài liệu tham khảo
Skoda RC, Duek A, Grisouard J . Pathogenesis of myeloproliferative neoplasms. Exp Hematol 2015; 43: 599–608.
Sangkhae V, Etheridge SL, Kaushansky K, Hitchcock IS . The thrombopoietin receptor, MPL, is critical for development of a JAK2V617F-induced myeloproliferative neoplasm. Blood 2014; 124: 3956–3963.
Staerk J, Lacout C, Sato T, Smith SO, Vainchenker W, Constantinescu SN . An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood 2006; 107: 1864–1871.
Defour JP, Itaya M, Gryshkova V, Brett IC, Pecquet C, Sato T et al. Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation. Proc Natl Acad Sci USA 2013; 110: 2540–2545.
Abe M, Suzuki K, Inagaki O, Sassa S, Shikama H . A novel MPL point mutation resulting in thrombopoietin-independent activation. Leukemia 2002; 16: 1500–1506.
Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006; 3: e270.
Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006; 108: 3472–3476.
Pecquet C, Staerk J, Chaligne R, Goss V, Lee KA, Zhang X et al. Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor. Blood 2010; 115: 1037–1048.
Boyd EM, Bench AJ, Goday-Fernandez A, Anand S, Vaghela KJ, Beer P et al. Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. Br J Haematol 2010; 149: 250–257.
Ma W, Zhang X, Wang X, Zhang Z, Yeh CH, Uyeji J et al. MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders. Diagn Mol Pathol 2011; 20: 34–39.
Beer PA, Campbell PJ, Scott LM, Bench AJ, Erber WN, Bareford D et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 2008; 112: 141–149.
Pardanani A, Guglielmelli P, Lasho TL, Pancrazzi A, Finke CM, Vannucchi AM et al. Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients. Leukemia 2011; 25: 1834–1839.
Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood 2004; 103: 4198–4200.
Venancio TM, Aravind L . CYSTM, a novel cysteine-rich transmembrane module with a role in stress tolerance across eukaryotes. Bioinformatics 2010; 26: 149–152.