Recent insights regarding the molecular basis of myeloproliferative neoplasms

키워드

참고문헌 (99)

1. Vardiman JW, "Hematopathology", pp.847~881 (2017), Elsevier
2. Swerdlow SH, "WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues" (2017), International Agency for Research on Cancer
3. 임유주, "Incidence, Survival and Prevalence Statistics of Classical Myeloproliferative Neoplasm in Korea", Journal of Korean Medical Science, 31(10), pp.1579~1585 (2016), 대한의학회
4. 최철원, "Guidelines for the management of myeloproliferative neoplasms", The Korean Journal of Internal Medicine, 30(6), pp.771~788 (2015), 대한내과학회[DOI]
5. Byun JM, "Real world epidemiology of myeloproliferative neoplasms : a population based study in Korea 2004-2013", Ann Hematol, 96, pp.373~381 (2017)
6. "Blood", 1951, 372~375
7. Vainchenker W, "Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms", Blood, 129, pp.667~679 (2017)
8. Grinfeld J, "Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms", Haematologica, 102, pp.7~17 (2017)
9. Quintas-Cardama A, "Preclinical characterization of the selective JAK1", 2 inhibitor INCB018424 : therapeutic implications for the treatment of myeloproliferative neoplasms, 2010, pp.115, 3109~3117
10. James C, "A unique clonal JAK2mutation leading to constitutive signalling causes polycythaemia vera", Nature, 434, pp.1144~1148 (2005)
11. Baxter EJ, "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders", Lancet, 365, pp.1054~1061 (2005)
12. Kralovics R, "A gain-of-function mutation of JAK2 in myeloproliferative disorders", N Engl J Med, 352, pp.1779~1790 (2005)
13. Levine RL, "Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis", Cancer Cell, 7, pp.387~397 (2005)
14. Pardanani AD, "MPL515 mutations in myeloproliferative and other myeloid disorders : a study of 1182 patients", Blood, 108, pp.3472~3476 (2006)
15. Klampfl T, "Somatic mutations of calreticulin in myeloproliferative neoplasms", N Engl J Med, 369, pp.2379~2390 (2013)
16. Nangalia J, "Somatic CALR mutations in myeloproliferative neoplasm with nonmutated JAK2", N Engl J Med, 369, pp.2391~2405 (2013)
17. Maxson JE, "Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML", N Engl J Med, 368, pp.1781~1790 (2013)
18. Pardanani A, "CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia", Leukemia, 27, pp.1870~1873 (2013)
19. Lasho TL, "LNK mutations in JAK2 mutation-negative erythrocytosis", N Engl J Med, 363, pp.1189~1190 (2010)
20. Oh ST, "Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms", Blood, 116, pp.988~992 (2010)
21. Grand FH, "Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms", Blood, 113, pp.6182~6192 (2009)
22. Schwaab J, "Activating CBL mutations are associated with a distinct MDS", MPN phenotype, 2012, pp.91, 1713~1720
23. Suessmuth Y, "A new polycythaemia vera-associated SOCS3 SH2 mutant(SOCS3F136L)cannot regulate erythropoietin responses", Br J Haematol, 147, pp.450~458 (2009)
24. Lu X, "Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation", Proc Natl Acad Sci U S A, 102, pp.18962~18967 (2005)
25. Passamonti F, "Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations", Blood, 117, pp.2813~2816 (2011)
26. Scott LM, "JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis", N Engl J Med, 356, pp.459~468 (2007)
27. Dusa A, "JAK2 V617F constitutive activation requires JH2residue F595 : a pseudokinase domain target for specific inhibitors", PLoS One, 5, pp.e11157~ (2010)
28. Staerk J, "An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor", Blood, 107, pp.1864~1871 (2006)
29. Pikman Y, "MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia", PLoS Med, 3, pp.e270~ (2006)
30. Defour JP, "Oncogenic activation of MPL", thrombopoietin receptor by 17 mutations at W515 : implications for myeloproliferative neoplasms, 2016, pp.30, 1214~1216
31. Ding J, "Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin", Blood, 103, pp.4198~4200 (2004)
32. Michalak M, "Calreticulin, a multi-process calcium-buffering chaperone of the endoplasmic reticulum", Biochem J, 417, pp.651~666 (2009)
33. Rumi E, "Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms", Blood, 129, pp.680~692 (2017)
34. Rumi E, "JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes", Blood, 123, pp.1544~1551 (2014)
35. Rumi E, "Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis", Blood, 124, pp.1062~1069 (2014)
36. Tefferi A, "CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis : clinical, cytogenetic and molecular comparisons", Leukemia, 28, pp.1472~1477 (2014)
37. Li J, "Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage", Blood, 131, pp.649~661 (2018)
38. Araki M, "Activation of the thrombopoietin receptor by mutant calreticulin in CALR-mutant myeloproliferative neoplasms", Blood, 127, pp.1307~1316 (2016)
39. Chachoua I, "Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants", Blood, 127, pp.1325~1335 (2016)
40. Marty C, "Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis", Blood, 127, pp.1317~1324 (2016)
41. Nivarthi H, "Thrombopoietin receptor is required for the oncogenic function of CALR mutants", Leukemia, 30, pp.1759~1763 (2016)
42. Balligand T, "Pathologic activation of thrombopoietin receptor and JAK2-STAT5pathway by frameshift mutants of mouse calreticulin", Leukemia, 30, pp.1775~1778 (2016)
43. Elf S, "Mutant calreticulin requires both its mutant c-terminus and the thrombopoietin receptor for oncogenic transformation", Cancer Discov, 6, pp.368~381 (2016)
44. Elf S, "Defining the requirements for the pathogenic interaction between mutant calreticulin and MPL in MPN", Blood, 131, pp.782~786 (2018)
45. Cabagnols X, "Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia : relevance for disease evolution", Leukemia, 29, pp.249~252 (2015)
46. Pietra D, "Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms", Leukemia, 30, pp.431~438 (2016)
47. Gotlib J, "The new genetics of chronic neutrophilic leukemia and atypical CML : implications for diagnosis and treatment", Blood, 122, pp.1707~1711 (2013)
48. Dao KH, "What’s different about atypical CML and chronic neutrophilic leukemia", Hematology Am Soc Hematol Educ Program, 2015, pp.264~271 (2015)
49. 장미애, "골수증식 종양의 2017년 WHO 진단기준 주요 변경 사항의 이해", 대한내과학회지, 93(4), pp.351~359 (2018), 대한내과학회
50. Maxson JE, "Genomics of chronic neutrophilic leukemia", Blood, 129, pp.715~722 (2017)
51. Cabagnols X, "Presence of atypical thrombopoietin receptor(MPL)mutations in triple-negative essential thrombocythemia patients", Blood, 127, pp.333~342 (2016)
52. Milosevic Feenstra JD, "Whole-exome sequencing identifies novel MPL and JAK2mutations in triple-negative myeloproliferative neoplasms", Blood, 127, pp.325~332 (2016)
53. Lundberg P, "Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms", Blood, 123, pp.2220~2228 (2014)
54. Cancer Genome Atlas Research Network, "Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia", N Engl J Med, 368, pp.2059~2074 (2013)
55. Papaemmanuil E, "Genomic classification and prognosis in acute myeloid leukemia", N Engl J Med, 374, pp.2209~2221 (2016)
56. Papaemmanuil E, "Clinical and biological implications of driver mutations in myelodysplastic syndromes", Blood, 122, pp.3616~3627 (2013)
57. Bejar R, "Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation", J Clin Oncol, 32, pp.2691~2698 (2014)
58. Jaiswal S, "Age-related clonal hematopoiesis associated with adverse outcomes", N Engl J Med, 371, pp.2488~2498 (2014)
59. McKerrell T, "Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis", Cell Rep, 10, pp.1239~1245 (2015)
60. Xie M, "Age-related mutations associated with clonal hematopoietic expansion and malignancies", Nat Med, 20, pp.1472~1478 (2014)
61. Tefferi A, "Targeted deep sequencing in polycythemia vera and essential thrombocythemia", Blood Adv, 1, pp.21~30 (2016)
62. Zhang X, "DNMT3A and TET2 compete and cooperate to repress lineage-specific transcription factors in hematopoietic stem cells", Nat Genet, 48, pp.1014~1023 (2016)
63. Stegelmann F, "DNMT3A mutations in myeloproliferative neoplasms", Leukemia, 25, pp.1217~1219 (2011)
64. Delhommeau F, "Mutation in TET2 in myeloid cancers", N Engl J Med, 360, pp.2289~2301 (2009)
65. Ortmann CA, "Effect of mutation order on myeloproliferative neoplasms", N Engl J Med, 372, pp.601~612 (2015)
66. Brecqueville M, "Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms", Genes Chromosomes Cancer, 51, pp.743~755 (2012)
67. Carbuccia N, "Mutations of ASXL1 gene in myeloproliferative neoplasms", Leukemia, 23, pp.2183~2186 (2009)
68. Abdel-Wahab O, "Role of TET2 and ASXL1 mutations in the pathogenesis of myeloproliferative neoplasms", Hematol Oncol Clin North Am, 26, pp.1053~1064 (2012)
69. Yang H, "Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies", Blood, 131, pp.328~341 (2018)
70. Khan SN, "Multiple mechanisms deregulate EZH2 and histone H3 lysine 27epigenetic changes in myeloid malignancies", Leukemia, 27, pp.1301~1309 (2013)
71. Guglielmelli P, "EZH2 mutational status predicts poor survival in myelofibrosis", Blood, 118, pp.5227~5234 (2011)
72. Yang Y, "Loss of Ezh2 cooperates with Jak2V617F in the development of myelofibrosis in a mouse model of myeloproliferative neoplasm", Blood, 127, pp.3410~3423 (2016)
73. Yoshida K, "Frequent pathway mutations of splicing machinery in myelodysplasia", Nature, 478, pp.64~69 (2011)
74. Kim E, "SRSF2 mutations contribute to myelodysplasia by mutant-specific effects on exon recognition", Cancer Cell, 27, pp.617~630 (2015)
75. Shirai CL, "Mutant U2AF1 expression alters hematopoiesis and pre-mRNA splicing in vivo", Cancer Cell, 27, pp.631~643 (2015)
76. Goerttler PS, "Gene expression profiling in polycythaemia vera : overexpression of transcription factor NF-E2", Br J Haematol, 129, pp.138~150 (2005)
77. Wang W, "AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2", Blood, 116, pp.254~266 (2010)
78. Peeken JC, "Epigenetic regulation of NFE2 overexpression in myeloproliferative neoplasms", Blood, 131, pp.2065~2073 (2018)
79. Ward AF, "Targeting oncogenic Ras signaling in hematologic malignancies", Blood, 120, pp.3397~3406 (2012)
80. Kong G, "Loss of wildtype Kras promotes activation of all Ras isoforms in oncogenic Kras-induced leukemogenesis", Leukemia, 30, pp.1542~1551 (2016)
81. You X, "Unique dependence on Sos1 in Kras(G12D)-induced leukemogenesis", Blood, 132, pp.2575~2579 (2018)
82. Rumi E, "Familial chronic myeloproliferative disorders : clinical phenotype and evidence of disease anticipation", J Clin Oncol, 25, pp.5630~5635 (2007)
83. Rumi E, "LNK mutations in familial myeloproliferative neoplasms", Blood, 128, pp.144~145 (2016)
84. Lanikova L, "Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera", Blood, 128, pp.2266~2270 (2016)
85. Landgren O, "Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24, 577 first-degree relatives of 11, 039 patients with myeloproliferative neoplasms in Sweden", Blood, 112, pp.2199~2204 (2008)
86. Olcaydu D, "A common JAK2haplotype confers susceptibility to myeloproliferative neoplasms", Nat Genet, 41, pp.450~454 (2009)
87. Oddsson A, "The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms", Leukemia, 28, pp.1371~1374 (2014)
88. Hinds DA, "Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms", Blood, 128, pp.1121~1128 (2016)
89. Tapper W, "Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms", Nat Commun, 6, pp.6691~ (2015)
90. Vassiliou GS, "JAK2 V617F clonal disorders : fate or chance", Blood, 128, pp.1032~1033 (2016)
91. Nangalia J, "DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype", Haematologica, 100, pp.e438~e442 (2015)
92. Cervantes F, "Acute transformation in nonleukemic chronic myeloproliferative disorders : actuarial probability and main characteristics in a series of 218 patients", Acta Haematol, 85, pp.124~127 (1991)
93. Rampal R, "Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms", Proc Natl Acad Sci U S A, 111, pp.E5401~E5410 (2014)[DOI]
94. Klampfl T, "Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression", Blood, 118, pp.167~176 (2011)
95. Harutyunyan A, "p53 lesions in leukemic transformation", N Engl J Med, 364, pp.488~490 (2011)
96. Kubesova B, "Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms : association with age, hydroxyurea administration, disease type and JAK2 mutational status", Leukemia, 32, pp.450~461 (2018)
97. Sood R, "Role of RUNX1 in hematological malignancies", Blood, 129, pp.2070~2082 (2017)
98. Beer PA, "Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm", Blood, 115, pp.2891~2900 (2010)
99. Li B, "Leukemic transformation of myeloproliferative neoplasms : therapeutic and genomic considerations", Curr Hematol Malig Rep, 13, pp.588~595 (2018)

관련 논문AI추천