Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms

Leukemia

Volumn 28, Issue 5, 2014, Pages 1052-1059

  Tenedini, E ^a   Bernardis, I ^a   Artusi, V ^a   Artuso, L ^a   Roncaglia, E ^a   Guglielmelli, P ^b   Pieri, L ^b   Bogani, C ^b   Biamonte, F ^b   Rotunno, G ^b   Mannarelli, C ^b   Bianchi, E ^a   Pancrazzi, A ^b   Fanelli, T ^b   Malagoli Tagliazucchi, G ^a   Ferrari, S ^a   Manfredini, R ^a   Vannucchi, A M ^b   Tagliafico, E ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

mutational analysis; myeloproliferative neoplasms; next generation sequencing; NRAS; polycythemia vera; primary myelofibrosis

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; FAT4 PROTEIN; GENOMIC DNA; MESSENGER RNA; MICRORNA; MICRORNA 662; UNCLASSIFIED DRUG; UVOMORULIN;

ARTICLE; CANCER RECURRENCE; CANCER SCREENING; CD3+ T LYMPHOCYTE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DENSITY GRADIENT CENTRIFUGATION; EXOME; FLOW CYTOMETRY; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC SCREENING; GRANULOCYTE; HUMAN; HUMAN CELL; IN VITRO STUDY; INTERNATIONAL PROGNOSTIC SCORING SYSTEM; KRUSKAL WALLIS TEST; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE NEOPLASM; NEXT GENERATION SEQUENCING; PHILADELPHIA CHROMOSOME NEGATIVE CELL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SOMATIC MUTATION; T LYMPHOCYTE;

COHORT STUDIES; EXOME; GERM-LINE MUTATION; HUMANS; MYELOPROLIFERATIVE DISORDERS; NEOPLASMS;

EID: 84899946069     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.302     Document Type: Article

References (43)

1. Kralovics R, Teo SS, Buser AS, Brutsche M, Tiedt R, Tichelli A. et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005; 106: 3374-3376.
2. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006; 355: 2452-2466.
3. Milosevic JD, Kralovics R. Genetic and epigenetic alterations of myeloproliferative disorders. Int J Hematol 2013; 97: 183-197.
4. Levine RL, Pardanani A, Tefferi A, Gilliland DG. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer 2007; 7: 673-683.
5. Pardanani A, Laborde RR, Lasho TL, Finke C, Begna K, Al-Kali A. et al. Safety and efficacy of CYT387, a JAK1 and JAK2 inhibitor, in myelofibrosis. Leukemia 2013; 27: 1322-1327.
6. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia 2008; 22: 1841-1848.
7. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: Discovery and science. Leukemia 2008; 22: 1813-1817.
8. 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 medicine 2006; 3: E270.
9. Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV. et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010; 42: 722-726.
10. Score J, Hidalgo-Curtis C, Jones AV, Winkelmann N, Skinner A, Ward D. et al. Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms. Blood 2012; 119: 1208-1213.
11. Puda A, Milosevic JD, Berg T, Klampfl T, Harutyunyan AS, Gisslinger B. et al. Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies. Am J Hematol 2012; 87: 245-250.
12. Brecqueville M, Cervera N, Adelaide J, Rey J, Carbuccia N, Chaffanet M. et al. Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms. Blood CancerJ 2011; 1: E33.
13. Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K. et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood 2011; 118: 167-176.
14. Brecqueville M, Rey J, Bertucci F, Coppin E, Finetti P, Carbuccia N. et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosome Canc 2012; 51: 743-755.
15. Lasho TL, Jimma T, Finke CM, Patnaik M, Hanson CA, Ketterling RP. et al. SRSF2 mutations in primary myelofibrosis: Significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survival. Blood 2012; 120: 4168-4171.
16. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010; 24: 1128-1138.
17. Tefferi A, Jimma T, Sulai NH, Lasho TL, Finke CM, Knudson RA. et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: Clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia 2012; 26: 475-480.
18. Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A. et al. Mutations and prognosis in primary myelofibrosis. Leukemia 2013; 27: 1861-1869.
19. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA. et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: Recommendations from an ad hoc international expert panel. Blood 2007; 110: 1092-1097.
20. Mesa RA, Verstovsek S, Cervantes F, Barosi G, Reilly JT, Dupriez B. et al. Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): Consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). Leuk Res 2007; 31: 737-740.
21. Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Lo Coco F, Antonioli E. et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood 2009; 114: 1477-1483.
22. Scott BL, Gooley TA, Sorror ML, Rezvani AR, Linenberger ML, Grim J. et al. The Dynamic International Prognostic Scoring System for myelofibrosis predicts outcomes after hematopoietic cell transplantation. Blood 2012; 119: 2657-2664.
23. Gangat N, Caramazza D, Vaidya R, George G, Begna K, Schwager S. et al. DIPSS plus: A refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol 2011; 29: 392-397.
24. Humbert PO, Grzeschik NA, Brumby AM, Galea R, Elsum I, Richardson HE. Control of tumourigenesis by the Scribble/Dlg/Lgl polarity module. Oncogene 2008; 27: 6888-6907.
25. Wang Y. Wnt/Planar cell polarity signaling: A new paradigm for cancer therapy. Mol Cancer Ther 2009; 8: 2103-2109.
26. Parker MH, Perry RL, Fauteux MC, Berkes CA, Rudnicki MA. MyoD synergizes with the E-protein HEB beta to induce myogenic differentiation. Mol Cell Biol 2006; 26: 5771-5783.
27. Park S, Chen W, Cierpicki T, Tonelli M, Cai X, Speck NA. et al. Structure of the AML1-ETO eTAFH domain-HEB peptide complex and its contribution to AML1-ETO activity. Blood 2009; 113: 3558-3567.
28. Goardon N, Lambert JA, Rodriguez P, Nissaire P, Herblot S, Thibault P. et al. ETO2 coordinates cellular proliferation and differentiation during erythropoiesis. The EMBO journal 2006; 25: 357-366.
29. Lee CC, Chen WS, Chen CC, Chen LL, Lin YS, Fan CS. et al. TCF12 protein functions as transcriptional repressor of E-cadherin, and its overexpression is correlated with metastasis of colorectal cancer. J Biol Chem 2012; 287: 2798-2809.
30. Wynn TA, Ramalingam TR. Mechanisms of fibrosis: Therapeutic translation for fibrotic disease. Nat Med 2012; 18: 1028-1040.
31. van Meeteren LA, ten Dijke P. Regulation of endothelial cell plasticity by TGF-beta. Cell Tissue Res 2012; 347: 177-186.
32. Rosti V, Villani L, Riboni R, Poletto V, Bonetti E, Tozzi L. et al. Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation. Blood 2013; 121: 360-368.
33. Lei Y, Zhu H, Duhon C, Yang W, Ross ME, Shaw GM. et al. Mutations in planar cell polarity gene scrib are associated with spina bifida. PloS One 2013; 8: E69262.
34. Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND. et al. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat 2012; 33: 440-447.
35. Brumby AM, Richardson HE. Scribble mutants cooperate with oncogenic Ras or Notch to cause neoplastic overgrowth in Drosophila. The EMBO journal 2003; 22: 5769-5779.
36. Dow LE, Elsum IA, King CL, Kinross KM, Richardson HE, Humbert PO. Loss of human Scribble cooperates with H-Ras to promote cell invasion through deregulation of MAPK signalling. Oncogene 2008; 27: 5988-6001.
37. Wu M, Pastor-Pareja JC, Xu T. Interaction between Ras(V12) and scribbled clones induces tumour growth and invasion. Nature 2010; 463: 545-548.
38. Marcinkowska M, Szymanski M, Krzyzosiak WJ, Kozlowski P. Copy number variation of microRNA genes in the human genome. BMC Genomics 2011; 12: 183.
39. Miller JL, Koc H, Koc EC. Identification of phosphorylation sites in mammalian mitochondrial ribosomal protein DAP3. Protein Sci 2008; 17: 251-260.
40. Mukamel Z, Kimchi A. Death-Associated protein 3 localizes to the mitochondria and is involved in the process of mitochondrial fragmentation during cell death. J Biol Chem 2004; 279: 36732-36738.
41. Irminger-Finger I, Leung WC, Li J, Dubois-Dauphin M, Harb J, Feki A. et al. Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis. Molecular cell 2001; 8: 1255-1266.
42. Fernandez-Medarde A, Santos E. Ras in cancer and developmental diseases. Genes & cancer 2011; 2: 344-358.
43. Paulsson K, Horvat A, Strombeck B, Nilsson F, Heldrup J, Behrendtz M. et al. Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosome Canc 2008; 47: 26-33.