SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations

Leukemia

Volumn 27, Issue 9, 2013, Pages 1852-1860

  Meggendorfer, M ^a   Bacher, U ^a   Alpermann, T ^a   Haferlach, C ^a   Kern, W ^a   Gambacorti Passerini, C ^b   Haferlach, T ^a   Schnittger, S ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

aCML; i(17)(q10); MDS MPN; molecular marker; monosomy 7; SETBP1

Indexed keywords

BIOLOGICAL MARKER; CBL PROTEIN; HEMOGLOBIN; PROTEIN; SET BINDING PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATYPICAL CHRONIC MYELOID LEUKEMIA; BASOPHIL; CELL STRUCTURE; CYTOGENETICS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GRANULOPOIESIS; HEMOGLOBIN BLOOD LEVEL; HUMAN; INCIDENCE; ISOCHROMOSOME; ISOCHROMOSOME I(17)(Q10); LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MONOCYTE; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE NEOPLASM; NEUTROPHIL; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE COUNT;

ADULT; AGED; AGED, 80 AND OVER; BONE MARROW; CARRIER PROTEINS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; ISOCHROMOSOMES; LEUKEMIA, MYELOID, CHRONIC, ATYPICAL, BCR-ABL NEGATIVE; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; MYELODYSPLASTIC SYNDROMES; MYELODYSPLASTIC-MYELOPROLIFERATIVE DISEASES; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS C-CBL; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84883742761     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2013.133     Document Type: Article

References (45)

1. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th edn. (International Agency for Research on Cancer (IARC): Lyon, 2008.
2. Vardiman JW, Bennett JM, Bain B, Brunning RD, Thiele J. Atypical chronic myeloid leukaemia, BCR-ABL1 negative. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al. (eds) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th edn. (International Agency for Research on Cancer (IARC): Lyon, p 80-81, 2008.
3. Fend F, Horn T, Koch I, Vela T, Orazi A. Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm. Leuk Res 2008; 32: 1931-1935.
4. Bacher U, Schnittger S, Kern W, Weiss T, Haferlach T, Haferlach C. Distribution of cytogenetic abnormalities in myelodysplastic syndromes, Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category. Ann Hematol 2009; 88: 1207-1213.
5. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005; 106: 2162-2168. (Pubitemid 41291734)
6. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-397. (Pubitemid 40544655)
7. Tefferi A, Gilliland DG. JAK2 in myeloproliferative disorders is not just another kinase. Cell Cycle 2005; 4: 1053-1056. (Pubitemid 41365364)
8. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356: 459-468. (Pubitemid 46193073)
9. 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.
10. 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.
11. Kohlmann A, Grossmann V, Klein HU, Schindela S, Weiss T, Kazak B et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 2010; 28: 3858-3865.
12. Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009; 145: 788-800.
13. Meggendorfer M, Roller A, Haferlach T, Eder C, Dicker F, Grossmann V et al. SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood 2012; 120: 3080-3088.
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 Chromosomes Cancer 2012; 51: 743-755.
15. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet 2013; 45: 18-24.
16. Hoischen A, van Bon BW, Gilissen C, Arts P, van LB, Steehouwer M et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010; 42: 483-485.
17. Cristobal I, Blanco FJ, Garcia-Orti L, Marcotegui N, Vicente C, Rifon J et al. SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood 2010; 115: 615-625.
18. Albano F, Anelli L, Zagaria A, Coccaro N, Casieri P, Minervini A et al. SETBP1 and miR 4319 dysregulation in primary myelofibrosis progression to acute myeloid leukemia. J Hematol Oncol 2012; 5: 48.
19. Panagopoulos I, Kerndrup G, Carlsen N, Strombeck B, Isaksson M, Johansson B. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12). Br J Haematol 2007; 136: 294-296. (Pubitemid 46020757)
20. Shaffer LG, Tommerup N. ISCN 2013: An international System for Human Cytogenetic Nomenclature. Karger: Basel, New York, 2013.
21. Haferlach C, Rieder H, Lillington DM, Dastugue N, Hagemeijer A, Harbott J et al. Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes. Genes Chromosomes Cancer 2007; 46: 494-499. (Pubitemid 46449252)
22. Schnittger S, Schoch C, Dugas M, Kern W, Staib P, Wuchter C et al. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood 2002; 100: 59-66. (Pubitemid 35177429)
23. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
24. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
25. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
26. Schnittger S, Bacher U, Kern W, Schroder M, Haferlach T, Schoch C. Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia 2006; 20: 2195-2197. (Pubitemid 44782853)
27. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009; 113: 6182-6192.
28. Schnittger S, Eder C, Jeromin S, Alpermann T, Fasan A, Grossmann V et al. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia 2013; 27: 82-91.
29. Schnittger S, Bacher U, Haferlach C, Geer T, Muller P, Mittermuller J et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. Haematologica 2009; 94: 414-418.
30. Schnittger S, Bacher U, Haferlach C, Dengler R, Krober A, Kern W et al. Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. Leukemia 2008; 22: 453-455. (Pubitemid 351265131)
31. Grossmann V, Schnittger S, Kohlmann A, Eder C, Roller A, Dicker F et al. A novel hierarchical prognostic model of AML solely based on molecular mutations. Blood 2012; 120: 2963-2972.
32. Thiele J, Kwasnicka H, Orazi A, Tefferi A, Birgegard G. Polycythemia vera. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al. (eds). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th edn. International Agency for Research on Cancer (IARC): Lyon, p 40-43, 2008.
33. 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.
34. Jeromin S, Haferlach T, Grossmann V, Alpermann T, Kowarsch A, Haferlach C et al. High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms. Haematologica 2012; 98: e15-e17.
35. Damm F, Itzykson R, Kosmider O, Droin N, Renneville A, Chesnais V et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia 2013; e-pub ahead of print 5 February 2013; doi:10.1038/lieu.2013.35.
36. Kanagal-Shamanna R, Bueso-Ramos CE, Barkoh B, Lu G, Wang S, Garcia-Manero G et al. Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53. Cancer 2012; 118: 2879-2888.
37. Schwaab J, Ernst T, Erben P, Rinke J, Schnittger S, Strobel P et al. Activating CBL mutations are associated with a distinct MDS/MPN phenotype. Ann Hematol 2012; 91: 1713-1720.
38. Schnittger S, Bacher U, Alpermann T, Reiter A, Ulke M, Dicker F et al. Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases. Haematologica 2012; 97: 1890-1894.
39. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009; 460: 904-908.
40. Jankowska AM, Makishima H, Tiu RV, Szpurka H, Huang Y, Traina F et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 2011; 118: 3932-3941.
41. Gelsi-Boyer V, Trouplin V, Roquain J, Adelaide J, Carbuccia N, Esterni B et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol 2010; 151: 365-375.
42. Butler JS, Dent SY. The role of chromatin modifiers in normal and malignant hematopoiesis. Blood 2013; 121: 3076-3084.
43. Abdel-Wahab O, Adli M, Saunders L, Gao JG, Shih A, Pandey S et al. ASXL1 mutations promote myeloid transformation through inhibition of PRC2-mediated gene repression. Blood 2011; 118: 405a.
44. Oakley K, Han Y, Vishwakarma BA, Chu S, Bhatia R, Gudmundsson KO et al. Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10. Blood 2012; 119: 6099-6108.
45. Makishima H, Yoshida K, Nguyen N, Sanada M, Okuno Y, Ng KP et al. Somatic mutations in Schinzel-Giedion syndrome gene SETBP1 determine progression in myeloid malignancies. ASH Annual Meeting Abstracts 2012; 120: 2.