SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes

Haematologica

Volumn 99, Issue 5, 2014, Pages 830-835

  Hanssens, Katia ^a,b   Brenet, Fabienne ^a   Agopian, Julie ^a,b   Georgin Lavialle, Sophie ^b,c,d   Damaj, Gandhi ^e   Cabaret, Laure ^b   Chandesris, Maria Olivia ^b   de Sepulveda, Paulo ^a   Hermine, Olivier ^b,c   Dubreuil, Patrice ^a,b   Soucie, Erinn ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CNRS   (France)

^d HÔPITAL TENON   (France)

^e AMIENS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; PROTEINASE ACTIVATED RECEPTOR 2; STEM CELL FACTOR RECEPTOR; DNA BINDING PROTEIN; NUCLEAR PROTEIN; ONCOPROTEIN; RIBONUCLEOPROTEIN; SRSF2 PROTEIN, HUMAN; TET2 PROTEIN, HUMAN;

ARTICLE; CELL ACTIVATION; COHORT ANALYSIS; DNA ISOLATION; EPIGENETICS; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC REGULATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MAST CELL; MASTOCYTOSIS; MOLECULAR CLONING; OVERALL SURVIVAL; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; REGULATOR GENE; SRSF2 P95 GENE; CANCER STAGING; CLINICAL TRIAL; CLONAL EVOLUTION; GENETIC EPIGENESIS; GENETICS; METABOLISM; MORTALITY; MULTICENTER STUDY; MUTATION; PATHOLOGY;

CLONAL EVOLUTION; DNA-BINDING PROTEINS; EPIGENESIS, GENETIC; FEMALE; HUMANS; MALE; MAST CELLS; MASTOCYTOSIS; MUTATION; NEOPLASM STAGING; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; RIBONUCLEOPROTEINS;

EID: 84898684757     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.095133     Document Type: Article

References (27)

1. Sánchez-Muñoz L, Alvarez-Twose I, García-Montero AC, Teodosio C, Jara-Acevedo M, Pedreira CE, et al. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol. 2011; 24(9): 1157-68.
2. Pardanani A. Systemic mastocytosis in adults: 2012 update on diagnosis, risk stratification, and management. Am J Hematol. 2012; 87(4): 401-11.
3. Sperr WR, Valent P. Diagnosis, progression patterns and prognostication in mastocytosis. Expert Rev Hematol. 2012; 5(3): 261-74.
4. Lim KH, Tefferi A, Lasho TL, Finke C, Patnaik M, Butterfield JH, et al. Systemic mastocytosis in 342 consecutive adults: Survival studies and prognostic factors. Blood. 2009; 113(23): 5727-36.
5. Wang SA, Hutchinson L, Tang G, Chen SS, Miron PM, Huh YO, et al. Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: Clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. Am J Hematol. 2013; 88(3): 219-24.
6. Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, et al. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011; 96(3): 459-63.
7. Soucie E, Hanssens K, Mercher T, Georgin-Lavialle S, Damaj G, Livideanu C, et al. In aggressive forms of mastocytosis, TET2 loss cooperates with c-kitd816v to transform mast cells. Blood. 2012; 120(24): 4846-9.
8. Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011; 118(7): 1723-35.
9. Kar SA, Jankowska A, Makishima H, Visconte V, Jerez A, Sugimoto Y, et al. Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. Haematologica. 2013; 98(1): 107-13.
10. Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012; 119(14): 3203-10.
11. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011; 478(7367): 64-9.
12. Mian SA, Smith AE, Kulasekararaj AG, Kizilors A, Mohamedali AM, Lea NC, et al. Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome. Haematologica. 2013; 98(7): 1058-66.
13. Edmond V, Moysan E, Khochbin S, Matthias P, Brambilla C, Brambilla E, et al. Acetylation and phosphorylation of SRSF2 control cell fate decision in response to cisplatin. EMBO J. 2011; 30(3): 510-23.
14. Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, et al. Diagnostic criteria and classification of mastocytosis: A consensus proposal. Leuk Res. 2001; 25(7): 603-25.
15. Bo C, Hermine O, Palmérini F, Yang Y, Grandpeix-Guyodo C, Leventhal PS, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-kit mutations. J Invest Dermatol. 2010; 130 (3): 804-15.
16. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009; 360(22): 2289-301.
17. 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(8): 743-55.
18. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011; 365(15): 1384-95.
19. Visconte V, Tabarroki A, Rogers HJ, Hasrouni E, Traina F, Makishima H, et al. SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. Haematologica. 2013; 98(9): e105-7.
20. Zhong XY, Wang P, Han J, Rosenfeld MG, Fu XD. SR proteins in vertical integration of gene expression from transcription to RNA processing to translation. Mol Cell. 2009; 35(1): 1-10.
21. Lin S, Coutinho-Mansfield G, Wang D, Pandit S, Fu XD. The splicing factor SC35 has an active role in transcriptional elongation. Nat Struct Mol Biol. 2008; 15(8): 819-26.
22. Ji X, Zhou Y, Pandit S, Huang J, Li H, Lin CY, et al. SR proteins collaborate with 7SK and promoter-associated nascent RNA to release paused polymerase. Cell. 2013; 153(4): 855-68.
23. Khan SN, Jankowska AM, Mahfouz R, Dunbar AJ, Sugimoto Y, Hosono N, et al. Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies. Leukemia. 2013; 27(6): 1301-9.
24. Visconte V, Makishima H, Maciejewski JP, Tiu RV. Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders. Leukemia. 2012; 26(12): 2447-54.
25. Brown SJ, Stoilov P, Xing Y. Chromatin and epigenetic regulation of pre-mrna processing. Hum Mol Genet. 2012; 21(R1): R90-6.
26. Zhang SJ, Rampal R, Manshouri T, Patel J, Mensah N, Kayserian A, et al. Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. Blood. 2012; 119 (19): 4480-5.
27. 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(20): 4168-71.