Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes

Leukemia

Volumn 30, Issue 3, 2016, Pages 666-673

  Sallman, D A ^a   Komrokji, R ^a   Vaupel, C ^b   Cluzeau, T ^a,c,d,e,f   Geyer, S M ^g   McGraw, K L ^a   Al Ali, N H ^a   Lancet, J ^a   McGinniss, M J ^b   Nahas, S ^b   Smith, A E ^h   Kulasekararaj, A ^h   Mufti, G ^h   List, A ^a   Hall, J ^b   Padron, E ^a  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b Genoptix Inc   (United States)

^c UNIVERSITY HOSPITAL OF NICE   (France)

^d UNIVERSITÉ CÔTE D'AZUR   (France)

^e CENTRE MÉDITERRANÉEN DE MÉDECINE MOLÉCULAIRE C3M   (France)

^f French Group of Myelodysplasia   (France)

^g UNIVERSITY OF SOUTH FLORIDA   (United States)

^h KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CBL PROTEIN; DNA METHYLTRANSFERASE 3A; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; PROTEIN P53; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR EZH2; TRANSCRIPTION FACTOR RUNX1; NUCLEAR PROTEIN; PHOSPHOPROTEIN; RIBONUCLEOPROTEIN; RUNX1 PROTEIN, HUMAN; SF3B1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SRSF2 PROTEIN, HUMAN; TP53 PROTEIN, HUMAN;

ACUTE MYELOBLASTIC LEUKEMIA; AGED; ARTICLE; ASXL1 GENE; COHORT ANALYSIS; CYTOGENETICS; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MONOCYTOSIS; MPL GENE; MYELODYSPLASTIC SYNDROME; NPM1 GENE; NRAS GENE; OUTCOME ASSESSMENT; OVERALL SURVIVAL; PHENOTYPE; PHF6 GENE; PRIORITY JOURNAL; PROGNOSTIC ASSESSMENT; SCORING SYSTEM; SETBP1 GENE; SF3B1 GENE; SRSF2 GENE; TET2 GENE; THROMBOCYTOPENIA; U2AF1 GENE; ZRSR2 GENE; ALLELE; CHROMOSOME ANALYSIS; FOLLOW UP; GENE EXPRESSION; GENETICS; HIGH THROUGHPUT SEQUENCING; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MORTALITY; MULTIVARIATE ANALYSIS; MUTATION; MYELODYSPLASTIC SYNDROMES; PATHOLOGY; PROGNOSIS; SURVIVAL ANALYSIS; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALLELES; CORE BINDING FACTOR ALPHA 2 SUBUNIT; CYTOGENETIC ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION; GENE FREQUENCY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; MYELODYSPLASTIC SYNDROMES; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHOPROTEINS; PROGNOSIS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RIBONUCLEOPROTEINS; SURVIVAL ANALYSIS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84959352231     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2015.304     Document Type: Article

References (30)

1. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 2013; 122: 3616-3627
2. 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: 64-69
3. 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: 1384-1395
4. Malcovati L, Papaemmanuil E, Ambaglio I, Elena C, Galli A, Della Porta MG, et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood 2014; 124: 1513-1521
5. Jonveaux P, Fenaux P, Quiquandon I, Pignon JM, Lai JL, Loucheux-Lefebvre MH, et al. Mutations in the p53 gene in myelodysplastic syndromes. Oncogene 1991; 6: 2243-2247
6. Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl Med 2011; 364: 2496-2506
7. Kulasekararaj AG, Smith AE, Mian SA, Mohamedali AM, Krishnamurthy P, Lea NC, et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol 2013; 160: 660-672
8. Bejar R, Stevenson KE, Caughey B, Lindsley RC, Mar BG, Stojanov P, et al. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation. J Clin Oncol 2014; 32: 2691-2698
9. Bejar R, Lord A, Stevenson K, Bar-Natan M, Perez-Ladaga A, Zaneveld J, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood 2014; 124: 2705-2712
10. Bally C, Ades L, Renneville A, Sebert M, Eclache V, Preudhomme C, et al. Prognostic value of TP53 gene mutations in myelodysplastic syndromes and acute myeloid leukemia treated with azacitidine. Leuk Res 2014; 38: 751-755
11. Walter MJ, Shen D, Ding L, Shao J, Koboldt DC, Chen K, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med 2012; 366: 1090-1098
12. Passamonti F, Rumi E. Clinical relevance of JAK2 (V617F) mutant allele burden. Haematologica 2009; 94: 7-10
13. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009; 114: 937-951
14. Mohamedali AM, Gaken J, Ahmed M, Malik F, Smith AE, Best S, et al. High concordance of genomic and cytogenetic aberrations between peripheral blood and bone marrow in myelodysplastic syndrome (MDS). Leukemia 2015; 29: 1928-1938
15. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-424
16. Jadersten M, Saft L, Smith A, Kulasekararaj A, Pomplun S, Gohring G, et al. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 2011; 29: 1971-1979
17. Itzykson R, Kosmider O, Renneville A, Gelsi-Boyer V, Meggendorfer M, Morabito M, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol 2013; 31: 2428-2436
18. Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, Della Porta MG, Pascutto C, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood 2011; 118: 6239-6246
19. 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: 1058-1066
20. Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood 2013; 122: 4021-4034
21. Klco JM, Spencer DH, Miller CA, Griffith M, Lamprecht TL, O'Laughlin M, et al. Functional heterogeneity of genetically defined subclones in acute myeloid leukemia. Cancer Cell 2014; 25: 379-392
22. Chen CY, Lin LI, Tang JL, Ko BS, Tsay W, Chou WC, et al. RUNX1 gene mutation in primary myelodysplastic syndrome-The mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome. Br J Haematol 2007; 139: 405-414
23. Kita-Sasai Y, Horiike S, Misawa S, Kaneko H, Kobayashi M, Nakao M, et al. International prognostic scoring system and TP53 mutations are independent prognostic indicators for patients with myelodysplastic syndrome. Br J Haematol 2001; 115: 309-312
24. Horiike S, Kita-Sasai Y, Nakao M, Taniwaki M. Configuration of the TP53 gene as an independent prognostic parameter of myelodysplastic syndrome. Leuk Lymphoma 2003; 44: 915-922
25. Bejar R, Papaemmanuil E, Haferlach T, Garcia-Manero G, Maciejewski JP, Sekeres MA, et al. TP53 mutation status divides MDS patients with complex karyotypes into distinct prognostic risk groups: Analysis of combined datasets from the International Working Group for MDS-Molecular Prognosis Committee. 56th ASH Annual Meeting and Exposition 6-9 December 2014, vol. 124: San Francisco, CA, pp 532-532
26. Kaneko H, Misawa S, Horiike S, Nakai H, Kashima K. TP53 mutations emerge at early phase of myelodysplastic syndrome and are associated with complex chromosomal abnormalities. Blood 1995; 85: 2189-2193
27. Pellagatti A, Roy S, Genua CD, Burns A, McGraw K, Valletta S, et al. Targeted re-sequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression. Leukemia 2016; 30: 248-250
28. Genovese G, Kahler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. New Engl J Med 2014; 371: 2477-2487
29. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014; 371: 2488-2498
30. Xie M, Lu C, Wang J, McLellan MD, Johnson KJ, Wendl MC, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med 2014; 20: 1472-1478