Preferential occurrence of spliceosome mutations in acute myeloid leukemia with preceding myelodysplastic syndrome and/or myelodysplasia morphology

Leukemia and Lymphoma

Volumn 56, Issue 8, 2015, Pages 2301-2308

  Cho, Young Uk ^a   Jang, Seongsoo ^a   Seo, Eul Ju ^a   Park, Chan Jeoung ^a   Chi, Hyun Sook ^a   Kim, Dae Young ^a   Lee, Jung Hee ^a   Lee, Je Hwan ^a   Lee, Kyoo Hyung ^a   Koh, Kyung Nam ^a   Im, Ho Joon ^a   Seo, Jong Jin ^a   Park, Sang Hyuk ^b   Park, Young Mi ^a   Lee, Jong Keuk ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Pusan National University School of Medicine   (South Korea)

Author keywords

Acute myeloid leukemia; MDS related cytogenetics; myelodysplastic syndrome; spliceosome mutation

Indexed keywords

BIOLOGICAL MARKER; GENOMIC DNA; SF3B1 PROTEIN; SRSF2 PROTEIN; U2AF1 PROTEIN; UNCLASSIFIED DRUG;

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; ATYPICAL CHRONIC MYELOID LEUKEMIA; CANCER GROWTH; CANCER PROGNOSIS; CANCER SURVIVAL; CHILD; CHROMOSOME ANALYSIS; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLONAL EVOLUTION; CYTOGENETICS; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INTERNATIONAL PROGNOSTIC SCORING SYSTEM; KARYOTYPE; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MYELODYSPLASTIC SYNDROME; OVERALL SURVIVAL; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECURRENCE FREE SURVIVAL; REFRACTORY ANEMIA; REFRACTORY ANEMIA WITH EXCESS BLASTS; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; SOMATIC MUTATION; SPLICEOSOME; SURVIVAL TIME; CELL TRANSFORMATION; CHROMOSOME ABERRATION; DISEASE COURSE; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; INFANT; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MORTALITY; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; SURVIVAL ANALYSIS; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CELL TRANSFORMATION, NEOPLASTIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DISEASE PROGRESSION; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; PROGNOSIS; SPLICEOSOMES; SURVIVAL ANALYSIS; YOUNG ADULT;

EID: 84943372079     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2014.995648     Document Type: Article

References (32)

1. Arber DA, Porwit A, Brunning RD, et al. Acute myeloid leukaemia with myelodysplasia-related changes. In: Swerdlow SH, Campo E, Harris NL, et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008. pp 124-126.
2. Vardiman JW, Matutes E, Arber DA, et al. Therapy-related myeloid neoplasms. In: Swerdlow SH, Campo E, Harris NL, et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008. pp 127-129.
3. Yoshida K, Sanada N, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-69.
4. Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood 2011; 118: 6239-6246.
5. Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-1395.
6. Damm F, Thol F, Kosmider O, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia 2012; 26: 1137-1140.
7. Visconte V, Makishima H, Jankowska A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 2012; 26: 542-545.
8. Patnaik MM, Lasho TL, Hodnefield JM, et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood 2012; 119: 569-572.
9. Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet 2011; 44: 53-57.
10. Wu SJ, Kuo YY, Hou HA, et al. The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution. Blood 2012; 120: 3106-3111.
11. Makishima H, Visconte V, Sakaguchi H, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012; 119: 3203-3210.
12. Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood 2012; 119: 3578-3584.
13. Wu SJ, Tang JL, Lin CT, et al. Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. Am J Hematol 2013; 88: E277-E282.
14. Maciejewski JP, Padgett RA. Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol 2012; 158: 165-173.
15. Grimwade D, Hills RK, Moorman AV, et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010; 116: 354-365.
16. Kottaridis PD, Gale RE, Frew ME, et al. The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the first cycle of chemotherapy: analysis of 854 patients from the United Kingdom Medical Research Council AML 10 and 12 trials. Blood 2011; 98: 1752-1759.
17. Falini B, Mecucci C, Tiacci E, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 2005; 352: 254-266.
18. Lasho TL, Jimma T, Finke CM, 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.
19. Zhang SJ, Rampal R, Manshouri T, 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: 4480-4485.
20. Patnaik MM, Lasho TL, Finke CM, et al. Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance. Am J Hematol 2013; 88: 201-206.
21. Kar SA, Jankowska A, Makishima H, 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: 107-113.
22. Ramsay AJ, Rodriguez D, Villamor N, et al. Frequent somatic mutations in components of the RNA processing machinery in chronic lymphocytic leukemia. Leukemia 2013; 27: 1600-1603.
23. Rozovski U, Keating M, Estrov Z. The significance of spliceosome mutations in chronic lymphocytic leukemia. Leuk Lymphoma 2013; 54: 1364-1366.
24. Fernandez-Mercado M, Yip BH, Pellagatti A, et al. Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics. PLoS One 2012; 7: e42334.
25. Shih AH, Chung SS, Dolezal EK, et al. Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia. Haematologica 2013; 98: 908-912.
26. Voso MT, Fabiani E, Fianchi L, et al. Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases. Leukemia 2013; 27: 982-985.
27. Je EM, Yoo NJ, Kim YJ, et al. Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors. Int J Cancer 2013; 133: 260-266.
28. Devillier R, Gelsi-Boyer V, Brecqueville M, et al. Acute myeloid leukemia with myelodysplasia-related changes are characterized by a specific molecular pattern with high frequency of ASXL1 mutations. Am J Hematol 2012; 87: 659-662.
29. Weinberg OK, Seetharam M, Ren L, et al. Clinical characterization of acute myeloid leukemia with myelodysplasia-related changes as defined by the 2008 WHO classification system. Blood 2009; 113: 1906-1908.
30. Milosevic JD, Puda A, Malcovati L, et al. Clinical significance of genetic aberrations in secondary acute myeloid leukemia. Am J Hematol 2012; 87: 1010-1016.
31. Murati A, Brecqueville M, Devillier R, et al. Myeloid malignancies: mutations, models and management. BMC Cancer 2012; 12: 304.
32. Walter MJ, Shen D, Ding L, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med 2012; 366: 1090-1098.