Acute myeloid leukemia ontogeny is defined by distinct somatic mutations

Blood

Volumn 125, Issue 9, 2015, Pages 1367-1376

  Lindsley, R Coleman ^a   Mar, Brenton G ^a   Mazzola, Emanuele ^a   Grauman, Peter V ^b   Shareef, Sarah ^b   Allen, Steven L ^c   Pigneux, Arnaud ^d   Wetzler, Meir ^e   Stuart, Robert K ^f   Erba, Harry P ^g   Damon, Lloyd E ^h   Powell, Bayard L ⁱ   Lindeman, Neal ^b   Steensma, David P ^a   Wadleigh, Martha ^a   DeAngelo, Daniel J ^a   Neuberg, Donna ^a   Stone, Richard M ^a   Ebert, Benjamin L ^b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c DONALD AND BARBARA ZUCKER SCHOOL OF MEDICINE AT HOFSTRA NORTHWELL   (United States)

^d HAUT LÉVÊQUE HOSPITAL   (France)

^e ROSWELL PARK CANCER INSTITUTE   (United States)

^f MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ WAKE FOREST BAPTIST HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKYLATING AGENT; ANTINEOPLASTIC AGENT; ANTINEOPLASTIC METAL COMPLEX; ASXL1 PROTEIN; B RAF KINASE; CCAAT ENHANCER BINDING PROTEIN ALPHA; CD135 ANTIGEN; COMPLEMENTARY DNA; DNA METHYLTRANSFERASE 3A; GNAS PROTEIN; GYRASE INHIBITOR; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; MPL PROTEIN; NUCLEOPHOSMIN; PROTEIN; PROTEIN P53; SETBP1 PROTEIN; SF3B1 PROTEIN; SRSF2 PROTEIN; STAT3 PROTEIN; STEM CELL FACTOR RECEPTOR; TET2 PROTEIN; TRANSCRIPTION FACTOR EZH2; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1; U2AF1 PROTEIN; UNCLASSIFIED DRUG; ZRSR2 PROTEIN; ASXL1 PROTEIN, HUMAN; BCOR PROTEIN, HUMAN; CELL NUCLEUS ANTIGEN; EZH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; ONCOPROTEIN; PHOSPHOPROTEIN; POLYCOMB REPRESSIVE COMPLEX 2; REPRESSOR PROTEIN; RIBONUCLEOPROTEIN; SF3B1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SRSF2 PROTEIN, HUMAN; STAG2 PROTEIN, HUMAN; TUMOR MARKER; U2AF1 PROTEIN, HUMAN; ZRSR2 PROTEIN, HUMAN;

ACUTE MYELOBLASTIC LEUKEMIA; ARTICLE; CANCER SURVIVAL; DE NOVO ACUTE MYELOID LEUKEMIA; DNA SEQUENCE; EVENT FREE SURVIVAL; GENE FREQUENCY; GENETIC ASSOCIATION; HUMAN; HUMAN GENOME; LEUKEMIA REMISSION; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SOMATIC MUTATION; CANCER STAGING; FOLLOW UP; GENETICS; LEUKEMIA, MYELOID, ACUTE; MORTALITY; MUTATION; NEOPLASMS, SECOND PRIMARY; NUCLEOTIDE SEQUENCE; PROGNOSIS; PROSPECTIVE STUDY; REMISSION; SURVIVAL RATE;

ANTIGENS, NUCLEAR; BIOMARKERS, TUMOR; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; HUMANS; LEUKEMIA, MYELOID, ACUTE; MUTATION; NEOPLASM STAGING; NEOPLASMS, SECOND PRIMARY; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYCOMB REPRESSIVE COMPLEX 2; PROGNOSIS; PROSPECTIVE STUDIES; PROTO-ONCOGENE PROTEINS; REMISSION INDUCTION; REPRESSOR PROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RIBONUCLEOPROTEINS; SURVIVAL RATE;

EID: 84961554506     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-11-610543     Document Type: Article

References (31)

1. Churpek JE, Larson RA. The evolving challenge of therapy-related myeloid neoplasms. Best Pract Res Clin Haematol. 2013;26(4):309-317.
2. Patel JP, Gönen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012;366(12):1079-1089.
3. Pfirrmann M, Ehninger G, Thiede C, et al; Study Alliance Leukaemia (SAL). Prediction of post-remission survival in acute myeloid leukaemia: a post-hoc analysis of the AML96 trial. Lancet Oncol. 2012;13(2):207-214.
4. Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22):2059-2074.
5. Kantarjian H, O'Brien S, Cortes J, et al. Results of intensive chemotherapy in 998 patients age 65 years or older with acute myeloid leukemia or high-risk myelodysplastic syndrome: predictive prognostic models for outcome. Cancer. 2006;106(5):1090-1098.
6. Papaemmanuil E, Gerstung M, Malcovati L, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616-3627, quiz 3699.
7. Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28(2):241-247.
8. Itzykson R, Kosmider O, Renneville A, et al. Clonal architecture of chronic myelomonocytic leukemias. Blood. 2013;121(12):2186-2198.
9. Walter MJ, Shen D, Ding L, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med. 2012;366(12):1090-1098.
10. Itzhar N, Dessen P, Toujani S, et al. Chromosomal minimal critical regions in therapy-related leukemia appear different from those of de novo leukemia by high-resolution aCGH. PLoS ONE. 2011;6(2):e16623.
11. Stone RM, Mazzola E, Neuberg D, et al. A phase III open label randomized study of cytarabine in combination with amonafide L-malate or daunorubicin as induction therapy for patients with secondary acute myeloid leukemia (AML). J Clin Oncol. In press.
12. Shaffer LG, McGowan-Jordan J, Schmid M, eds. ISCN 2013: An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S. Karger; 2013.
13. 1000 Genomes Project Consortium. Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
14. Andreasen C, Nielsen JB, Refsgaard L, et al. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013;21(9):918-928.
15. Forbes SA, Bhamra G, Bamford S, et al. The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr Protoc Hum Genet. 2008;57:10.11.1-10.11.26.
16. Wagle N, Berger MF, Davis MJ, et al. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2012;2(1):82-93.
17. Walter MJ, Shen D, Shao J, et al. Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia. 2013;27(6):1275-1282.
18. Rücker FG, Schlenk RF, Bullinger L, et al. TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. Blood. 2012;119(9):2114-2121.
19. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-2506.
20. Vardiman JW, Thiele J, Arber DA, 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(5):937-951.
21. Pedersen-Bjergaard J, Christiansen DH, Desta F, Andersen MK. Alternative genetic pathways and cooperating genetic abnormalities in the pathogenesis of therapy-related myelodysplasia and acute myeloid leukemia. Leukemia. 2006;20(11):1943-1949.
22. Pedersen-Bjergaard J, Pedersen M, Roulston D, Philip P. Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia. Blood. 1995;86(9):3542-3552.
23. Juliusson G, Antunovic P, Derolf A, et al. Age and acute myeloid leukemia: real world data on decision to treat and outcomes from the Swedish Acute Leukemia Registry. Blood. 2009;113(18):4179-4187.
24. Appelbaum FR, Gundacker H, Head DR, et al. Age and acute myeloid leukemia. Blood. 2006;107(9):3481-3485.
25. Anderson JE, Kopecky KJ, Willman CL, et al. Outcome after induction chemotherapy for older patients with acute myeloid leukemia is not improved with mitoxantrone and etoposide compared to cytarabine and daunorubicin: a Southwest Oncology Group study. Blood. 2002;100(12):3869-3876.
26. Goldstone AH, Burnett AK, Wheatley K, Smith AG, Hutchinson RM, Clark RE; Medical Research Council Adult Leukemia Working Party. Attempts to improve treatment outcomes in acute myeloid leukemia (AML) in older patients: the results of the United Kingdom Medical Research Council AML11 trial. Blood. 2001;98(5):1302-1311.
27. Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488-2498.
28. Genovese G, Kähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477-2487.
29. Fearon ER, Burke PJ, Schiffer CA, Zehnbauer BA, Vogelstein B. Differentiation of leukemia cells to polymorphonuclear leukocytes in patients with acute nonlymphocytic leukemia. N Engl J Med. 1986;315(1):15-24.
30. Gale RE, Wheadon H, Goldstone AH, Burnett AK, Linch DC. Frequency of clonal remission in acute myeloid leukaemia. Lancet. 1993;341(8838):138-142.
31. Jacobson RJ, Temple MJ, Singer JW, Raskind W, Powell J, Fialkow PJ. A clonal complete remission in a patient with acute nonlymphocytic leukemia originating in a multipotent stem cell. N Engl J Med. 1984;310(23):1513-1517.