Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia

Blood

Volumn 122, Issue 1, 2013, Pages 100-108

  Krönke, Jan ^a   Bullinger, Lars ^a   Teleanu, Veronica ^a   Tschürtz, Florian ^a   Gaidzik, Verena I ^a   Kühn, Michael W M ^a   Rücker, Frank G ^a   Holzmann, Karlheinz ^b   Paschka, Peter ^a   Kapp Schwörer, Silke ^a   Späth, Daniela ^a   Kindler, Thomas ^c   Schittenhelm, Marcus ^d   Krauter, Jürgen ^e   Ganser, Arnold ^e   Göhring, Gudrun ^e   Schlegelberger, Brigitte ^e   Schlenk, Richard F ^a   Döhner, Hartmut ^a   Döhner, Konstanze ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CD135 ANTIGEN; CYTARABINE; DNA METHYLTRANSFERASE 3A; FRAGILE HISTIDINE TRIAD PROTEIN; NUCLEOPHOSMIN; PROTEIN P53; TRANSCRIPTION FACTOR ETV6; WT1 PROTEIN; DNA (CYTOSINE 5) METHYLTRANSFERASE; NUCLEAR PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ALLOGENEIC STEM CELL TRANSPLANTATION; ARTICLE; AUTOLOGOUS STEM CELL TRANSPLANTATION; BLOOD SAMPLING; BONE MARROW; CANCER CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER IMMUNOTHERAPY; CANCER RECURRENCE; CHROMOSOME ANALYSIS; CLONAL EVOLUTION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA METHYLTRANSFERASE 3A GENE; DRUG MEGADOSE; ETV6 GENE; FEMALE; FLT3 GENE; FRAGILE HISTIDINE TRIAD GENE; GENE DELETION; GENE TP53; GENETIC PROCEDURES; GENETIC STABILITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INDUCTION CHEMOTHERAPY; INTENSIVE CARE; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MONOSOMY 7; MULTIMODALITY CANCER THERAPY; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NUCLEOPHOSMIN 1 GENE; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIMARY TUMOR; PRIORITY JOURNAL; SALVAGE THERAPY; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM ARRAY PROFILING; TREATMENT RESPONSE; TUMOR SUPPRESSOR GENE; UNIPARENTAL DISOMY; UPD13Q GENE; WT1 GENE; CHROMOSOME 13; CHROMOSOME 9; DNA FINGERPRINTING; GENETICS; MIDDLE AGED; PROGNOSIS; RECURRENT DISEASE; RISK FACTOR;

ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 9; CLONAL EVOLUTION; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA FINGERPRINTING; FEMALE; GENE DELETION; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RECURRENCE; RISK FACTORS; YOUNG ADULT;

EID: 84883730914     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-01-479188     Document Type: Article

References (44)

1. Falini B, Mecucci C, Tiacci E, et al GIMEMA Acute Leukemia Working Party. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352(3):254-266. (Pubitemid 40110814)
2. Fitzgibbon J, Smith LL, Raghavan M, et al. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res. 2005;65(20):9152-9154. (Pubitemid 41507976)
3. Bullinger L, Krönke J, Schön C, et al. Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis. Leukemia. 2010;24(2):438-449.
4. Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18(6):553-567.
5. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11):1058- 1066.
6. Paschka P, Schlenk RF, Gaidzik VI, et al. IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol. 2010;28(22):3636-3643.
7. Schlenk RF, Döhner K, Krauter J, et al German-Austrian Acute Myeloid Leukemia Study Group. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008;358(18):1909-1918. (Pubitemid 351620111)
8. Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012;150(2):264-278.
9. Jan M, Majeti R. Clonal evolution of acute leukemia genomes. Oncogene. 2013;32(2):135-140.
10. Döhner K, Schlenk RF, Habdank M, et al. Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations. Blood. 2005;106(12):3740-3746. (Pubitemid 41739007)
11. Verhaak RG, Goudswaard CS, van Putten W, et al. Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance. Blood. 2005;106(12):3747-3754. (Pubitemid 41739008)
12. Schnittger S, Schoch C, Kern W, et al. Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. Blood. 2005;106(12):3733-3739. (Pubitemid 41739006)
13. Falini B, Martelli MP, Bolli N, et al. Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity? Blood. 2011;117(4):1109-1120.
14. Swerdlow SH, Campo E, Harris NL, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008.
15. Bolli N, Galimberti S, Martelli MP, et al. Cytoplasmic nucleophosmin in myeloid sarcoma occurring 20 years after diagnosis of acute myeloid leukaemia. Lancet Oncol. 2006;7(4):350-352.
16. Schnittger S, Kern W, Tschulik C, et al. Minimal residual disease levels assessed by NPM1 mutation-specific RQ-PCR provide important prognostic information in AML. Blood. 2009;114(11):2220-2231.
17. Papadaki C, Dufour A, Seibl M, et al. Monitoring minimal residual disease in acute myeloid leukaemia with NPM1 mutations by quantitative PCR: clonal evolution is a limiting factor. Br J Haematol. 2009;144(4):517-523.
18. Krönke J, Schlenk RF, Jensen KO, et al. Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group. J Clin Oncol. 2011;29(19):2709-2716.
19. Suzuki T, Kiyoi H, Ozeki K, et al. Clinical characteristics and prognostic implications of NPM1 mutations in acute myeloid leukemia. Blood. 2005;106(8):2854-2861. (Pubitemid 41510764)
20. Greaves M, Maley CC. Clonal evolution in cancer. Nature. 2012;481(7381):306-313.
21. Testa JR, Mintz U, Rowley JD, Vardiman JW, Golomb HM. Evolution of karyotypes in acute nonlymphocytic leukemia. Cancer Res. 1979;39(9):3619-3627. (Pubitemid 10220169)
22. Estey E, Keating MJ, Pierce S, Stass S. Change in karyotype between diagnosis and first relapse in acute myelogenous leukemia. Leukemia. 1995;9(6):972-976.
23. Garson OM, Hagemeijer A, Sakurai M, et al. Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse. Cancer Genet Cytogenet. 1989;40(2):187-202. (Pubitemid 19235688)
24. Bacher U, Haferlach T, Alpermann T, et al. Comparison of cytogenetic clonal evolution patterns following allogeneic hematopoietic transplantation versus conventional treatment in patients at relapse of AML. Biol Blood Marrow Transplant. 2010;16(12):1649-1657.
25. Raghavan M, Smith LL, Lillington DM, et al. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia. Blood. 2008;112(3):814-821.
26. Nakano Y, Kiyoi H, Miyawaki S, et al. Molecular evolution of acute myeloid leukaemia in relapse: unstable N-ras and FLT3 genes compared with p53 gene. Br J Haematol. 1999;104(4):659-664. (Pubitemid 29143481)
27. Hou HA, Kuo YY, Liu CY, et al. DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications. Blood. 2012;119(2):559-568.
28. Chou WC, Lei WC, Ko BS, et al. The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia. 2011;25(2):246-253.
29. Shen Y, Zhu YM, Fan X, et al. Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia. Blood. 2011;118(20):5593-5603.
30. Kühn MW, Radtke I, Bullinger L, et al. Highresolution genomic profiling of adult and pediatric core-binding factor acute myeloid leukemia reveals new recurrent genomic alterations. Blood. 2012;119(10):e67-e75.
31. Parkin B, Ouillette P, Li Y, et al. Clonal evolution and devolution after chemotherapy in adult acute myelogenous leukemia. Blood. 2013;121(2):369-377.
32. Ding L, Ley TJ, Larson DE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 2012;481(7382):506-510.
33. 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.
34. Kayser S, Döhner K, Krauter J, et al German-Austrian AMLSG. The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML. Blood. 2011;117(7):2137-2145.
35. Shih LY, Huang CF, Wu JH, et al. Internal tandem duplication of FLT3 in relapsed acute myeloid leukemia: a comparative analysis of bone marrow samples from 108 adult patients at diagnosis and relapse. Blood. 2002;100(7):2387-2392.
36. McCormick SR, McCormick MJ, Grutkoski PS, et al. FLT3 mutations at diagnosis and relapse in acute myeloid leukemia: cytogenetic and pathologic correlations, including cuplike blast morphology. Arch Pathol Lab Med. 2010;134(8):1143-1151.
37. Chou WC, Hou HA, Chen CY, et al. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. Blood. 2010;115(14):2749-2754.
38. Schnittger S, Haferlach C, Ulke M, Alpermann T, Kern W, Haferlach T. IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. Blood. 2010;116(25):5486-5496.
39. Bowen DT, Frew ME, Hills R, et al. RAS mutation in acute myeloid leukemia is associated with distinct cytogenetic subgroups but does not influence outcome in patients younger than 60 years. Blood. 2005;106(6):2113-2119. (Pubitemid 41291728)
40. Jan M, Snyder TM, Corces-Zimmerman MR, et al. Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med. 2012;4(149):149ra118.
41. Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2012;44(1):23-31.
42. Anderson K, Lutz C, van Delft FW, et al. Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature. 2011;469(7330):356-361.
43. Mullighan CG, Phillips LA, Su X, et al. Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science. 2008;322(5906):1377- 1380. (Pubitemid 352775249)
44. Park TS, Cheong JW, Song J, Choi JR. Therapyrelated myelodysplastic syndrome with der(17) t(12;17)(q13;p13) as a new recurrent cytogenetic abnormality after treatment for chronic lymphocytic leukemia. Leuk Res. 2009;33(7):1001-1004.