Clonal architecture of chronic myelomonocytic leukemias

Blood

Volumn 121, Issue 12, 2013, Pages 2186-2198

  Itzykson, Raphaël ^a,b,c   Kosmider, Olivier ^d,e,f   Renneville, Aline ^a,g,h   Morabito, Margot ^a,b,c   Preudhomme, Claude ^a,g,h   Berthon, Céline ^g,h   Adès, Lionel ⁱ   Fenaux, Pierre ⁱ   Platzbecker, Uwe ^j   Gagey, Olivier ^k   Rameau, Philippe ^b   Meurice, Guillaume ^b   Oréar, Cédric ^b   Delhommeau, François ^a,b,l,m   Bernard, Olivier A ^b   Fontenay, Michaela ^d,e,f   Vainchenker, William ^a,b,c   Droin, Nathalie ^a,b,c   Solary, Eric ^a,b,c  

^a INSERM   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d université Paris Cité   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f INSTITUT COCHIN   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h UNIV LILLE   (France)

ⁱ AVICENNE HOSPITAL   (France)

^j UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^k BICÊTRE HOSPITAL   (France)

^l SORBONNE UNIVERSITÉ   (France)

^m HÔPITAL SAINT ANTOINE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; CD38 ANTIGEN; PEPTIDES AND PROTEINS; TET2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CELL DIFFERENTIATION; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; GRANULOCYTE; HEMATOPOIESIS; HETEROZYGOSITY LOSS; HUMAN; MALE; MIDDLE AGED; MONOCYTE; MYELODYSPLASTIC SYNDROME; MYELOID PROGENITOR CELL; MYELOPROLIFERATIVE NEOPLASM; PRIORITY JOURNAL; SINGLE CELL ANALYSIS; VERY ELDERLY; BONE MARROW CELL; CASE CONTROL STUDY; CLONAL EVOLUTION; COHORT ANALYSIS; GENETICS; IMMUNOLOGY; METABOLISM; MUTATION; MUTATION RATE; PATHOLOGY; PHYSIOLOGY;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CELL DIFFERENTIATION; CLONAL EVOLUTION; COHORT STUDIES; FEMALE; HEMATOPOIESIS; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; MYELOID CELLS;

MLCS; MLOWN;

EID: 84877928684     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-06-440347     Document Type: Article

References (47)

1. Greaves M, Maley CC. Clonal evolution in cancer. Nature. 2012;481(7381):306-313.
2. 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.
3. Stephens PJ, Greenman CD, Fu B, et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell. 2011;144(1):27-40.
4. Walter MJ, Shen D, Ding L, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med. 2012;366(12):1090-1098.
5. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
6. Meggendorfer M, Roller A, Haferlach T, et al. SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood. 2012; 120(15):3080-3088.
7. Jankowska AM, Makishima H, Tiu RV, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood. 2011;118(14): 3932-3941.
8. Bacher U, Haferlach T, Schnittger S, et al. Recent advances in diagnosis, molecular pathology and therapy of chronic myelomonocytic leukaemia. Br J Haematol. 2011;153(2):149-167.
9. Dunbar AJ, Gondek LP, O'Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
10. Levine RL, Loriaux M, Huntly BJ, et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood. 2005; 106(10):3377-3379.
11. Tyner JW, Erickson H, Deininger MW, et al. Highthroughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. Blood. 2009;113(8):1749-1755.
12. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
13. 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(1):107-113.
14. Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009; 145(6):788-800.
15. Abdel-Wahab O, Pardanani A, Patel J, et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia. 2011; 25(7):1200-1202.
16. Vainchenker W, Delhommeau F, Constantinescu SN, et al. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011; 118(7):1723-1735.
17. 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.
18. Beer PA, Delhommeau F, LeCouédic JP, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115(14):2891-2900.
19. Stein BL, Williams DM, O'Keefe C, et al. Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and postpolycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: Analysis of molecular genetics and clinical phenotypes. Haematologica. 2011;96(10):1462-1469.
20. Papaemmanuil E, Cazzola M, Boultwood J, et al. Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Somatic SF3B1mutation inmyelodysplasia with ring sideroblasts.NEngl J Med. 2011;365(15):1384-1395.
21. Braun T, Itzykson R, Renneville A, et al; Groupe Francophone des Myélodysplasies. Molecular predictors of response to decitabine in advanced chronic myelomonocytic leukemia: A phase 2 trial. Blood. 2011;118(14):3824-3831.
22. Dupont S, Massé A, James C, et al. The JAK2 617V.F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. Blood. 2007;110(3): 1013-1021.
23. Pronier E, Almire C, Mokrani H, et al. Inhibition of TET2-mediated conversion of 5-methylcytosine to 5-hydroxymethylcytosine disturbs erythroid and granulomonocytic differentiation of human hematopoietic progenitors. Blood. 2011;118(9): 2551-2555.
24. Kotecha N, Flores NJ, Irish JM, et al. Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates. Cancer Cell. 2008;14(4): 335-343.
25. Gaipa G, Bugarin C, Longoni D, et al. Aberrant GM-CSF signal transduction pathway in juvenile myelomonocytic leukemia assayed by flow cytometric intracellular STAT5 phosphorylation measurement. Leukemia. 2009;23(4):791-793.
26. Ramshaw HS, Bardy PG, Lee MA, et al. Chronic myelomonocytic leukemia requires granulocytemacrophage colony-stimulating factor for growth in vitro and in vivo. Exp Hematol. 2002;30(10): 1124-1131.
27. Smith AE, Mohamedali AM, Kulasekararaj A, et al. Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals lowabundance mutant clones with early origins, but indicates no definite prognostic value. Blood. 2010;116(19):3923-3932.
28. Langemeijer SM, Kuiper RP, Berends M, et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009; 41(7):838-842.
29. Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. Br J Haematol. 2011;152(6):677-687.
30. Nowell PC. The clonal evolution of tumor cell populations. Science. 1976;194(4260):23-28.
31. Notta F, Mullighan CG, Wang JC, et al. Evolution of human BCR-ABL1 lymphoblastic leukaemia-initiating cells. Nature. 2011; 469(7330):362-367.
32. Damm F, Fontenay M, Bernard OA. Point mutations in myelodysplastic syndromes. N Engl J Med. 2011;365(12):1154-1155, author reply 155.
33. Ashworth A, Lord CJ, Reis-Filho JS. Genetic interactions in cancer progression and treatment. Cell. 2011;145(1):30-38.
34. Stein BL, Williams DM, Rogers O, et al. Disease burden at the progenitor level is a feature of primary myelofibrosis: A multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients. Exp Hematol. 2011;39(1):95-101.
35. 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.
36. Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet. 2012;44(11):1179-1181.
37. Navin N, Kendall J, Troge J, et al. Tumour evolution inferred by single-cell sequencing. Nature. 2011; 472(7341):90-94.
38. Hou Y, Song L, Zhu P, et al. Single-cell exome sequencing and monoclonal evolution of a JAK2- negative myeloproliferative neoplasm. Cell. 2012; 148(5):873-885.
39. Sarrazin S, Mossadegh-Keller N, Fukao T, et al. MafB restricts M-CSF-dependent myeloid commitment divisions of hematopoietic stem cells. Cell. 2009;138(2):300-313.
40. Rieger MA, Hoppe PS, Smejkal BM, et al. Hematopoietic cytokines can instruct lineage choice. Science. 2009;325(5937):217-218.
41. Ko M, Bandukwala HS, An J, et al. Ten-Eleven- Translocation 2 (TET2) negatively regulates homeostasis and differentiation of hematopoietic stem cells in mice. Proc Natl Acad Sci USA. 2011; 108(35):14566-14571.
42. Quivoron C, Couronné L, Della Valle V, et al. TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell. 2011;20(1):25-38.
43. Elliott MA, Verstovsek S, Dingli D, et al. Monocytosis is an adverse prognostic factor for survival in younger patients with primary myelofibrosis. Leuk Res. 2007;31(11):1503-1509.
44. Muller-Sieburg CE, Sieburg HB, Bernitz JM, et al. Stem cell heterogeneity: Implications for aging and regenerative medicine. Blood. 2012;119(17): 3900-3907.
45. Wang SA, Galili N, Cerny J, et al. Chronic myelomonocytic leukemia evolving from preexisting myelodysplasia shares many features with de novo disease. Am J Clin Pathol. 2006; 126(5):789-797.
46. Boiocchi L, Espinal-Witter R, Geyer JT, et al. Development of monocytosis in patients with primary myelofibrosis indicates an accelerated phase of the disease. Mod Pathol. 2013;26(2):204-212.
47. Goardon N, Marchi E, Atzberger A, et al. Coexistence of LMPP-like and GMP-like leukemia stem cells in acute myeloid leukemia. Cancer Cell. 2011;19(1):138-152.