Activating mutations in human acute megakaryoblastic leukemia

Blood

Volumn 112, Issue 10, 2008, Pages 4220-4226

  Malinge, Se'bastien ^a,b   Ragu, Christine ^a,b   Della Valle, Veronique ^a   Pisani, Didier ^c,d   Constantinescu, Stefan N ^e   Perez, Christelle ^a,b   Villeval, Jean Luc ^c,d   Reinhardt, Dirk ^f   Landman Parker, Judith ^g   Michaux, Lucienne ^h   Dastugue, Nicole ⁱ   Baruchel, Andre' ^g   Vainchenker, William ^c,d   Bourquin, Jean Pierre ^j   Penard Lacronique, Virginie ^a,b,k   Bernard, Olivier A ^a,b,k  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT GUSTAVE ROUSSY   (France)

^d UNIVERSITÉ PARIS SACLAY   (France)

^e DE DUVE INSTITUTE   (Belgium)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^h CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁱ Laboratoire d'He'matologie   (France)

^j Universitats Kinderklinik   (Switzerland)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FLT3 LIGAND; JANUS KINASE 2; JANUS KINASE 3; PROTEIN TYROSINE KINASE; STEM CELL FACTOR; TUMOR PROTEIN;

ACUTE MEGAKARYOCYTIC LEUKEMIA; ADULT; AGED; ANIMAL CELL; ARTICLE; BONE MARROW TRANSPLANTATION; CHILD; DOWN SYNDROME; FEMALE; GENE; GENE ACTIVATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOUSE; MPL GENE; MYELOPROLIFERATIVE DISORDER; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; ANIMAL; BAGG ALBINO MOUSE; BIOSYNTHESIS; CANCER TRANSPLANTATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NEWBORN; TUMOR CELL LINE;

ADULT; AGED; ANIMALS; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; DOWN SYNDROME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; MALE; MICE; MICE, INBRED BALB C; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; NEOPLASM TRANSPLANTATION;

EID: 54049107944     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-01-136366     Document Type: Article

References (34)

1. Dastugue N, Lafage-Pochitaloff M, Pages MP, et al. Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Francais de Cytogenetique Hematologique (GFCH). Blood. 2002;100:618-626.
2. Paredes-Aguilera R, Romero-Guzman L, Lopez- Santiago N, Trejo RA. Biology, clinical, and hematologic features of acute megakaryoblastic leukemia in children. Am J Hematol. 2003;73:71-80.
3. Mesa RA, Li CY, Ketterling RP, Schroeder GS, Knudson RA, Tefferi A. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood. 2005;105:973-977.
4. Radaelli F, Mazza R, Curioni E, Ciani A, Pomati M, Maiolo AT. Acute megakaryocytic leukemia in essential thrombocythemia: an unusual evolution? Eur J Haematol. 2002;69:108-111.
5. Akahoshi M, Oshimi K, Mizoguchi H, Okada M, Enomoto Y, Watanabe Y. Myeloproliferative disorders terminating in acute megakaryoblastic leukemia with chromosome 3q26 abnormality. Cancer. 1987;60:2654-2661.
6. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006; 3:1140-1151.
7. Villeval JL, James C, Pisani DF, Casadevall N, Vainchenker W. New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. Semin Thromb Hemost. 2006; 32:341-351.
8. Chaligne' R, James C, Tonetti C, et al. Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. Blood. 2007; 110:3735-3743.
9. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006; 108:3472-3476.
10. Wechsler J, Greene M, McDevitt MA, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32:148-152.
11. Mercher T, Coniat MB, Monni R, et al. Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. Proc Natl Acad Sci U S A. 2001;98:5776-5779.
12. Ma Z, Morris SW, Valentine V, et al. Fusion of two novel genes, RBM15 and MKL1, in the t(1; 22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet. 2001;28:220-221.
13. Mercher T, Busson-Le Coniat M, Nguyen Khac F, et al. Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7. Genes Chromosomes Cancer. 2002;33:22-28.
14. Vyas P, Crispino JD. Molecular insights into Down syndrome-associated leukemia. Curr Opin Pediatr. 2007;19:9-14.
15. Hollanda LM, Lima CS, CunhaAF, et al.An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet. 2006;38:807-812.
16. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005;37: 613-619.
17. Fröhling S, Scholl C, Gilliland DG, Levine RL. Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol. 2005;23:6285- 6295.
18. Fröhling S, Scholl C, Levine RL, et al. Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles. Cancer Cell. 2007;12:501-513.
19. Hirose Y, Kudo K, Kiyoi H, Hayashi Y, Naoe T, Kojima S. Comprehensive analysis of gene alterations in acute megakaryoblastic leukemia of Down's syndrome. Leukemia. 2003;17:2250-2252.
20. Kiyoi H, Naoe T, Nakano Y, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999;93:3074-3080.
21. Walters DK, Mercher T, Gu TL, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell. 2006;10:65-75.
22. Mercher T, Wernig G, Moore SA, et al. JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model. Blood. 2006;108: 2770-2779.
23. Gu TL, Mercher T, Tyner JW, et al. A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia. Blood. 2007;110:323-333.
24. Hama A, Yagasaki H, Takahashi Y, Matsumoto K, Kiyoi H, Kojima S. Mutations of JAK2, JAK3 and GATA1 in acute megakaryoblastic leukemia of Down syndrome. Blood. 2008;111:2493-2494.
25. Bourquin JP, Subramanian A, Langebrake C, et al. Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A. 2006;103:3339-3344.
26. Malinge S, Ben-Abdelali R, Settegrana C, et al. Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia. Blood. 2007;109:2202-2204.
27. Su X, Drabkin H, Clappier E, et al. Transforming potential of the T-cell acute lymphoblastic leukemia- associated homeobox genes HOXA13, TLX1, and TLX3. Genes Chromosomes Cancer. 2006;45:846-855.
28. Miura N, Sato T, Fuse A, et al. Establishment of a new human megakaryoblastic cell line, CMY, with chromosome 17p abnormalities. Int J Mol Med. 1998;1:559-563.
29. Sato T, Fuse A, Eguchi M, et al. Establishment of a human leukaemic cell line (CMK) with megakaryocytic characteristics from a Down's syndrome patient with acute megakaryoblastic leukaemia. Br J Haematol. 1989;72:184-190.
30. De Vita S, Mulligan C, McElwaine S, et al. Loss-offunction JAK3 mutations in TMD andAMKLof Down syndrome. Br J Haematol. 2007;137:337-341.
31. Kiyoi H, Yamaji S, Kojima S, Naoe T. JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. Leukemia. 2007;21:574-576.
32. Ganmore I, Bercovich D, Scott LM, et al. Collaboration between activating mutations in JAK2 and trisomy 21 in the acute lymphoblastic leukemias of Down syndrome (DS) [abstract]. Blood. 2007; 110:Abstract.
33. Norton A, Fisher C, Liu H, et al. Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome. Blood. 2007;110:1077-1079.
34. Staerk J, Lacout C, Sato T, Smith SO, VainchenkerW, Constantinescu SN.An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor. Blood. 2006;107:1864-1871.