JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia [9]

Leukemia

Volumn 21, Issue 2, 2007, Pages 367-369

  Zecca, M ^a   Bergamaschi, G ^b   Kratz, C ^c   Bergstraßer E ^d   Danesino, C ^a   De Filippi, P ^a   Hasle, H ^e   Lisini, D ^a   Locatelli, F ^a   Pession, A ^f   Sainati, L ^g   Stary J ^h   Trebo, M ⁱ   van den Heuvel Eibrink, M ^j   Wojcik D ^k   Niemeyer, C M ^c  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

^h UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

ⁱ ST ANNA CHILDREN S HOSPITAL   (Austria)

^j SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^k NONE   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; K RAS PROTEIN; N RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; UNCLASSIFIED DRUG;

BONE MARROW; CELL TRANSFORMATION; CHILD; CHILDHOOD LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; INFANT; LETTER; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MALIGNANT TRANSFORMATION; MYELOMONOCYTIC LEUKEMIA; NEUROFIBROMATOSIS; ONCOGENE K RAS; ONCOGENE N RAS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 33846479945     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404484     Document Type: Letter

References (14)

1. Niemeyer CM, Arico' M, Basso G, Biondi A, Cantu' Rajnoldi A, Creutzig U et al. Chronic myelomonocytic leukemia in childhood: A retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood 1997; 89: 3534-3543.
2. Locatelli F, Nollke P, Zecca M, Korthof E, Lanino E, Peters C et al. Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): Results of the EWOGMDS/EBMT trial. Blood 2005; 105: 410-419.
3. Flotho C, Valcamonica S, Mach-Pascual S, Schmahl G, Corral L, Ritterbach J et al. RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia 1999; 13: 32-37.
4. Le DT, Kong N, Zhu Y, Lauchle JO, Aiyigari A, Braun BS et al. Somatic inactivation of NF1 in hematopoietic cells results in a progressive myeloproliferative disorder. Blood 2004; 103: 4243-4250.
5. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003; 34: 148-150.
6. Mohi MG, Williams IR, Dearolf CR, Chan G, Kutok JL, Cohen S et al. Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations. Cancer Cell 2005; 7: 179-191.
7. Kralovics R, Passamonti F, Buser AS, Soon-Siog T, Tiedt R, Passweg JR et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790.
8. Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosomenegative CML, and megakaryocytic leukemia. Blood 2005; 106: 3370-3373.
9. Kratz CP, Boll S, Kontny U, Schrappe M, Niemeyer CM, Stanulla M. Mutational screening reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia. Leukemia 2006; 20: 381-383.
10. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ et al. Activating mutation in the thyrosine kinase JAK2 in polycythemia vera, essential thrombocytemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387-397.
11. Steensma DP, Dewald GG, Lasho TL, Powell HL, McClure RF, Levine RL et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both 'atypical' myeloproliferative disorders and myelodisplastic syndromes. Blood 2005; 106: 1207-1209.
12. Quelle FW, Sato N, Witthuhn BA, Inhorn RC, Eder M, Miyajima A et al. JAK2 associates with the beta chain of the receptors for granulocyte-macrophage colony-stimulating factor, and its activation requires the membrane-proximal region. Mol Cell Biol 1994; 14: 4335-4341.
13. Tono C, Xu G, Toki T, Takahaschi Y, Sasaki S, Terui K et al. JAK2 Val617Phe activating thyrosine kinase mutation in juvenile myelomonocytic leukemia. Leukemia 2005; 19: 1843-1844.
14. Chen CY, Lin LI, Tang JL, Tsay W, Chang HH, Yeh YC et al. Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. Leukemia 2006; 20: 1155-1194.