RUNX1 mutations are rare in chronic phase polycythaemia vera

British Journal of Haematology

Volumn 153, Issue 5, 2011, Pages 672-675

  Butcher, Carolyn M ^a   Neufing, Petra J ^a,b   Eriksson, Lena ^a,b   Carmichael, Catherine L ^c,d   Wilkins, Ella J ^c   Melo, Junia V ^b,e,f   Lewis, Ian D ^b,e   Bardy, Peter G ^a   Scott, Hamish S ^b,c,f,g   D'Andrea, Richard J ^a,b,e,f  

^a QUEEN ELIZABETH HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Division of Haematology   (Australia)

^f CENTRE FOR CANCER BIOLOGY   (Australia)

^g NONE   (Australia)

Author keywords

JAK2; Leukaemia; Myeloproliferative neoplasms; RUNX1

Indexed keywords

GENOMIC DNA; JANUS KINASE 2; TRANSCRIPTION FACTOR RUNX1;

CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; LETTER; MOLECULAR PATHOLOGY; MONONUCLEAR CELL; MUTATION RATE; MUTATIONAL ANALYSIS; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION;

CHRONIC DISEASE; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DISEASE PROGRESSION; HUMANS; JANUS KINASE 2; LEUKEMIA; MUTATION; POLYCYTHEMIA VERA;

EID: 79955738419     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08589.x     Document Type: Letter

References (10)

1. Abdel-Wahab, O., Manshouri, T., Patel, J., Harris, K., Yao, J., Hedvat, C., Heguy, A., Bueso-Ramos, C., Kantarjian, H., Levine, R.L. & Verstovsek, S. (2010) Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Research, 70, 447-452.
2. Abdulkarim, K., Girodon, F., Johansson, P., Maynadie, M., Kutti, J., Carli, P.M., Bovet, E. & Andreasson, B. (2009) AML transformation in 56 patients with Ph- MPD in two well defined populations. European Journal of Haematology, 82, 106-111.
3. Beer, P.A., Delhommeau, F., Lecouedic, J.P., Dawson, M.A., Chen, E., Bareford, D., Kusec, R., McMullin, M.F., Harrison, C.N., Vannucchi, A.M., Vainchenker, W. & Green, A.R. (2010) Two routes to leukemic transformation following a JAK2 mutation-positive myeloproliferative neoplasm. Blood, 115, 2891-2900.
4. Butcher, C.M., Hahn, U., To, L.B., Gecz, J., Wilkins, E.J., Scott, H.S., Bardy, P.G. & D'Andrea, R.J. (2008) Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia, 22, 870-873.
5. Ding, Y., Harada, Y., Imagawa, J., Kimura, A. & Harada, H. (2009) AML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms. Blood, 114, 5201-5205.
6. Harada, H., Harada, Y., Tanaka, H., Kimura, A. & Inaba, T. (2003) Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood, 101, 673-680.
7. Harada, H., Harada, Y., Niimi, H., Kyo, T., Kimura, A. & Inaba, T. (2004) High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood, 103, 2316-2324.
8. Pabst, T. & Mueller, B.U. (2007) Transcriptional dysregulation during myeloid transformation in AML. Oncogene, 26, 6829-6837.
9. Tefferi, A. (2010) Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia, 24, 1128-1138.
10. Wang, W., Schwemmers, S., Hexner, E.O. & Pahl, H.L. (2010) AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. Blood, 116, 254-266.