Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Jul;25(7):1200-2.
doi: 10.1038/leu.2011.58. Epub 2011 Apr 1.

Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms

O Abdel-Wahab, A Pardanani, J Patel, M Wadleigh, T Lasho, A Heguy, M Beran, D G Gilliland, R L Levine, A Tefferi

Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms

O Abdel-Wahab et al. Leukemia. 2011 Jul.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Somatic mutational frequency of ASXL1 and EZH2 and co-occurrences with other mutations in 25 patients with CMML and 46 patients with PMF. Gene diagram of somatic mutations throughout the coding region of ASXL1 is displayed in (a) with exon 12 outlined in yellow. Use of paired-normal tissue and sequencing of all coding regions allowed identification of a number of novel somatic missense mutations (squares) in ASXL1 in addition to the well-described nonsense (triangles) and frameshift alterations (diamonds) in exon 12 (a). The specific mutations in EZH2 identified in PMF and CMML patients in this cohort is listed in b. ASXL1 is the most frequently mutated gene in these cohorts and there is frequent overlap of mutations in ASXL1 with TET2 mutations in CMML (c), but not in PMF (d).
See this image and copyright information in PMC

References

    1. Gelsi-Boyer V, Trouplin V, Roquain J, Adelaide J, Carbuccia N, Esterni B, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151:365–375. - PubMed
    1. Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet. 2010;42:722–726. - PubMed
    1. Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23:2183–2186. - PubMed
    1. Boultwood J, Perry J, Zaman R, Fernandez-Santamaria C, Littlewood T, Kusec R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24:1139–1145. - PubMed
    1. Szpurka H, Jankowska AM, Makishima H, Bodo J, Bejanyan N, Hsi ED, et al. Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations. Leuk Res. 2010;34:969–973. - PMC - PubMed

Publication types

MeSH terms