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. 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

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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

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