Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Academic Article uri icon


  • Chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, is characterized by monocytic proliferation, dysplasia, and progression to acute myeloid leukemia. CMML has been associated with somatic mutations in diverse recently identified genes. We analyzed 72 well-characterized patients with CMML (N = 52) and CMML-derived acute myeloid leukemia (N = 20) for recurrent chromosomal abnormalities with the use of routine cytogenetics and single nucleotide polymorphism arrays along with comprehensive mutational screening. Cytogenetic aberrations were present in 46% of cases, whereas single nucleotide polymorphism array increased the diagnostic yield to 60%. At least 1 mutation was found in 86% of all cases; novel UTX, DNMT3A, and EZH2 mutations were found in 8%, 10%, and 5.5% of patients, respectively. TET2 mutations were present in 49%, ASXL1 in 43%, CBL in 14%, IDH1/2 in 4%, KRAS in 7%, NRAS in 4%, and JAK2 V617F in 1% of patients. Various mutant genotype combinations were observed, indicating molecular heterogeneity in CMML. Our results suggest that molecular defects affecting distinct pathways can lead to similar clinical phenotypes.

published proceedings

  • Blood

altmetric score

  • 3

author list (cited authors)

  • Jankowska, A. M., Makishima, H., Tiu, R. V., Szpurka, H., Huang, Y., Traina, F., ... Maciejewski, J. P.

citation count

  • 277

complete list of authors

  • Jankowska, Anna M||Makishima, Hideki||Tiu, Ramon V||Szpurka, Hadrian||Huang, Yun||Traina, Fabiola||Visconte, Valeria||Sugimoto, Yuka||Prince, Courtney||O'Keefe, Christine||Hsi, Eric D||List, Alan||Sekeres, Mikkael A||Rao, Anjana||McDevitt, Michael A||Maciejewski, Jaroslaw P

publication date

  • October 2011

published in