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CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in &gt;90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7\/del(7q), trisomy 21 and del(20q), with the Mayo\u2013French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (<jats:italic>TET2<\/jats:italic> ~60%), modulators of chromatin (<jats:italic>ASXL1<\/jats:italic> ~40%), spliceosome components (<jats:italic>SRSF2<\/jats:italic> ~50%), transcription factors (<jats:italic>RUNX1<\/jats:italic> ~15%) and signal pathways (<jats:italic>RAS<\/jats:italic> ~30%, <jats:italic>CBL<\/jats:italic> ~15%). Of these, thus far, only nonsense and frameshift <jats:italic>ASXL1<\/jats:italic> mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of <jats:italic>ASXL1<\/jats:italic> mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Fran\u00e7ais des My\u00e9lodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals.<\/jats:p>","DOI":"10.1038\/bcj.2016.5","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T14:20:58Z","timestamp":1454682058000},"page":"e393-e393","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":118,"title":["Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia"],"prefix":"10.1038","volume":"6","author":[{"given":"M M","family":"Patnaik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Tefferi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,2,5]]},"reference":[{"key":"BFbcj20165_CR1","unstructured":"Swederlow S, Camp E, Harris NL, Jaffe ES, Stefano PA, Stein H, et al. 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