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Not much is known about the molecular biology of this disease.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We studied a series of 30 CMML samples (13 MP- and 11 MD-CMMLs, and 6 acutely transformed cases) from 29 patients by using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Two-thirds of samples did not show any obvious alteration of aCGH profiles. In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. <jats:italic>NF1<\/jats:italic>, <jats:italic>RB1<\/jats:italic> and <jats:italic>CDK6<\/jats:italic>). <jats:italic>RAS<\/jats:italic> mutations were detected in 4 cases (including an uncommon codon 146 mutation in <jats:italic>KRAS<\/jats:italic>) and <jats:italic>PTPN11<\/jats:italic> mutations in 3 cases. We detected 11 <jats:italic>RUNX1<\/jats:italic> alterations (9 mutations and 2 rearrangements). The rearrangements were a new, cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of <jats:italic>RUNX1<\/jats:italic> to <jats:italic>USP16<\/jats:italic>. <jats:italic>RAS<\/jats:italic> and <jats:italic>RUNX1<\/jats:italic> alterations were not mutually exclusive. RAS pathway mutations occurred in MP-CMMLs (~46%) but not in MD-CMMLs. <jats:italic>RUNX1<\/jats:italic> alterations (mutations and cryptic rearrangement) occurred in both MP and MD classes (~38%).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>We detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic <jats:italic>USP16-RUNX1<\/jats:italic> fusion. In some samples, two alterations coexisted already at this early chronic stage.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-8-299","type":"journal-article","created":{"date-parts":[[2008,10,16]],"date-time":"2008-10-16T18:14:52Z","timestamp":1224180892000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":118,"title":["Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes"],"prefix":"10.1186","volume":"8","author":[{"given":"V\u00e9ronique","family":"Gelsi-Boyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Trouplin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Ad\u00e9la\u00efde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Aceto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Remy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Pinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Houdayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Arnoulet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Sainty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Bentires-Alj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylviane","family":"Olschwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Vey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jo\u00eblle","family":"Mozziconacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Birnbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Chaffanet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,10,16]]},"reference":[{"key":"1237_CR1","doi-asserted-by":"publisher","first-page":"2292","DOI":"10.1182\/blood-2002-04-1199","volume":"100","author":"JW Vardiman","year":"2002","unstructured":"Vardiman JW, Harris NL, Brunning RD: The world health classification (WHO) of myeloid neoplasms. 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