{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:22:48Z","timestamp":1791037368984,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T00:00:00Z","timestamp":1362441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Germline heterozygous alterations of the tumor\u2010suppressor gene <jats:italic>neurofibromatosis\u20101<\/jats:italic> (<jats:italic>NF1<\/jats:italic>) lead to neurofibromatosis type 1, a genetic disorder characterized by a higher risk to develop juvenile myelomonocytic leukemia and\/or acute myeloid leukemia (AML). More recently, somatic 17q11 deletions encompassing <jats:italic>NF1<\/jats:italic> have been described in many adult myeloid malignancies. In this context, we aimed to define <jats:italic>NF1<\/jats:italic> involvement in AML. We screened a total of 488 previously untreated de novo AML patients for the <jats:italic>NF1<\/jats:italic> deletion using either array comparative genomic hybridization (aCGH) or real\u2010time quantitative PCR\/fluorescence in situ hybridization approaches. We also applied massively parallel sequencing for in depth mutation analysis of <jats:italic>NF1<\/jats:italic> in 20 patients including five <jats:italic>NF1<\/jats:italic>\u2010deleted patients. We defined a small \u223c0.3 Mb minimal deleted region involving <jats:italic>NF1<\/jats:italic> by aCGH and an overall frequency of <jats:italic>NF1<\/jats:italic> deletion of 3.5% (17\/485). <jats:italic>NF1<\/jats:italic> deletion is significantly associated with unfavorable cytogenetics and with monosomal karyotype notably. We discovered six <jats:italic>NF1<\/jats:italic> variants of unknown significance in 7\/20 patients of which only one out of four disappeared in corresponding complete remission sample. In addition, only one out of five <jats:italic>NF1<\/jats:italic>\u2010deleted patients has an acquired coding mutation in the remaining allele. In conclusion, direct <jats:italic>NF1<\/jats:italic> inactivation is infrequent in de novo AML and may be a secondary event probably involved in leukemic progression. Am. J. Hematol. 88:306\u2013311, 2013. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.23403","type":"journal-article","created":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T06:48:13Z","timestamp":1360133293000},"page":"306-311","source":"Crossref","is-referenced-by-count":50,"title":["<i>Neurofibromatosis\u20101<\/i> gene deletions and mutations in de novo adult acute myeloid leukemia"],"prefix":"10.1002","volume":"88","author":[{"given":"Elise","family":"Boudry\u2010Labis","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics Jeanne de Flandre Hospital, CHRU of Lille Lille France"},{"name":"University of Lille North of France Lille France"},{"name":"Inserm U\u2010837, Team 3 Cancer Research Institute J. P. Aubert Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Roche\u2010Lestienne","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Jeanne de Flandre Hospital, CHRU of Lille Lille France"},{"name":"University of Lille North of France Lille France"},{"name":"Inserm U\u2010837, Team 3 Cancer Research Institute J. P. Aubert Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Nibourel","sequence":"additional","affiliation":[{"name":"University of Lille North of France Lille France"},{"name":"Inserm U\u2010837, Team 3 Cancer Research Institute J. P. 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P. Aubert Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Figeac","sequence":"additional","affiliation":[{"name":"University of Lille North of France Lille France"},{"name":"Functional Genomic Platform IFR 114, J. P. Aubert Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Lepr\u00eatre","sequence":"additional","affiliation":[{"name":"University of Lille North of France Lille France"},{"name":"Functional Genomic Platform IFR 114, J. P. Aubert Center Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Renneville","sequence":"additional","affiliation":[{"name":"University of Lille North of France Lille France"},{"name":"Inserm U\u2010837, Team 3 Cancer Research Institute J. P. 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