{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:06:36Z","timestamp":1791223596790,"version":"4.1.0"},"reference-count":55,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2009,7,14]],"date-time":"2009-07-14T00:00:00Z","timestamp":1247529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for developing a malignant peripheral nerve sheath tumor (MPNST) in NF1 patients is \u223c10% with poor survival rates. To date, the molecular basis of MPNST development remains unclear. Here, we report the first genome\u2010wide and high\u2010resolution analysis of DNA copy number alterations in MPNST using the 32K bacterial artificial chromosome microarray on a series of 24 MPNSTs and three neurofibroma samples. In the benign neurofibromas, apart from loss of one copy of the <jats:italic>NF1<\/jats:italic> gene and copy number polymorphisms, no other changes were found. The profiles of malignant samples, however, revealed specific loss of chromosomal regions including 1p35\u201033, 1p21, 9p21.3, 10q25, 11q22\u201023, 17q11, and 20p12.2 as well as gain of 1q25, 3p26, 3q13, 5p12, 5q11.2\u2010q14, 5q21\u201023, 5q31\u201033, 6p23\u2010p21, 6p12, 6q15, 6q23\u2010q24, 7p22, 7p14\u2010p13, 7q21, 7q36, 8q22\u2010q24, 14q22, and 17q21\u2010q25. Copy number gains were more frequent than deletions in the MPNST samples (62% vs. 38%). The genes resident within common regions of gain were <jats:italic>NEDL1<\/jats:italic> (7p14), <jats:italic>AP3B1<\/jats:italic> (5q14.1), and <jats:italic>CUL1<\/jats:italic> (7q36.1) and these were identified in &gt;63% MPNSTs. The most frequently deleted locus encompassed <jats:italic>CDKN2A<\/jats:italic>, <jats:italic>CDKN2B<\/jats:italic>, and <jats:italic>MTAP<\/jats:italic> genes on 9p21.3 (33% cases). These genes have previously been implicated in other cancer conditions and therefore, should be considered for their therapeutic, prognostic, and diagnostic relevance in NF1 tumorigenesis. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20695","type":"journal-article","created":{"date-parts":[[2009,7,14]],"date-time":"2009-07-14T20:15:03Z","timestamp":1247602503000},"page":"897-907","source":"Crossref","is-referenced-by-count":51,"title":["Genome\u2010wide high\u2010resolution analysis of DNA copy number alterations in NF1\u2010associated malignant peripheral nerve sheath tumors using 32K BAC array"],"prefix":"10.1002","volume":"48","author":[{"given":"Kiran K.","family":"Mantripragada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresita D\u00edaz","family":"de 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