{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T09:22:25Z","timestamp":1771233745697,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T00:00:00Z","timestamp":1326758400000},"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;amp; Cancer"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is a common, autosomal dominant, tumor\u2010predisposition syndrome that arises secondary to mutations in <jats:italic>NF1<\/jats:italic>. Glomus tumors are painful benign tumors that originate from the glomus body in the fingers and toes due to biallelic inactivation of <jats:italic>NF1<\/jats:italic>. We karyotyped cultures from four previously reported and one new glomus tumor and hybridized tumor (and matching germline) DNA on Illumina HumanOmni1\u2010Quad SNP arrays (\u223c1 \u00d7 10<jats:sup>6<\/jats:sup> SNPs). Two tumors displayed evidence of copy\u2010neutral loss of heterozygosity of chromosome arm 17q not observed in the germline sample, consistent with a mitotic recombination event. One of these two tumors, NF1\u2010G12, featured extreme polyploidy (near\u2010tetraploidy, near\u2010hexaploidy, or near\u2010septaploidy) across all chromosomes. In the remaining four tumors, there were few cytogenetic abnormalities observed, and copy\u2010number analysis was consistent with diploidy in all chromosomes. This is the first study of glomus tumors cytogenetics, to our knowledge, and the first to report biallelic inactivation of <jats:italic>NF1<\/jats:italic> secondary to mitotic recombination of chromosome arm 17q in multiple NF1\u2010associated glomus tumors. We have observed mitotic recombination in 22% of molecularly characterized NF1\u2010associated glomus tumors, suggesting that it is a not uncommon mechanism in the reduction to homozygosity of the <jats:italic>NF1<\/jats:italic> germline mutation in these tumors. In tumor NF1\u2010G12, we hypothesize that mitotic recombination also \u201cunmasked\u201d (reduced to homozygosity) a hypomorphic germline allele in a gene on chromosome arm 17q associated with chromosomal instability, resulting in the extreme polyploidy. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.21928","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T08:21:56Z","timestamp":1326788516000},"page":"429-437","source":"Crossref","is-referenced-by-count":26,"title":["Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of <i>NF1<\/i> in neurofibromatosis type 1\u2010associated glomus tumors"],"prefix":"10.1002","volume":"51","author":[{"given":"Douglas R.","family":"Stewart","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Pemov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Van Loo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eline","family":"Beert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Brems","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raf","family":"Sciot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Claes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgenia","family":"Pak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalia","family":"Dutra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chyi\u2010Chia","family":"Richard Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2007.10.022"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70033-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-09-1752"},{"key":"e_1_2_6_5_1","first-page":"3742","article-title":"Growth rates of normal and abnormal human mammary epithelia in cell culture","volume":"36","author":"Buehring GC","year":"1976","journal-title":"Cancer Res"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.080697.108"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2008.12.004"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1192280"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4419-6199-0_4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21387"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lungcan.2009.12.005"},{"key":"e_1_2_6_12_1","first-page":"1730","article-title":"Gene expression in the mouse eye: An online resource for genetics using 103 strains of mice","volume":"15","author":"Geisert EE","year":"2009","journal-title":"Mol Vis"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2718"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2005.07.006"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2009.07.004"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9896(200001)190:1<31::AID-PATH505>3.0.CO;2-#"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N"},{"key":"e_1_2_6_18_1","unstructured":"MitelmanF JohanssonB MertensF.2011.Mitelman database of chromosome aberrations and gene fusions in cancer. 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