{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:34:32Z","timestamp":1790660072076,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,8,20]],"date-time":"2018-08-20T00:00:00Z","timestamp":1534723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A wait and see approach for desmoid tumors (DT) has become part of the routine treatment strategy. However, predictive factors to select the risk of progressive disease are still lacking. A translational project was run in order to identify genomic signatures in patients enrolled within an Italian prospective observational study. Among 12 DT patients (10<jats:italic>CTNNB1<\/jats:italic>\u2010mutated and 2 wild type) enrolled from our institution only two patients (17%) showed a progressive disease. Tumor biopsies were collected for whole exome sequencing. Overall, DT exhibited low somatic sequence mutation rate and no additional recurrent mutation was found. In the two wild type (WT) cases, two novel alterations were detected: a complex deletion of<jats:italic>APC<\/jats:italic>and a pathogenic mutation of<jats:italic>LAMTOR2<\/jats:italic>. Focusing on WT DT subtype, deep sequencing of<jats:italic>CTNNB1, APC<\/jats:italic>and<jats:italic>LAMTOR2<\/jats:italic>was conducted on a retrospective series of 11 WT DT using a targeted approach. No other mutation of<jats:italic>LAMTOR2<\/jats:italic>was detected, while<jats:italic>APC<\/jats:italic>was mutated in two cases. Low\u2010frequency (mean reads of 16%)<jats:italic>CTNNB1<\/jats:italic>mutations were discovered in five samples (45%) and two novel intra\u2010genic deletions in<jats:italic>CTNNB1<\/jats:italic>were detected in two cases. Both deletions and low frequency mutations of<jats:italic>CTNNB1<\/jats:italic>were highly expressed. In conclusion, a minority of DT is WT for either<jats:italic>CTNNB1, APC<\/jats:italic>or any other gene involved in the WNT pathway. In this subgroup novel and hard to be detected molecular alterations in<jats:italic>APC<\/jats:italic>and<jats:italic>CTNNB1<\/jats:italic>were discovered, contributing to explain a portion of the allegedly WT DT cases.<\/jats:p>","DOI":"10.1002\/gcc.22644","type":"journal-article","created":{"date-parts":[[2018,6,14]],"date-time":"2018-06-14T11:29:04Z","timestamp":1528975744000},"page":"495-503","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel intra\u2010genic large deletions of<i>CTNNB1<\/i>gene identified in WT desmoid\u2010type fibromatosis"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8031-5528","authenticated-orcid":false,"given":"Chiara","family":"Colombo","sequence":"first","affiliation":[{"name":"Department of Surgery Fondazione IRCCS Istituto Nazionale dei Tumori Milano 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