{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T20:50:19Z","timestamp":1789505419679,"version":"build-2803163510"},"reference-count":18,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2018,6,23]],"date-time":"2018-06-23T00:00:00Z","timestamp":1529712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Extraskeletal myxoid chondrosarcoma (EMC) is an extremely rare soft tissue sarcoma, marked by a translocation involving the NR4A3 gene. EMC is usually indolent and moderately sensitive to anthracycline-based chemotherapy. Recently, we reported on the therapeutic activity of sunitinib in a series of EMC cases, however the molecular target of sunitinib in EMC is unknown. Moreover, there is still the need to identify alternative therapeutic strategies. To better characterize this disease, we performed whole transcriptome sequencing in five EMC cases. Peculiarly, in one sample, an in-frame deletion (c.1735_1737delGAT p.D579del) was identified in exon 11 of KIT. The deletion was somatic and heterozygous and was validated both at DNA and mRNA level. This sample showed a marked high expression of KIT at the mRNA level and a mild phosphorylation of the receptor. Sanger sequencing of KIT in additional 15 Formalin Fixed Paraffin Embedded (FFPE) EMC did not show any other mutated cases. In conclusion, exon 11 KIT mutation was detected only in one out of 20 EMC cases analyzed, indicating that KIT alteration is not a recurrent event in these tumors and cannot explain the EMC sensitivity to sunitinib, although it is an actionable mutation in the individual case in which it has been identified.<\/jats:p>","DOI":"10.3390\/ijms19071855","type":"journal-article","created":{"date-parts":[[2018,6,25]],"date-time":"2018-06-25T11:03:25Z","timestamp":1529924605000},"page":"1855","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of an Actionable Mutation of KIT in a Case of Extraskeletal Myxoid Chondrosarcoma"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3364-9098","authenticated-orcid":false,"given":"Milena","family":"Urbini","sequence":"first","affiliation":[{"name":"\u201cGiorgio Prodi\u201d Cancer Research Center, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8854-3821","authenticated-orcid":false,"given":"Valentina","family":"Indio","sequence":"additional","affiliation":[{"name":"\u201cGiorgio Prodi\u201d Cancer Research Center, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-0747","authenticated-orcid":false,"given":"Annalisa","family":"Astolfi","sequence":"additional","affiliation":[{"name":"\u201cGiorgio Prodi\u201d Cancer Research Center, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6078-6856","authenticated-orcid":false,"given":"Giuseppe","family":"Tarantino","sequence":"additional","affiliation":[{"name":"\u201cGiorgio Prodi\u201d Cancer Research Center, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0186-1318","authenticated-orcid":false,"given":"Salvatore Lorenzo","family":"Renne","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Pilotti","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Paolo","family":"Dei Tos","sequence":"additional","affiliation":[{"name":"Department of Pathology, Treviso General Hospital, 31100 Treviso, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-5592","authenticated-orcid":false,"given":"Roberta","family":"Maestro","sequence":"additional","affiliation":[{"name":"Unit of Experimental Oncology 1, CRO Aviano National Cancer Institute, 33081 Aviano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Collini","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Nannini","sequence":"additional","affiliation":[{"name":"Department of Specialized, Experimental and Diagnostic Medicine, Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maristella","family":"Saponara","sequence":"additional","affiliation":[{"name":"Department of Specialized, Experimental and Diagnostic Medicine, Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Murrone","sequence":"additional","affiliation":[{"name":"\u201cGiorgio Prodi\u201d Cancer Research Center, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Paolo","family":"Dagrada","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Gronchi","sequence":"additional","affiliation":[{"name":"Department of Surgery, 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Abbondanza","family":"Pantaleo","sequence":"additional","affiliation":[{"name":"Department of Specialized, Experimental and Diagnostic Medicine, Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,6,23]]},"reference":[{"key":"ref_1","unstructured":"Fletcher, C.D.M., Unni, K.K., and Mertens, F. 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