{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T21:41:39Z","timestamp":1794346899619,"version":"4.9.0"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    encodes a transcription factor that targets cell cycle regulators affecting stem cell proliferation.\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    gene fusions were initially described in pericytomas with a t[7;12] translocation and more recently in gastric plexiform fibromyxomas and gastroblastomas. This study describes the clinicopathologic, immunohistochemical, and molecular features of three intestinal-based neoplasms harboring\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    gene fusions. We studied three unique mesenchymal small bowel tumors. Paraffin embedded tumor tissues from these cases and 62 additional tumor samples that included a plexiform fibromyxoma were sequenced using a targeted RNAseq method to detect fusion events. The study patients included two women and one man who were 52, 80, and 22 years of age at the time of diagnosis. The tumors involved the submucosa and muscularis propria of the duodenum, jejunum, and ileum. All 3 tumors contained a proliferation of monotonous oval or spindle cells with scattered, somewhat dilated vessels. Two cases showed epithelioid structures such as glands, tubules, or nests. Immunohistochemical analysis revealed cytokeratin expression in the epithelioid components of both tumors displaying these features, and variable numbers of mesenchymal cells. Diffuse CD56 positivity was seen in the mesenchymal component of 2 tumors and desmin and smooth muscle actin staining in the other tumor. Immunostains for S-100 protein, DOG-1, and CD117 were negative in all cases.\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    fusions with different partner genes were detected in all tumors, and in the plexiform fibromyxoma, used as a control. Validation by fluorescence in situ hybridization was performed. None of the tumors have recurred or metastasize after surgery. We describe novel\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    fusions in 3 mesenchymal neoplasms of the small intestine, including 2 with biphenotypic features. Thus far, all cases have pursued indolent clinical courses. We propose the term \u201c\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    -rearranged enteric tumor\u201d to encompass this group of unique neoplasms of the small intestine that harbor\n                    <jats:italic toggle=\"yes\">GLI1<\/jats:italic>\n                    gene fusions and expand the spectrum of gastrointestinal neoplasms with these alterations.\n                  <\/jats:p>","DOI":"10.1097\/pas.0000000000001950","type":"journal-article","created":{"date-parts":[[2022,8,15]],"date-time":"2022-08-15T08:01:42Z","timestamp":1660550502000},"page":"65-73","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":35,"title":["GLI1-Rearranged Enteric Tumor"],"prefix":"10.1097","volume":"47","author":[{"given":"Jos\u00e9","family":"Jessurun","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Orr","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha N.","family":"McNulty","sequence":"additional","affiliation":[{"name":"Invitae, Boulder, CO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Hagen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussein","family":"Alnajar","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Wilkes","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Kudman","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majd","family":"Al Assaad","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Princesca","family":"Dorsaint","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine"},{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Ohara","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"},{"name":"Caryl and Israel Englander Institute for Precision Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenrry","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Mei","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Pathology, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny Zhaoying","family":"Xiang","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine"},{"name":"Department of Microbiology and Immunology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihui","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Sboner","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"},{"name":"Caryl and Israel Englander Institute for Precision Medicine"},{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Elemento","sequence":"additional","affiliation":[{"name":"Caryl and Israel Englander Institute for Precision Medicine"},{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda K.","family":"Yantiss","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rondell P.","family":"Graham","sequence":"additional","affiliation":[{"name":"Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Poizat","sequence":"additional","affiliation":[{"name":"Institut Paoli-Calmettes, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Miguel","family":"Mosquera","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"},{"name":"Caryl and Israel Englander Institute for Precision Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,8,15]]},"reference":[{"key":"R1-20250608","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1126\/science.3563490","article-title":"Identification of an amplified, highly expressed gene in a 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Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/PAS.0000000000001950","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,8]],"date-time":"2025-06-08T17:02:21Z","timestamp":1749402141000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/PAS.0000000000001950"}},"subtitle":["Expanding the Spectrum of Gastrointestinal Neoplasms With GLI1 Gene Fusions"],"short-title":[],"issued":{"date-parts":[[2022,8,15]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.1097\/pas.0000000000001950","relation":{},"ISSN":["0147-5185"],"issn-type":[{"value":"0147-5185","type":"print"}],"subject":[],"published":{"date-parts":[[2022,8,15]]}}}