{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T17:06:37Z","timestamp":1792688797483,"version":"4.5.0"},"reference-count":26,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"unspecified","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,18]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>Recurrent fusions involving neurotrophin tyrosine receptor kinase (NTRK) genes have been increasingly recognised in spindle cell tumours of somatic soft tissues due to the widespread use of RNA-based sequencing techniques. This heterogeneous group of neoplasms is included as an emerging entity in the current <jats:italic>WHO Classification of Soft Tissue and Bone Tumors<\/jats:italic>. A subset of these tumours, associated with NTRK1 fusions, displays a distinctive phenotype in the form of monomorphic cytomorphology, patternless arrangement, perivascular and stromal hyalinisation, and CD34+\/S100+\/SOX10\u2212 immunoprofile. Gastrointestinal tract counterparts have been recently described with emphasis on distinction from <jats:italic>KIT\/PDGFRA\/BRAF\/RAS<\/jats:italic> wild-type gastrointestinal stromal tumours (GIST). Here, we present a recently encountered intestinal spindle cell neoplasm harbouring an <jats:italic>LMNA::NTRK1<\/jats:italic> gene fusion in a woman in her early 20s, which was initially thought to represent a GIST or a solitary fibrous tumour. Awareness of this emerging tumour type in the gastrointestinal tract is important due to treatment implications.<\/jats:p>","DOI":"10.1136\/bcr-2022-251270","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T10:00:14Z","timestamp":1668074414000},"page":"e251270","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Intestinal <i>LMNA::NTRK1<\/i>-fused spindle cell neoplasm with S100 and CD34 coexpression: a new case"],"prefix":"10.1136","volume":"15","author":[{"given":"Shabina","family":"Rahim","sequence":"first","affiliation":[{"name":"Department of Pathology, Al Sabah Hospital, Shuwaikh, Al Asimah, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saif Sabah","family":"Alkhaldi","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Al Sabah Hospital, Shuwaikh, Al Asimah, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaledah","family":"Alasousi","sequence":"additional","affiliation":[{"name":"Department of Radiology, Al Sabah Hospital, Shuwaikh, Al Asimah, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5747-8900","authenticated-orcid":false,"given":"Rola H","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pathology, Al Sabah Hospital, Shuwaikh, Al Asimah, Kuwait"},{"name":"Department of Pathology, Kuwait University, Safat, Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"2025082712074368000_15.11.e251270.1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-14-0765"},{"key":"2025082712074368000_15.11.e251270.2","doi-asserted-by":"publisher","DOI":"10.1038\/s41571-018-0113-0"},{"key":"2025082712074368000_15.11.e251270.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2019.03.008"},{"key":"2025082712074368000_15.11.e251270.4","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1097\/PAS.0000000000000677","article-title":"Etv6-Ntrk3 is expressed in a subset of ALK-negative inflammatory myofibroblastic tumors","volume":"40","author":"Alassiri","year":"2016","journal-title":"Am J Surg Pathol"},{"key":"2025082712074368000_15.11.e251270.5","doi-asserted-by":"crossref","DOI":"10.1186\/s12967-016-1075-6","article-title":"FGFR1 and NTRK3 actionable alterations in 'Wild-Type' gastrointestinal stromal tumors","volume":"14","author":"Shi","year":"2016","journal-title":"J Transl Med"},{"key":"2025082712074368000_15.11.e251270.6","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/path.4677","article-title":"Transcriptome sequencing identifies ETV6-NTRK3 as a gene fusion involved in GIST","volume":"238","author":"Brenca","year":"2016","journal-title":"J Pathol"},{"key":"2025082712074368000_15.11.e251270.7","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000675"},{"key":"2025082712074368000_15.11.e251270.8","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/gcc.22767","article-title":"The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements","volume":"58","author":"Suurmeijer","year":"2019","journal-title":"Genes Chromosomes Cancer"},{"key":"2025082712074368000_15.11.e251270.9","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22671"},{"key":"2025082712074368000_15.11.e251270.10","doi-asserted-by":"publisher","DOI":"10.1002\/path.4701"},{"key":"2025082712074368000_15.11.e251270.11","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001055"},{"key":"2025082712074368000_15.11.e251270.12","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1097\/PAS.0000000000001203","article-title":"Expanding the spectrum of pediatric NTRK-rearranged mesenchymal tumors","volume":"43","author":"Davis","year":"2019","journal-title":"Am J Surg Pathol"},{"key":"2025082712074368000_15.11.e251270.13","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/s41379-020-0623-z","article-title":"Mesenchymal tumors of the gastrointestinal tract with NTRK rearrangements: a clinicopathological, immunophenotypic, and molecular study of eight cases, emphasizing their distinction from gastrointestinal stromal tumor (GIST)","volume":"34","author":"Atiq","year":"2021","journal-title":"Mod Pathol"},{"key":"2025082712074368000_15.11.e251270.14","unstructured":"WHO . Classification of soft tissue and bone tumours. 5th edition. Lyon, France: IARC Press, 2020."},{"key":"2025082712074368000_15.11.e251270.15","unstructured":"WHO . Classification of Paediatric tumours [Internet; beta version ahead of print]. 5th edition. Lyon France: IARC Press, 2022."},{"key":"2025082712074368000_15.11.e251270.16","doi-asserted-by":"crossref","first-page":"e12","DOI":"10.1053\/j.gastro.2020.06.052","article-title":"Unusual colonic polyp in a young woman","volume":"160","author":"Bertolini","year":"2021","journal-title":"Gastroenterology"},{"key":"2025082712074368000_15.11.e251270.17","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1097\/PAI.0000000000000933","article-title":"Fluorescent in situ hybridization must be preferred to pan-Trk immunohistochemistry to diagnose NTRK3-rearranged gastrointestinal stromal tumors (GIST)","volume":"29","author":"Castillon","year":"2021","journal-title":"Appl Immunohistochem Mol Morphol"},{"key":"2025082712074368000_15.11.e251270.18","doi-asserted-by":"crossref","DOI":"10.3390\/cancers12030730","article-title":"Gastrointestinal stromal tumours (GIST) in young adult (18-40 years) patients: a report from the Dutch GIST registry","volume":"12","author":"IJzerman","year":"2020","journal-title":"Cancers"},{"key":"2025082712074368000_15.11.e251270.19","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2021.740676","article-title":"Case report: adult NTRK-rearranged spindle cell neoplasm: early tumor shrinkage in a case with bone and visceral metastases treated with targeted therapy","volume":"11","author":"Recine","year":"2021","journal-title":"Front Oncol"},{"key":"2025082712074368000_15.11.e251270.20","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/s41379-019-0324-7","article-title":"NTRK fusion detection across multiple assays and 33,997 cases: diagnostic implications and pitfalls","volume":"33","author":"Solomon","year":"2020","journal-title":"Mod Pathol"},{"key":"2025082712074368000_15.11.e251270.21","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001297"},{"key":"2025082712074368000_15.11.e251270.22","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1002\/gcc.22758","article-title":"S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion","volume":"58","author":"Michal","year":"2019","journal-title":"Genes Chromosomes Cancer"},{"key":"2025082712074368000_15.11.e251270.23","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1111\/his.13841","article-title":"Spindle cell tumour with S100 and CD34 co-expression showing PDZRN3-RAF1 rearrangement - a recently described entity","volume":"74","author":"Mok","year":"2019","journal-title":"Histopathology"},{"key":"2025082712074368000_15.11.e251270.24","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/gcc.22875","article-title":"A low-grade malignant soft tissue tumor with S100 and CD34 co-expression showing novel CDC42SE2-BRAF fusion with distinct features","volume":"59","author":"Sheng","year":"2020","journal-title":"Genes Chromosomes Cancer"},{"key":"2025082712074368000_15.11.e251270.25","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/his.13971","article-title":"Novel TFG-RET fusion in a spindle cell tumour with S100 and CD34 coexpresssion","volume":"76","author":"Loong","year":"2020","journal-title":"Histopathology"},{"key":"2025082712074368000_15.11.e251270.26","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1111\/cup.13926","article-title":"Spindle cell tumor with CD34 and S100 co-expression and distinctive stromal and perivascular hyalinization showing EML4-ALK fusion","volume":"48","author":"Abs","year":"2021","journal-title":"J Cutan Pathol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-251270","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:07:52Z","timestamp":1756321672000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-251270"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":26,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11,10]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1136\/bcr-2022-251270"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-251270","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}