{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:39:24Z","timestamp":1789011564397,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100022856","name":"Fondation Bergoni\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100022856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004099","name":"Ligue Contre le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Myofibromas are part of the pericytic tumour family, which includes myopericytomas, glomus tumours and angioleiomyomas. While they typically display benign behaviour when arising in the skin and subcutaneous tissues of the head and neck, rare aggressive variants have been reported, particularly those with visceral or intracranial involvement. The most frequently identified molecular alterations in myofibromas are\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      gain\u2010of\u2010function mutations, primarily single\u2010nucleotide substitutions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Herein, we report two cases of myofibroma: one aggressive case with central nervous system involvement in a newborn, exhibiting a monophasic morphology, and a second, subcutaneous case in an adult. RNA sequencing was performed on both tumours, and data analysis was conducted using a four\u2010pipeline fusion\u2010calling approach (Arriba, FusionCatcher, FusionMap and STAR\u2010Fusion). This analysis identified a novel somatic internal tandem duplication (ITD) in the\n                      <jats:italic>NOTCH3<\/jats:italic>\n                      gene, affecting exons 26 and 27, specifically involving the C\u2010terminal heterodimerization domain of the NOTCH3 receptor. Unsupervised hierarchical clustering demonstrated that myofibromas with ITDs segregate distinctly from conventional myofibromas and other pericytic tumours.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion and conclusion<\/jats:title>\n                    <jats:p>\n                      Our findings suggest that\n                      <jats:italic>NOTCH3<\/jats:italic>\n                      ITDs represent a novel oncogenic mechanism in pericytic tumour pathogenesis, likely driving constitutive activation of the NOTCH signalling pathway. Given the potential therapeutic relevance, particularly in aggressive or life\u2010threatening cases with CNS involvement, our findings highlight the importance of extensive molecular profiling. Targeted therapy with NOTCH inhibitors may represent a promising strategy in the management of aggressive cases of ITD\u2010driven pericytic tumours.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/his.70051","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T15:25:27Z","timestamp":1763652327000},"page":"922-927","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel\n                    <i>NOTCH3<\/i>\n                    alteration expanding the molecular spectrum of pericytic tumours: report of two cases"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9541-0202","authenticated-orcid":false,"given":"Irena Antonia","family":"Ungureanu","sequence":"first","affiliation":[{"name":"Department of Pathology Paris\u2010Saclay University, Versailles SQY University (UVSQ), Ambroise\u2010Par\u00e9 Hospital  Boulogne\u2010Billancourt France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megane","family":"Le Quang","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital of Bordeaux, Pellegrin Hospital  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rihab","family":"Azmani","sequence":"additional","affiliation":[{"name":"Bioinformatics, Data and Digital Health Department Bergoni\u00e9 Institute, Comprehensive Cancer Center  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Ancelle","sequence":"additional","affiliation":[{"name":"Bioinformatics, Data and Digital Health Department Bergoni\u00e9 Institute, Comprehensive Cancer Center  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Margot","sequence":"additional","affiliation":[{"name":"Medical Genetics Department University Hospital of Bordeaux  Bordeaux 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