{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T23:45:17Z","timestamp":1784072717952,"version":"3.55.0"},"reference-count":48,"publisher":"Harborside Press, LLC","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>Recurrent <jats:italic>GLI1<\/jats:italic> gene fusions have been recently described in a subset of soft tissue tumors showing a distinct monotonous epithelioid morphology with a rich capillary network and frequent S100 protein expression. Three different fusion partners\u2014<jats:italic>ACTB, MALAT1,<\/jats:italic> and <jats:italic>PTCH1<\/jats:italic>\u2014have been reported with the <jats:italic>PTCH1-GLI1<\/jats:italic> fusion from 2 patients only, both with head and neck tumors. Herein, we report for the first time a <jats:italic>PTCH1-GLI1<\/jats:italic> fusion in a primary ovarian tumor from a female patient aged 54 years who presented with a 21-cm right ovarian mass and mesenteric metastasis. The tumor was diagnosed as \u201cfavor malignant melanoma\u201d based on histologic examination and extensive immunohistochemistry studies. The patient received 4 cycles of pembrolizumab and 2 cycles of trabectedin but developed multiple metastases. A next-generation sequencing-based assay detected a <jats:italic>PTCH1-GLI1<\/jats:italic> fusion, which led to a revised pathologic diagnosis and a change of the patient\u2019s management. The patient was switched to the tyrosine kinase inhibitor (TKI) pazopanib to target the sonic hedgehog pathway. Her disease was stable 49 months post TKI therapy. Our case report is the first to show that a tumor with <jats:italic>GLI1<\/jats:italic> oncogenic activation was sensitive to a TKI. The morphologic and immunohistochemistry similarities of our patient\u2019s tumor to other recently described tumors harboring <jats:italic>GLI1<\/jats:italic> fusions suggest that these tumors may all belong to the same entity of <jats:italic>GLI1<\/jats:italic> fusion\u2013positive neoplasms and may be treated similarly.<\/jats:p>","DOI":"10.6004\/jnccn.2021.7058","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T18:04:00Z","timestamp":1632333840000},"page":"998-1004","source":"Crossref","is-referenced-by-count":31,"title":["PTCH1-GLI1 Fusion\u2013Positive Ovarian Tumor: Report of a Unique Case With Response to Tyrosine Kinase Inhibitor Pazopanib"],"prefix":"10.6004","volume":"19","author":[{"given":"Rofieda R.","family":"Alwaqfi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan I.","family":"Samuelson","sequence":"additional","affiliation":[{"name":"1Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalya N.","family":"Guseva","sequence":"additional","affiliation":[{"name":"1Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Ouyang","sequence":"additional","affiliation":[{"name":"2Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, Iowa."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron D.","family":"Bossler","sequence":"additional","affiliation":[{"name":"1Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deqin","family":"Ma","sequence":"additional","affiliation":[{"name":"1Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4047","reference":[{"key":"ref61","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1016\/S0002-9440(10)63723-6","article-title":"Activation of the GLI oncogene through fusion with the 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ovary","volume":"11","author":"Kim","year":"2020","journal-title":"Nat Commun"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"6790","DOI":"10.1158\/0008-5472.CAN-09-0886","article-title":"A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion","volume":"69","author":"Lo","year":"2009","journal-title":"Cancer Res"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"6790","DOI":"10.1158\/0008-5472.CAN-09-0886","article-title":"A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion","volume":"69","author":"Lo","year":"2009","journal-title":"Cancer Res"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1177\/1758834010366430","article-title":"Targeting the hedgehog pathway in cancer","volume":"2","author":"Gupta","year":"2010","journal-title":"Ther Adv Med Oncol"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/gcc.22432","article-title":"Anchored multiplex PCR for targeted next-generation sequencing reveals recurrent and novel USP6 fusions and upregulation of USP6 expression in aneurysmal bone cyst","volume":"56","author":"Guseva","year":"2017","journal-title":"Genes Chromosomes Cancer"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"6071","DOI":"10.1158\/0008-5472.CAN-04-0416","article-title":"Hedgehog signaling pathway is a new therapeutic target for patients with breast cancer","volume":"64","author":"Kubo","year":"2004","journal-title":"Cancer Res"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1038\/39918","article-title":"Activation of the transcription factor Gli1 and the sonic hedgehog signalling pathway in skin tumours","volume":"389","author":"Dahmane","year":"1997","journal-title":"Nature"}],"container-title":["Journal of the National Comprehensive Cancer 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