ArticleHead and neck pathology2020
YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal.
Article in Head and neck pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 55 citations in OpenAlex.
- Sinonasal POU2AF3 (COLCA2)-rearranged carcinomas: a study of 11 aggressive tumors with findings supporting classification as solid adenoid cystic carcinoma.Virchows Archiv : an international journal of pathology · 2026Article
- Skin-analogue primary poroid neoplasms of the head and neck with YAP1/WWTR1::MAML2/NUTM1 fusions: clinicopathologic and genetic spectrum of a novel tumor family delineated in a series of 10 cases.Virchows Archiv : an international journal of pathology · 2026Article
- RNA-Sequencing Reveals Two Subgroups of Eccrine Porocarcinomas and Poromas.Journal of cellular and molecular medicine · 2026Article
- Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome.Virchows Archiv : an international journal of pathology · 2026Article
- Expanding the spectrum of non-canonical NUT carcinoma: clinicopathological and molecular characterization ofFrontiers in oncology · 2026Article
- Beyond Hybrid Morphology: A Large Series of Fusion-Driven Benign Peripheral Nerve Sheath Tumors Including 5 Tumors With Novel Fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- MEIS1::NCOA1 Primitive Spindle Cell Sarcoma of the Kidney : Report of 7 Cases of a Distinctive Clinicopathologic Entity.The American journal of surgical pathology · 2025Article
- NUT carcinoma of the head and neck: A case report and literature review.Precision radiation oncology · 2024Review
- Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.Journal of cutaneous pathology · 2024Article
- Primary thyroid nuclear protein in testis carcinoma: a case report and literature review.Gland surgery · 2024Article
- Eccrine Poroma: Pathogenesis, New Diagnostic Tools and Association with Porocarcinoma-A Review.Diagnostics (Basel, Switzerland) · 2023Review
- Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.Virchows Archiv : an international journal of pathology · 2023Article
- CREB fusion-associated epithelioid mesenchymal neoplasms of the female adnexa: three cases documenting a novel location of an emerging entity and further highlighting an ambiguous misleading immunophenotype.Virchows Archiv : an international journal of pathology · 2023Article
- TIMP3::ALK fusions characterize a distinctive myxoid fibroblastic tumor of the vocal cords: a report of 7 cases.Virchows Archiv : an international journal of pathology · 2022Article
- Rapidly fatal SMARCA4-deficient undifferentiated sarcoma originating from hybrid hemosiderotic fibrolipomatous tumor/pleomorphic hyalinizing angiectatic tumor of the foot.Virchows Archiv : an international journal of pathology · 2022Article
- Intra-abdominal EWSR1/FUS-CREM-rearranged malignant epithelioid neoplasms: two cases of an emerging aggressive entity with emphasis on misleading immunophenotype.Virchows Archiv : an international journal of pathology · 2022Article
- Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.Cancers · 2022Review
- NUT Carcinoma: Clinicopathologic Features, Molecular Genetics and Epigenetics.Frontiers in oncology · 2022Review
- NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case.Virchows Archiv : an international journal of pathology · 2021Article
- Mesenchymal/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI/SNF-deficient tumors.Virchows Archiv : an international journal of pathology · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene fusions involving the NUTM1 gene (NUT) represent defining genetic markers of a highly aggressive carcinoma type with predilection for the midline structures of children and young adults, hence the original description as NUT midline carcinoma. Recent studies have increasingly documented involvement of the NUTM1 gene in the pathogenesis of other entities as well. We herein describe two cases of auditory canal carcinomas with features of porocarcinoma, both harboring a newly described YAP1-NUTM1 gene fusion. Patients were males aged 28 and 82 years who presented with slowly growing lesions in the external auditory canal. Histologic examination showed monomorphic basaloid and squamoid cells arranged into organoid solid aggregates, nests, ducts, small cysts, and focal pseudocribriform pattern with variable mitotic activity, infiltrative growth, and focal squamous differentiation, particularly in the most superficial part of the tumor. Immunohistochemistry revealed consistent reactivity for CK5, p63 and SOX10 and diffuse aberrant expression of TP53. CK7 expression was limited to a few luminal ductal cells. The androgen receptor and S100 were negative. Next generation sequencing (TruSight RNA fusion panel, Illumina) revealed the same YAP1-NUTM1 gene fusion in both tumors, which was subsequently confirmed by NUT-FISH and the monoclonal anti-NUT antibody. These cases represent a novel contribution to the spectrum of NUT-rearranged head and neck malignancies. This adnexal carcinoma variant should not be confused with the highly lethal NUT carcinoma based on NUT immunoreactivity alone.
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