ArticleThe Journal of clinical investigation2019
Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.
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Who cites it
107 citing papers in PubMed, 1 synthesis or guideline pooled it, 226 citations in OpenAlex.
- Porocarcinoma: Clinical and Histological Features, Immunohistochemistry and Outcomes: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Cribriform tumors of the skin: CD38 expression distinguishes from histologic mimics in a multi-institutional series.Virchows Archiv : an international journal of pathology · 2026Article
- The acinar variant of poroma: a series of 3 cases with YAP1::NR4A3 fusion.Virchows Archiv : an international journal of pathology · 2026Article
- Thymus-like phenotype in benign lymphoepithelial neoplasms of salivary glands: clinicopathological and molecular characterization and reappraisal of relationship to non-sebaceous lymphadenoma.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
- Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study.Dermatopathology (Basel, Switzerland) · 2026Article
- Novel LUC7L::NUTM1 fusion in PDGFRA-rearranged myeloproliferative neoplasm with eosinophilia: a case report.World journal of surgical oncology · 2026Article
- Atypical eccrine poroma of the buttock: Expanding the clinical spectrum of a rare benign neoplasm.JAAD case reports · 2026Article
- The evolving role of TRPS1 in dermatopathology: insights from the past 4 years.Journal of pathology and translational medicine · 2026Article
- RB1 inactivation in cutaneous carcinomas.Histopathology · 2026Review
- Epidemiology, treatment patterns, and survival outcomes of porocarcinoma: A population-based analysis.Medicine · 2026Article
- International guidelines on the diagnosis and treatment of NUT carcinoma.Innovation (Cambridge (Mass.)) · 2026Review
- Minor trauma-induced eccrine porocarcinoma of the toe in a patient on long-term carbamazepine: a case report and literature review.Frontiers in oncology · 2026Article
- Cribriform Tumor of the Skin: Identification of 6q and 9q Loss as a Recurrent Cytogenomic Alteration.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- Expanding the spectrum of non-canonical NUT carcinoma: clinicopathological and molecular characterization ofFrontiers in oncology · 2026Article
- Anti-PD-1 monoclonal antibody combined with chemotherapy for porocarcinoma: a case report and literature review.Frontiers in oncology · 2026Article
- YAP1::MAML2-Rearranged Poroid Squamous Cell Carcinoma Arising in a Non-sebaceous Lymphadenoma of the Parotid Gland.Head and neck pathology · 2025Article
- NUT Carcinoma of the Head and Neck: Clinicopathologic and Molecular Analysis of 18 Cases.Head and neck pathology · 2025Article
- YAP1::MAML2, YAP1::NUTM1, and RNF13::PAK2 rearrangements in trichoblastomas and adnexal tumors with panfollicular differentiation: expanding the spectrum of YAP1/PAK-fused skin adnexal tumors.Virchows Archiv : an international journal of pathology · 2025Article
47 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Poroma is a benign skin tumor exhibiting terminal sweat gland duct differentiation. The present study aimed to explore the potential role of gene fusions in the tumorigenesis of poromas. RNA sequencing and reverse transcription PCR identified highly recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poromas (92/104 lesions, 88.5%) and their rare malignant counterpart, porocarcinomas (7/11 lesions, 63.6%). A WWTR1-NUTM1 fusion was identified in a single lesion of poroma. Fluorescent in-situ hybridization confirmed genomic rearrangements involving these genetic loci. Immunohistochemical staining could readily identify the YAP1 fusion products as nuclear expression of the N-terminal portion of YAP1 with a lack of the C-terminal portion. YAP1 and WWTR1, also known as YAP and TAZ, respectively, encode paralogous transcriptional activators of TEAD, which are negatively regulated by the Hippo signaling pathway. The YAP1 and WWTR1 fusions strongly transactivated a TEAD reporter and promoted anchorage-independent growth, confirming their tumorigenic roles. Our results demonstrate the frequent presence of transforming YAP1 fusions in poromas and porocarcinomas and suggest YAP1/TEAD-dependent transcription as a candidate therapeutic target against porocarcinoma.
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