دورية أكاديمية
Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1 ‐deficient skin carcinoma
| العنوان: | Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1 ‐deficient skin carcinoma |
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| المؤلفون: | Kervarrec, Thibault, Frouin, Eric, Collin, Christine, Tallet, Anne, Tallegas, Matthias, Pissaloux, Daniel, Tirode, Franck, Guyétant, Serge, Samimi, Mahtab, Gaboriaud, Pauline, Touzé, Antoine, Schrama, David, Houben, Roland, Tabareau‐delalande, Flore, Neuhart, Anne, de la Fouchardière, Arnaud, Osio, Amélie, Cavelier-Balloy, Bénédicte, Laurent‐roussel, Sara, Sohier, Pierre, Cyprien, Tilmant, Balme, Brigitte, Belzung, Fanny, Jullie, Marie‐laure, Cribier, Bernard, Battistella, Maxime, Macagno, Nicolas |
| المساهمون: | Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Infectiologie et Santé Publique (UMR ISP), Université de Tours (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Centre Léon Bérard Lyon, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard Lyon -Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospital of Würzburg, Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Dermatopathologie de la Roquette, UFR Médecine Santé - Université Paris Cité (UFR Médecine UPCité), Université Paris Cité (UPCité), Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL), Département de Pathologie CHU Lyon-Sud - HCL, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Bordeaux, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital de la Timone CHU - APHM (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| المصدر: | ISSN: 0309-0167. |
| بيانات النشر: | HAL CCSD Wiley |
| سنة النشر: | 2023 |
| المجموعة: | Université François-Rabelais de Tours: HAL |
| مصطلحات موضوعية: | Merkel, Rb-deficient squamous cell carcinoma, YAP1, porocarcinoma, poroma, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology |
| الوصف: | International audience ; Aims: Recently, YAP1 fusion genes have been demonstrated in eccrine poroma and porocarcinoma, and the diagnostic use of YAP1 immunohistochemistry has been highlighted in this setting. In other organs, loss of YAP1 expression can reflect YAP1 rearrangement or transcriptional repression, notably through RB1 inactivation. In this context, our objective was to re-evaluate the performance of YAP1 immunohistochemistry for the diagnosis of poroma and porocarcinoma.Methods and results: The expression of the C-terminal part of the YAP1 protein was evaluated by immunohistochemistry in 543 cutaneous epithelial tumours, including 27 poromas, 14 porocarcinomas and 502 other cutaneous tumours. Tumours that showed a lack of expression of YAP1 were further investigated for Rb by immunohistochemistry and for fusion transcripts by real-time PCR (YAP1::MAML2 and YAP1::NUTM1). The absence of YAP1 expression was observed in 24 cases of poroma (89%), 10 porocarcinoma (72%), 162 Merkel cell carcinoma (98%), 14 squamous cell carcinoma (SCC) (15%), one trichoblastoma and one sebaceoma. Fusions of YAP1 were detected in only 16 cases of poroma (n = 66%), 10 porocarcinoma (71%) all lacking YAP1 expression, and in one sebaceoma. The loss of Rb expression was detected in all cases except one of YAP1-deficient SCC (n = 14), such tumours showing significant morphological overlap with porocarcinoma. In-vitro experiments in HaCat cells showed that RB1 knockdown resulted in repression of YAP1 protein expression.Conclusion: In addition to gene fusion, we report that transcriptional repression of YAP1 can be observed in skin tumours with RB1 inactivation, including MCC and a subset of SCC. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/36720791; hal-04077169; https://hal.inrae.fr/hal-04077169Test; https://hal.inrae.fr/hal-04077169/documentTest; https://hal.inrae.fr/hal-04077169/file/2023_Kervarrec_Histopathol_vol-82.pdfTest; PUBMED: 36720791; WOS: 000935265400001 |
| DOI: | 10.1111/his.14874 |
| الإتاحة: | https://doi.org/10.1111/his.14874Test https://hal.inrae.fr/hal-04077169Test https://hal.inrae.fr/hal-04077169/documentTest https://hal.inrae.fr/hal-04077169/file/2023_Kervarrec_Histopathol_vol-82.pdfTest |
| حقوق: | http://creativecommons.org/licenses/byTest/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.128D6831 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/his.14874 |
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