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Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update

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  • معلومة اضافية
    • Contributors:
      Infectiologie et Santé Publique (UMR ISP); Université de Tours (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE); Service de Pathologie CHRU Tours; Centre Hospitalier Régional Universitaire de Tours (CHRU Tours); 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); Centre Léon Bérard Lyon; Université Paris Cité (UPCité); Hôpital Cochin AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ); Laboratoire Inflammation, Tissus épithéliaux et Cytokines (LITEC Poitiers ); Université de Poitiers = University of Poitiers (UP); Initial MAnagement and prevention of acute orGan failures IN critically ill patiEnts (IMAGINE); Université de Montpellier (UM); University Hospital of Würzburg; 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); Service d'endocrinologie, diabète, maladies métaboliques Hôpital de la Conception - APHM; Aix Marseille Université (AMU); Institut Marseille Maladies Rares (MarMaRa); Université de Strasbourg (UNISTRA); Les Hôpitaux Universitaires de Strasbourg (HUS); Nouvel Hôpital Civil de Strasbourg; Hopital Saint-Louis AP-HP (AP-HP); Université Paris Diderot - Paris 7 (UPD7); Hôpital de la Timone CHU - APHM (TIMONE)
    • بيانات النشر:
      HAL CCSD
      Wiley
    • الموضوع:
      2023
    • Collection:
      Université de Poitiers: Publications de nos chercheurs.ses (HAL)
    • نبذة مختصرة :
      International audience ; Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform into porocarcinoma, its malignant counterpart. Poroma and porocarcinoma are characterised by recurrent gene fusions involving YAP1, a transcriptional co-activator, which is controlled by the Hippo signalling pathway. The fusion genes frequently involve MAML2 and NUTM1, which are also rearranged in other cutaneous and extracutaneous neoplasms. We aimed to review the clinical, morphological and molecular features of this category of adnexal neoplasms with a special focus upon emerging differential diagnoses, and discuss how their systematic molecular characterisation may contribute to a standardisation of diagnosis, more accurate classification and, ultimately, refinement of their prognosis and therapeutic modalities.
    • ISBN:
      978-0-01-051873-3
      0-01-051873-8
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/37609771; hal-04254195; https://amu.hal.science/hal-04254195; PUBMED: 37609771; WOS: 001051873800001
    • الرقم المعرف:
      10.1111/his.15023
    • Rights:
      http://creativecommons.org/licenses/by-nc-nd/
    • الرقم المعرف:
      edsbas.DFEE1DBD