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

Autor: Kervarrec T; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Department of Pathology, University Hospital of Tours, Tours, France.; 'Biologie des infections à polyomavirus' Team, UMR1282 INRAE, University of Tours, Tours, France., Pissaloux D; Department of Biopathology, Center Léon Bérard, Lyon, France., Tirode F; Department of Biopathology, Center Léon Bérard, Lyon, France.; Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée, University of Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Lyon, France., de la Fouchardière A; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Department of Biopathology, Center Léon Bérard, Lyon, France.; Centre Léon Bérard, Cancer Research Center of Lyon, Equipe Labellisée, University of Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Lyon, France., Sohier P; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Department of Pathology, Hôpital Cochin, AP-HP, AP-HP Centre - Université Paris Cité, Paris, France.; Faculté de Médecine, University Paris Cité, Paris, France., Frouin E; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Department of Pathology, University Hospital of Poitiers, University of Poitiers, LITEC, Poitiers, France., Hamard A; Department of Pathology, University Hospital of Tours, Tours, France., Houben R; Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Würzburg, Germany., Schrama D; Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Würzburg, Germany., Barlier A; Aix-Marseille Univ, INSERM, MMG, U1251, Marmara Institute, Marseille, France.; Laboratory of Molecular Biology, La Conception Hospital, Marseille, France., Cribier B; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Clinique Dermatologique, Hôpital Civil, Hôpitaux Universitaires, Université de Strasbourg, Strasbourg, France., Battistella M; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Department of Pathology, Hospital Saint-Louis, AP-HP, Université Paris Cité, INSERM U976, Paris, France., Macagno N; CARADERM, French Network of Rare Cutaneous Cancer, Lille, France.; Aix-Marseille Univ, INSERM, MMG, U1251, Marmara Institute, Marseille, France.; Department of Pathology, APHM, Timone University Hospital, Marseille, France.
Jazyk: angličtina
Zdroj: Histopathology [Histopathology] 2024 Jan; Vol. 84 (2), pp. 266-278. Date of Electronic Publication: 2023 Aug 23.
DOI: 10.1111/his.15023
Abstrakt: 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.
(© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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