Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.
Fiche publication
Date publication
août 2023
Journal
Histopathology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CRIBIER Bernard
Tous les auteurs :
Kervarrec T, Pissaloux D, Tirode F, de la Fouchardière A, Sohier P, Frouin E, Hamard A, Houben R, Schrama D, Barlier A, Cribier B, Battistella M, Macagno N
Lien Pubmed
Résumé
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.
Mots clés
NUT carcinoma, NUTM1, PAK2, YAP1, porocarcinoma, poroma
Référence
Histopathology. 2023 08 23;: