Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.
NUT carcinoma
NUTM1
PAK2
YAP1
porocarcinoma
poroma
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
23 Aug 2023
23 Aug 2023
Historique:
revised:
24
07
2023
received:
14
06
2023
accepted:
25
07
2023
medline:
23
8
2023
pubmed:
23
8
2023
entrez:
23
8
2023
Statut:
aheadofprint
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.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.
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