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Review
. 2024 Jan;84(2):266-278.
doi: 10.1111/his.15023. Epub 2023 Aug 23.

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

Thibault Kervarrec  1   2   3 , Daniel Pissaloux  4 , Franck Tirode  4   5 , Arnaud de la Fouchardière  1   4   5 , Pierre Sohier  1   6   7 , Eric Frouin  1   8 , Aymeric Hamard  2 , Roland Houben  9 , David Schrama  9 , Anne Barlier  10   11 , Bernard Cribier  1   12 , Maxime Battistella  1   13 , Nicolas Macagno  1   10   14
Affiliations
Review

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

Thibault Kervarrec et al. Histopathology. 2024 Jan.

Abstract

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.

Keywords: NUT carcinoma; NUTM1; PAK2; YAP1; porocarcinoma; poroma.

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References

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