Expanding the clinical spectrum of mosaic BRAF skin phenotypes.

Date publication

mai 2021

Journal

Journal of the European Academy of Dermatology and Venereology : JEADV

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Pr PHILIPPE Christophe , Pr VABRES Pierre , Pr THAUVIN-ROBINET Christel , Pr KUENTZ Paul

Tous les auteurs :
Sorlin A, Carmignac V, Amiel J, Boccara O, Fraitag S, Maruani A, Theiler M, Weibel L, Duffourd Y, Philippe C, Thauvin-Robinet C, Faivre L, Rivière JB, Vabres P, Kuentz P

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/34051131

Résumé

BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP) and in phacomatosis pigmentokeratotica (PPK) , also possibly caused by HRAS mutations. BRAF is a RAS-activating serine/threonine kinase of the MAP kinase pathway, resulting in cell growth and proliferation. BRAF mutations, particularly p.(Val600Glu), are frequently identified in melanoma and other human cancers . We report clinical presentations of three patients with postzygotic BRAF mutations in affected skin, identified by next generation sequencing (NGS).

Mots clés

BRAF , Syringocystadenoma papilliferum, mosaic, phacomatosis pigmentokeratotica

Référence

J Eur Acad Dermatol Venereol. 2021 May 29;: