Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

Abstract : Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In contrast with Schimmelpenning syndrome, no cerebral, ocular or skeletal anomalies have hitherto been reported. We report two unrelated fetuses with PPSN, one with large pink exophytic tumours, the other with minor features but similar microscopic findings. We performed whole-exome sequencing in affected skin tissue from fetus 1, which identified a postzygotic de novo FGFR2 c.1144T>C (p.Cys382Arg) mutation in 34[middle dot]6% of reads which was absent in the parents' blood. Targeted deep sequencing of FGFR2 confirmed its mosaic status in additional affected skin from fetus 1, and identified the same substitution in 26% of reads in affected skin from fetus 2. FGFR2 p.Cys382Arg is a known somatic driver mutation in human cancer, previously reported to result in activation of RAS signalling. A similar paralogous missense mutation in the transmembrane domain of FGFR3 (p.Gly380Arg) has been reported in keratinocytic epidermal naevi. Our findings define a distinct clinical and molecular subgroup of SN, beside HRAS or KRAS-related SN, and expand the spectrum of mosaic skin conditions associated with receptor tyrosine kinase mutations.,
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01412205
Contributeur : Gad - Université de Bourgogne <>
Soumis le : jeudi 8 décembre 2016 - 10:36:42
Dernière modification le : mercredi 19 août 2020 - 11:18:12

Identifiants

Citation

Paul Kuentz, Sylvie Fraitag, Marie Gonzales, Ferdinand Dhombres, Judith Saint-Onge, et al.. Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. British Journal of Dermatology, Wiley, 2016, ⟨10.1111/bjd.14681⟩. ⟨hal-01412205⟩

Partager

Métriques

Consultations de la notice

415