Mosaic <i>EGFR</i> exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with ‘skyline’ basal cell layer (PENS)-Reference-Cited by-同舟云学术

Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with ‘skyline’ basal cell layer (PENS)

Published:2024-06-03 Issue: Volume: Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Bessis Didier¹^ORCID,Poujade Laura¹,Cossée Mireille²^ORCID,Boursier Guilaine³,Barat-Houari Mouna³,Tharreau Mylene³,Durand Luc⁴,Aguilar Simon-Cabello⁵,Solassol Jérome⁵,Willems Marjolaine⁶,Vendrell Julie⁵

Affiliation:

1. Department of Dermatology and Reference Center for Rare Skin Diseases (MAGEC), Saint-Eloi Hospital, University of Montpellier and INSERM U1058 , Montpellier , France

2. Molecular Diagnostic Laboratory, Montpellier University Hospital , Montpellier , France ; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France

3. Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier , Montpellier , France

4. Department of Pathology, Saint-Eloi Hospital and University of Montpellier , Montpellier , France

5. Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier , Montpellier , France

6. Department of Medical Genetics, Arnaud de Villeneuve Hospital and University of Montpellier , Montpellier , France

Abstract

Papular epidermal naevus with ‘skyline’ basal cell layer (PENS) is a type of keratinocytic epidermal naevus for which the molecular genetic mechanism has not yet been identified. EGFR ex20ins could represent a new and specific genetic somatic marker of PENS.

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljae236/58463152/ljae236.pdf

Reference5 articles.

1. Papular epidermal nevus with ‘skyline’ basal cell layer (PENS);Torrelo;J Am Acad Dermatol,2011

2. PENS syndrome: a new neurocutaneous phenotype;Tadini;Dermatology,2012

3. EGFR and ERBB2 exon 20 insertion/duplication in advanced non-small cell lung cancer: genomic profiling and clinicopathologic features;Sompallae;Front Oncol,2023

4. EGFR exon 20 insertion/duplication mutations characterize fibrous hamartoma of infancy;Park;Am J Surg Pathol,2016

5. A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor;Umegaki-Arao;Br J Dermatol,2020