Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons

Aoki, Seishiro; Hirata, Yoshiko; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Suzuki, Hisato; Kosaki, Kenjiro; Amagai, Masayuki; Kubo, Akiharu

doi:10.1016/j.jid.2021.03.028

Cited by 3 publications

(1 citation statement)

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“…Activating mutations in FGFR3 were identified in nearly half of seborrheic keratosis lesions examined, supporting a role for FGFR3 in maintaining a differentiated phenotype and suppressing malignant progression (Heidenreich et al, 2017). Whole exome sequencing of skin tags (acrochordons, polypoid skin lesions) identified epidermal somatic mutations in FGFR3 , HRAS , or KRAS , which are commonly seen in seborrheic keratoses (Aoki et al, 2021). Consistent with these findings, activating FGFR3 mutations were found to cause mild hyperplasia in human skin, but were insufficient to drive benign or malignant skin tumors (Duperret et al, 2014).…”

Section: Selected Topics In Genetics Development Regeneration and Dis...mentioning

confidence: 99%

New developments in the biology of fibroblast growth factors

Ornitz

Itoh

2022

WIREs Mechanisms of Disease

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The fibroblast growth factor (FGF) family is composed of 18 secreted signaling proteins consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine kinases (FGFRs 1-4) and four intracellular proteins (intracellular FGFs or iFGFs) that primarily function to regulate the activity of voltagegated sodium channels and other molecules. The canonical FGFs, endocrine FGFs, and iFGFs have been reviewed extensively by us and others. In this review, we briefly summarize past reviews and then focus on new developments in the FGF field since our last review in 2015. Some of the highlights in the past 6 years include the use of optogenetic tools, viral vectors, and inducible transgenes to experimentally modulate FGF signaling, the clinical use of small molecule FGFR inhibitors, an expanded understanding of endocrine FGF signaling, functions for FGF signaling in stem cell pluripotency and differentiation, roles for FGF signaling in tissue homeostasis and regeneration, a continuing elaboration of mechanisms of FGF signaling in development, and an expanding appreciation of roles for FGF signaling in neuropsychiatric diseases.

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Section: Selected Topics In Genetics Development Regeneration and Dis...mentioning

confidence: 99%

New developments in the biology of fibroblast growth factors

Ornitz

Itoh

2022

WIREs Mechanisms of Disease

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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism

et al. 2023

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A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism: a congenital monoallelic pathogenic variant of ATP2C1, followed by a postzygotic copy-neutral loss of heterozygosity. Uniquely, neither patient had a family history of HHD at the time of presentation. In the first case, the congenital pathogenic variant had occurred de novo. In the second case, the father had the pathogenic variant but had not yet developed skin symptoms. Our cases showed that superimposed mosaicism in HHD can lack a family history and that genetic analysis is crucial to classify the type of mosaicism and evaluate the risk of familial occurrence.

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