scholarly journals Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yoji Nakase ◽  
Atsuko Hamada ◽  
Naoya Kitamura ◽  
Tsuyoshi Hata ◽  
Shigeaki Toratani ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Tumor Formation ◽  
Gorlin Syndrome ◽  
Transmembrane Region ◽  
Developmental Abnormalities ◽  
Patched 1

AbstractNevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

scholarly journals A Rare Case of a Symptomatic Tumor Found in the Groin Area: An Atypical Location Unexposed to the Known Causes

2015 ◽  
Vol 8 (3) ◽  
pp. 536-539
Author(s):  
Ellen Toyonaga ◽  
Hiroo Hata ◽  
Chihiro Nakayama ◽  
Erina Homma ◽  
Toshiyuki Miyashita ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Early Onset ◽  
Rare Case ◽  
Gorlin Syndrome ◽  
Developmental Abnormalities ◽  
Wide Range ◽  
First Onset ◽  
Hereditary Condition

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The syndrome consists of early-onset and/or multiple BCC. Herein we report a rare NBCCS case in which the first BCC onset occurred in the groin area. To the best of our knowledge, there have been no reports of first-onset BCC in the groin area in an NBCCS patient of any race.

scholarly journals Gorlin syndrome - an incidental radiographic detection

2011 ◽  
Vol 15 (1) ◽  
pp. 18
Author(s):  
Shishir Ram Shetty ◽  
K M Veena ◽  
Laxmikanth Chatra ◽  
Prashanth Shenai ◽  
Prasanna Kumar Rao ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Gorlin Syndrome ◽  
Distinct Entity ◽  
Radiological Features ◽  
Goltz Syndrome ◽  
Dominant Disease

Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities. It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male:female ratio of 1:1. We describe in brief the important radiological features of an accidentally detected case of Gorlin syndrome in the form of a pictorial interlude.

Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression

Nephron ◽  
2018 ◽  
Vol 140 (4) ◽  
pp. 282-288 ◽  
Author(s):  
Maria Florencia Martínez ◽  
Luis Daniel Mazzuoccolo ◽  
Elisabet Mónica Oddo ◽  
Paula Virginia Iscoff ◽  
Carolina Muchnik ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Polycystic Kidney Disease ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Renal Progression ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Evaluation of Patched-1 Protein Expression Level in Low Risk and High Risk Basal Cell Carcinoma Subtypes

2019 ◽  
Vol 20 (9) ◽  
pp. 2851-2857 ◽  
Author(s):  
Rowida Almomani ◽  
Mariam Khanfar ◽  
Khaldon Bodoor ◽  
Firas Al-Qarqaz ◽  
Mohammad Alqudah ◽  
...  
Keyword(s):  
High Risk ◽  
Basal Cell Carcinoma ◽  
Protein Expression ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Low Risk ◽  
Expression Level ◽  
Protein Expression Level ◽  
Patched 1

Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome

2008 ◽  
Vol 105 (6) ◽  
pp. e10-e13 ◽  
Author(s):  
Behnam Eslami ◽  
Carol Lorente ◽  
David Kieff ◽  
Paul A. Caruso ◽  
William C. Faquin
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome

scholarly journals Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

2016 ◽  
Vol 10 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Scott C. Bresler ◽  
Bonnie L. Padwa ◽  
Scott R. Granter
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome

scholarly journals The Role of Dermal Fibroblasts in Nevoid Basal Cell Carcinoma Syndrome Patients: An Overview

2020 ◽  
Vol 21 (3) ◽  
pp. 720 ◽  
Author(s):  
Barbara Bellei ◽  
Silvia Caputo ◽  
Anna Carbone ◽  
Vitaliano Silipo ◽  
Federica Papaccio ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Dermal Fibroblasts ◽  
Phenotypic Traits ◽  
Skin Area ◽  
Gorlin Syndrome ◽  
Activated State ◽  
The Impact

Nevoid basal cell carcinoma syndrome (NBCCS), also named Gorlin syndrome, is a rare multisystem genetic disorder characterized by marked predisposition to basal cell carcinomas (BCCs), childhood medulloblastomas, maxillary keratocysts, celebral calcifications, in addition to various skeletal and soft tissue developmental abnormalities. Mutations in the tumor suppressor gene PATCHED1 (PTCH1) have been found to be associated in the majority of NBCCS cases. PATCH1 somatic mutations and loss of heterozygosity are also very frequent in sporadic BCCs. Unlike non-syndromic patients, NBCCS patients develop multiple BCCs in sun-protected skin area starting from early adulthood. Recent studies suggest that dermo/epidermal interaction could be implicated in BCC predisposition. According to this idea, NBCCS fibroblasts, sharing with keratinocytes the same PTCH1 germline mutation and consequent constitutive activation of the Hh pathway, display features of carcinoma-associated fibroblasts (CAF). This phenotypic traits include the overexpression of growth factors, specific microRNAs profile, modification of extracellular matrix and basement membrane composition, increased cytokines and pro-angiogenic factors secretion, and a complex alteration of the Wnt/β-catenin pathway. Here, we review studies about the involvement of dermal fibroblasts in BCC predisposition of Gorlin syndrome patients. Further, we matched the emerged NBCCS fibroblast profile to those of CAF to compare the impact of cell autonomous “pre-activated state” due to PTCH1 mutations to those of skin tumor stroma.

scholarly journals Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice

2020 ◽  
Vol 21 (23) ◽  
pp. 9295
Author(s):  
Nadine Brandes ◽  
Slavica Hristomanova Mitkovska ◽  
Dominik Simon Botermann ◽  
Wiebke Maurer ◽  
Anna Müllen ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Hedgehog Signaling ◽  
Tumor Development ◽  
Tumor Formation ◽  
Epidermal Cells ◽  
Cellular Origin ◽  
Keratin 5 ◽  
Chemically Induced

Basal cell carcinoma (BCC) originate from Hedgehog/Patched signaling-activated epidermal stem cells. However, the chemically induced tumorigenesis of mice with a CD4Cre-mediated biallelic loss of the Hedgehog signaling repressor Patched also induces BCC formation. Here, we identified the cellular origin of CD4Cre-targeted BCC progenitors as rare Keratin 5+ epidermal cells and show that wildtype Patched offspring of these cells spread over the hair follicle/skin complex with increasing mouse age. Intriguingly, Patched mutant counterparts are undetectable in age-matched untreated skin but are getting traceable upon applying the chemical tumorigenesis protocol. Together, our data show that biallelic Patched depletion in rare Keratin 5+ epidermal cells is not sufficient to drive BCC development, because the spread of these cells is physiologically suppressed. However, bypassing the repression of Patched mutant cells, e.g., by exogenous stimuli, leads to an accumulation of BCC precursor cells and, finally, to tumor development.

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