scholarly journals 681 Development of a topical Hedgehog inhibitor for prevention of new surgically eligible basal cell carcinomas in patients with Gorlin Syndrome: Phase 3 trial

2019 ◽  
Vol 139 (5) ◽  
pp. S117
Author(s):  
K. Grycz ◽  
D. Hinds ◽  
P. Howland ◽  
G. Kochendoerfer ◽  
A. Alderman ◽  
...  
Keyword(s):  
Basal Cell ◽  
Gorlin Syndrome ◽  
Phase 3 ◽  
Basal Cell Carcinomas ◽  
Hedgehog Inhibitor

Gorlin Syndrome, Vulvar Basal Cell Carcinomas, Vismodegib, and Lichen Sclerosus

2016 ◽  
Vol 20 (3) ◽  
pp. e40-e41 ◽  
Author(s):  
Emily Kirkpatrick ◽  
Dwina Dobriansky ◽  
James Scurry
Keyword(s):  
Basal Cell ◽  
Lichen Sclerosus ◽  
Gorlin Syndrome ◽  
Basal Cell Carcinomas

scholarly journals Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Elizabeth A. Jones ◽  
Mohammed Imran Sajid ◽  
Andrew Shenton ◽  
D. Gareth Evans
Keyword(s):  
Basal Cell ◽  
Early Life ◽  
Disease Burden ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Developmental Defects ◽  
Basal Cell Carcinomas ◽  
Males And Females ◽  
Multiple Basal Cell Carcinomas ◽  
Mutation Type

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in thePTCHgene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

scholarly journals Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Gustav Askaner ◽  
Ulrikke Lei ◽  
Birgitte Bertelsen ◽  
Alessandro Venzo ◽  
Karin Wadt
Keyword(s):  
Basal Cell ◽  
Regulatory Genes ◽  
Tumour Suppressor ◽  
Hedgehog Pathway ◽  
Tumour Suppressor Genes ◽  
Gorlin Syndrome ◽  
Suppressor Genes ◽  
Pathogenic Variants ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in the SUFU gene c.954del, p.Asn319Thrfs∗42 leading to meningiomas and multiple basal cell-carcinomas.

Efficacy of Photodynamic Therapy as a Treatment for Gorlin Syndrome-related Basal Cell Carcinomas

2009 ◽  
Vol 21 (6) ◽  
pp. 502-508 ◽  
Author(s):  
J. Loncaster ◽  
R. Swindell ◽  
F. Slevin ◽  
L. Sheridan ◽  
D. Allan ◽  
...  
Keyword(s):  
Photodynamic Therapy ◽  
Basal Cell ◽  
Gorlin Syndrome ◽  
Basal Cell Carcinomas

scholarly journals Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shoko Onodera ◽  
Nana Morita ◽  
Yuriko Nakamura ◽  
Shinichi Takahashi ◽  
Kazuhiko Hashimoto ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Enrichment Analysis ◽  
Sequencing Analysis ◽  
Gorlin Syndrome ◽  
Driver Genes ◽  
Aged Patients ◽  
Basal Cell Carcinomas

Abstract Background Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis. Methods Next-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day. Results Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling. Conclusion The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

A rare presentation of multiple scrotal basal cell carcinomas secondary to Gorlin’s syndrome

2019 ◽  
pp. 205141581987292
Author(s):  
Pat Rohan ◽  
Christine Shilling ◽  
Nigam Shah ◽  
Padraig Daly ◽  
Ivor Cullen
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Locally Advanced ◽  
The Body ◽  
High Rate ◽  
De Novo Mutation ◽  
Gorlin Syndrome ◽  
Increased Risk ◽  
Basal Cell Carcinomas

Basal cell carcinoma is the most commonly occurring cancer worldwide but it is rarely seen in non-sun-exposed areas of the body such as the scrotum.1 Basal cell carcinomas account for 5–10% of all scrotal tumours.2,3 Scrotal basal cell carcinoma is considered more aggressive with higher rates of metastasis versus non-scrotal basal cell carcinoma.1 Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterised by the development of multiple basal cell carcinomas at a young age.4,5 Prevalence of nevoid basal cell carcinoma syndrome is reported to range from 1 in 57,000 to 1 in 164,000.5 We present the case of a 58-year-old gentleman with a 3-month history of bleeding scrotal and penile lesions. These lesions were excised with 2 cm margins and without complication. Histology showed surface ulceration with basaloid infiltrating tumour extending into the dermis. Given the potential for a very high rate of tumour occurrence within individuals, surgical management of basal cell carcinomas can result in significant, lifestyle-limiting disfigurement.5 As understanding of the pathogenesis of nevoid basal cell carcinoma syndrome has advanced, a number of targeted therapies have been developed.5 Vismodegib targets the Hedgehog signalling pathway and is used in the treatment of locally advanced and metastatic basal cell carcinomas. This represents a rare case of basal cell carcinoma of the scrotum associated with nevoid basal cell carcinoma syndrome caused by a de novo mutation. It is not clear from the literature whether incidence of scrotal tumours is increased in Gorlin syndrome but given the increased risk of basal cell carcinoma elsewhere, it may be prudent for those with known Gorlin syndrome to regularly examine the scrotal skin along with recommended frequent dermatologic surveillance. Level of evidence: 5.

Early‐onset acral basal cell carcinomas in Gorlin syndrome

2014 ◽  
Vol 171 (5) ◽  
pp. 1227-1229 ◽  
Author(s):  
A. Torrelo ◽  
A. Vicente ◽  
L. Navarro ◽  
M. Planaguma ◽  
E. Bueno ◽  
...  
Keyword(s):  
Basal Cell ◽  
Early Onset ◽  
Gorlin Syndrome ◽  
Basal Cell Carcinomas

Radiotherapy in Gorlin Syndrome

2015 ◽  
Vol 20 (2) ◽  
pp. 159-162 ◽  
Author(s):  
Sarah Baker ◽  
Kurian Joseph ◽  
Patricia Tai
Keyword(s):  
Basal Cell Carcinoma ◽  
Literature Review ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Autosomal Dominant Disorder ◽  
Comprehensive Literature Review ◽  
Basal Cell Carcinomas ◽  
Treatment Refractory

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder with multiple manifestations including early onset of cutaneous basal cell carcinomas (BCCs). Radiotherapy has traditionally been contraindicated due to reports of BCC induction. We describe here a patient treated successfully with radiotherapy with no tumour induction at 57 months of follow-up. A comprehensive literature review of radiotherapy outcomes in patients with Gorlin syndrome suggests radiotherapy may be a feasible treatment option for adult patients with treatment refractory lesions or surgical contraindication.

Sign in / Sign up

Export Citation Format

Share Document