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.

scholarly journals 483 Next-generation target sequencing analysis identifies multiple somatic mutations in basal cell carcinoma

2019 ◽  
Vol 139 (9) ◽  
pp. S297
Author(s):  
L. Di Nardo ◽  
C. Pellegrini ◽  
M. Maturo ◽  
F. Ricci ◽  
A. Di Stefani ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Target Sequencing

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.

scholarly journals Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

2021 ◽  
Vol 3 (5) ◽  
pp. 15-17
Author(s):  
S. Binsheikhan ◽  
S. Mittal ◽  
M. Al Abadie
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Female Child ◽  
Treatment Modalities ◽  
Gorlin Syndrome ◽  
Cutaneous Manifestations ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age. Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC). Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.

Basal Cell Carcinoma of Prostate With MSMB–NCOA4 Fusion and a Probable Basal Cell Carcinoma In Situ: Case Report

2021 ◽  
pp. 106689692110173
Author(s):  
Vilde Pedersen ◽  
Katrine S. Petersen ◽  
Klaus Brasso ◽  
Olga Østrup ◽  
Anand C. Loya
Keyword(s):  
Prostate Cancer ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Carcinoma In Situ ◽  
Pathological Examination ◽  
Molecular Characteristics ◽  
Histological Lesion ◽  
Basal Cell Carcinomas

Basal cell carcinomas of prostate (BCCP) are very rare. Most arise in the transition zone and thus are associated with lower urinary tract symptoms and rarely associated with elevated prostate-specific antigen (PSA). These features make diagnosis/early diagnosis difficult because of the routine protocols followed. Basal cell carcinomas have distinctive histopathological, immunohistochemical, and to some extent also different molecular characteristics. Basal cell carcinoma in situ (BCCIS) is a nonexistent histological lesion as per the current literature, but here is an attempt to describe it through this case. A 74-year-old man presented with hematuria and previous diagnosis of prostatic hyperplasia. Based on this history, he underwent a prostatectomy ad modum Freyer. Pathological examination surprisingly revealed a diffusely infiltrative tumor with nonacinar adenocarcinoma morphology and many glandular structures probably representing BCCIS. Tumor was diagnosed as BCCP. Patient presented with metastasis to the abdominal wall 8 months postprostatectomy. BCCP is an aggressive type of prostate cancer, which might be challenging to diagnose based on routine protocols. This results in delayed diagnosis and treatment and thus poor prognosis. Furthermore, patients with this subtype of prostate cancer need appropriately designed, and maybe a totally different follow-up regimen as PSA is of no use for BCCP patients. Finally, diagnosis of BCCIS, if agreed upon its existence needs to be studied in larger cohorts as a precursor lesion.

scholarly journals Identification of Differentially Expressed Genes and associated pathways common to Eyelid and Non-Ocular Basal Cell Carcinoma to understand the Molecular Biology of BCC

2021 ◽  
Author(s):  
Perumal Jayaraj ◽  
Seema Sen ◽  
Pranjal Vats ◽  
Shefali Dahiya ◽  
Vanshika Mohindroo
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Expression Profiles ◽  
Enrichment Analysis ◽  
Bioinformatic Analysis ◽  
Malignant Neoplasms ◽  
Pathway Enrichment Analysis ◽  
Hub Genes ◽  
Pathway Enrichment

Background: Eyelid BCC accounts for more than 90% of Eyelid malignant neoplasms. Various aberrant signalling pathways and genes in Non-Ocular BCC have been found whereas Eyelid bcc remains elusive. Objective: This study aims to find the common DEGs of Eyelid and Non-Ocular BCC using bioinformatic analysis and text mining to gain more insights into the molecular aspects common to both BCC non-ocular and Eyelid BCC and to identify common potential prognostic markers. Material and method: The Gene Expression profiles of Eyelid BCC (GSE103439) and Non-Ocular BCC (GSE53462) were obtained from the NCBI GEO database followed by identification of common DEGs. Protein-Protein interaction and Pathway Enrichment analysis of these screened genes was done using bioinformatic tools like STRING, Cytoscape and BiNGO, DAVID, KEGG respectively. Results: A total of 181 genes were found common in both datasets. A PPI network was formed for the screened genes and 20 HUB genes were sorted which included CTNNB1, MAPK14, BTRC, EGFR, ADAM17. Pathway enrichment of HUB genes showed that they were dysregulated in carcinogenic and apoptotic pathways that seem to play a role in the progression of both the BCC. Conclusion: The result and findings of bioinformatic analysis highlighted the molecular pathways and genes enriched in both Eyelid BCC as well as Non- Ocular BCC. The identified pathways should be studied further to recognise common molecular events that would lead to the progression of BCC. This may provide a window to explore the prognostic and therapeutic strategies common to both BCC. Keywords: Basal cell carcinoma (BCC), Cancer, Microarray, Ophthalmology, Tumour marker

scholarly journals Imiquimod 5% cream in the treatment of superficial and nodular basal cell carcinomas: study of 10 cases

2002 ◽  
Vol 77 (6) ◽  
pp. 693-698 ◽  
Author(s):  
Cyro Festa Neto
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Topical Treatment ◽  
Imiquimod Cream ◽  
Basal Cell Carcinomas ◽  
Different Types

BACKGROUND: Topical treatment with 5% imiquimod cream has been demonstrated to be effective in patients with basal cell carcinoma. OBJECTIVES: In the present study, efficacy and tolerability of this treatment was analyzed in 10 patients with 13 different types of superficial and nodular basal cell carcinomas. METHODS: Imiquimod cream was applied daily for a mean period of 23 days. RESULTS AND CONCLUSIONS: All patients responded favorably to the drug with healing of the lesions. No recurrence was observed during two to three months of follow up.

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
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