scholarly journals Coding and noncoding somatic mutations in basal cell carcinoma

2019 ◽  
Author(s):  
Maria Giovanna Maturo ◽  
Sivaramakrishna Rachakonda ◽  
Barbara Heidenreich ◽  
Cristina Pellegrini ◽  
Nalini Srinivas ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Reverse Transcriptase ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Skin Color ◽  
Human Cancer ◽  
Sun Exposure ◽  
European Ancestry ◽  
History Of ◽  
Promoter Mutations

AbstractBasal cell carcinoma (BCC) represents the most commonly diagnosed human cancer among persons of European ancestry with etiology mainly attributed to sun-exposure. In this study we investigated mutations in coding and flanking regions of the PTCH1 and TP53 genes and noncoding alterations in the TERT and DPH3 promoters in 191 BCC tumors. In addition, we measured CpG methylation within the TERT hypermethylated oncological region (THOR) and transcriptions levels of the reverse transcriptase subunit. We observed mutations in PTCH1 in 59% and TP53 in 31% of the tumors. Noncoding mutations in TERT and DPH3 promoters were detected in 59% and 38% of the tumors, respectively. We observed a statistically significant co-occurrence of mutations at the four investigated loci. While PTCH1 mutations tended to associate with decreased patient age at diagnosis; TP53 mutations were associated with light skin color and increased number of nevi; TERT and DPH3 promoter with history of cutaneous neoplasms in BCC patients. TERT promoter mutations but not THOR methylation associated with an increased expression of the reverse transcriptase subunit. Our study signifies, in addition to the protein altering mutations in the PTCH1 and TP53 genes, the importance of noncoding mutations in BCC, particularly functional alterations in the TERT promoter.

scholarly journals Clinicopathological analysis of basal cell carcinoma – A retrospective study

2020 ◽  
Vol 0 ◽  
pp. 1-5
Author(s):  
Roshan Mary George ◽  
Mohamed Nazeer ◽  
Sebastian Criton ◽  
Usha Mary Abraham ◽  
Abel Francis
Keyword(s):  
Risk Factors ◽  
Retrospective Study ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Sun Exposure ◽  
Superficial Spreading ◽  
Histopathological Features ◽  
History Of ◽  
Superficial Spreading Type

Objectives: The objective of the study was to analyze the demographic profile, histopathological features, risk factors, and recurrence rates in patients with basal cell carcinoma. Materials and Methods: A retrospective study was conducted from 2012 to October 2018 in 29 patients with histopathologically confirmed basal cell carcinoma. All the patients had undergone either excision or cryotherapy as per the institution protocol. Information on the history of the disease, occupation, history of sun exposure and clinical and histopathological features were collected and analyzed. Results: A female preponderance was found (n = 18, 62.1%), majority of the patients were unemployed (44.8%), 19 patients (65.5%) gave a history of sun exposure, and the nose was the most common site of disease. Ten females (34.5%) did not have any excessive exposure to the sun, but gave a history of exposure to heat and fumes in the kitchen. Six patients (20.7%) had a preexisting nevus at the same site and superficial spreading type was the most common histopathological type (n = 24, 82.8%). Excision gave the best result. Four patients (13.8%) had recurrence of the disease. Limitations: Small sample size was the major limitation. The risk factors and occupation could not be analyzed objectively. Conclusion: This is a pioneer study from Kerala. A female preponderance (62.1%) was observed. The role of heat, fumes, type of oven, and use of reheated oil in cooking as risk factors for the development of BCC needs analysis in future studies. Superficial spreading type was the most common pattern observed in histopathology slides (82.8%). Excision gives near-complete clearance and a good cosmetic result with less risk of recurrence.

Hugh Jackman vs. Skin Cancer Awareness Month: Promoting Public Interest in Basal Cell Carcinoma (Preprint)

2020 ◽  
Author(s):  
Trevor Torgerson ◽  
Jennifer Austin ◽  
Jam Khojasteh ◽  
Matt Vassar
Keyword(s):  
Social Media ◽  
Skin Cancer ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Moving Average ◽  
Public Awareness ◽  
Sun Exposure ◽  
Cancer Awareness ◽  
Autoregressive Integrated Moving Average

BACKGROUND Public awareness for BCC is particularly important, as its major risk factors — increased sun exposure and number of sunburns — are largely preventable. OBJECTIVE Determine whether social media posts from celebrities has an affect on public awareness of basal cell carcinoma. METHODS We used Google Trends to investigate whether public awareness for basal cell carcinoma (BCC) increased following social media posts from Hugh Jackman. To forecast the expected search interest for BCC, melanoma and sunscreen in the event that each celebrity had not posted on social media, we used the autoregressive integrated moving average (ARIMA) algorithm. RESULTS We found that social media posts from Hugh Jackman, a well-known actor, increased relative search interest above the expected search interest calculated using an ARIMA forecasting model. CONCLUSIONS Our results also suggest that increasing awareness by Skin Cancer Awareness Month may be less effective for BCC, but a celebrity spokesperson has the potential to increase awareness. BCC is largely preventable, so increasing awareness could lead to a decrease in incidence.

scholarly journals Colonisation of basal cell carcinoma and actinic keratosis by malignant melanoma in situ in a patient with xeroderma pigmentosum variant

2012 ◽  
Vol 2 (2) ◽  
pp. 47 ◽  
Author(s):  
Louise J. Smith ◽  
Ehab A. Husain
Keyword(s):  
Malignant Melanoma ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Actinic Keratosis ◽  
Xeroderma Pigmentosum ◽  
Clinical Impression ◽  
Anatomical Site ◽  
History Of

Although malignant melanoma (MM) and both basal cell carcinoma (BCC) and actinic keratosis (AK) are sun-induced lesions, the coexistence of these entities at the same anatomical site (collision tumour) is exceedingly rare. We report the case of a 54-year-old woman with a known history of xeroderma pigmentosum variant (XPV) who presented with 2 separate skin lesions over the middle and upper right forearm, respectively. The clinical impression was that of BCCs or squamous cell lesions. On histological examination, both specimens showed features of melanoma <em>in situ </em>(MIS). In the first lesion, MIS merged with and colonised a superficial and focally invasive BCC. In the second lesion, MIS merged with an AK. No separate invasive nests of malignant melanoma were seen in either specimen. The atypical melanocytes were highlighted by Melan-A and HMB-45 immunostaining, whereas the epithelial cells in both the BCC and AK stained with the pancytokeratin MNF-116. The patient had a previous history of multiple MMs and non-melanomatous skin cancers and finally developed widespread metastatic malignant melanoma, which proved fatal. The rare and interesting phenomenon of collision tumours may pose diagnostic difficulties. To our knowledge, this is the first reported simultaneous presentation of cytologically malignant collision tumours in a patient with XPV.

scholarly journals Late malignancy after 26 years of evolution on an untreated perianal fistula

2021 ◽  
Vol 28 (1) ◽  
pp. 99-101
Author(s):  
Lucian Sorin ANDREI ◽  
◽  
Adriana Corina ANDREI ◽  
Alexandru MICU ◽  
Radu Sorin POPISTEANU ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Local Excision ◽  
Squamous Cell ◽  
Basal Cell ◽  
Perianal Fistula ◽  
Transsphincteric Fistula ◽  
History Of ◽  
Histopathological Result

Squamous cell carcinoma and basal cell carcinoma are two types of neoplasms that rarely affect the perianal region, and their etiology is still a matter for debate. We present the case of a 75 year old patient with a 26 year history of perianal fistula, who presents with purulent and fecal perianal discharge and swelling at this level. Physical examination and anoscopy detected low transsphincteric fistula. The biopsy revealed the diagnosis of squamous cell carcinoma, for which a local excision was performed followed by adjuvant radiotherapy. Two years after this event, the patient presented with another perianal lession, which according to the histopathological result was a basal cell carcinoma; local excision was the only treatment performed for this malignancy.

scholarly journals Basal Cell Carcinoma: From Pathophysiology to Novel Therapeutic Approaches

Biomedicines ◽  
2020 ◽  
Vol 8 (11) ◽  
pp. 449
Author(s):  
Luca Fania ◽  
Dario Didona ◽  
Roberto Morese ◽  
Irene Campana ◽  
Valeria Coco ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Hedgehog Signaling ◽  
Human Cancer ◽  
Local Treatment ◽  
Prevention Measures ◽  
Therapeutic Approaches ◽  
Genetic Characteristics ◽  
Novel Therapeutic

Basal cell carcinoma (BCC) is the most common human cancer worldwide, and is a subtype of nonmelanoma skin cancer, characterized by a constantly increasing incidence due to an aging population and widespread sun exposure. Although the mortality from BCC is negligible, this tumor can be associated with significant morbidity and cost. This review presents a literature overview of BCC from pathophysiology to novel therapeutic approaches. Several histopathological BCC subtypes with different prognostic values have been described. Dermoscopy and, more recently, reflectance confocal microscopy have largely improved BCC diagnosis. Although surgery is the first-line treatment for localized BCC, other nonsurgical local treatment options are available. BCC pathogenesis depends on the interaction between environmental and genetic characteristics of the patient. Specifically, an aberrant activation of Hedgehog signaling pathway is implicated in its pathogenesis. Notably, Hedgehog signaling inhibitors, such as vismodegib and sonidegib, are successfully used as targeted treatment for advanced or metastatic BCC. Furthermore, the implementation of prevention measures has demonstrated to be useful in the patient management.

Basal Cell Carcinoma of Scalp in Patients With History of Childhood Therapeutic Radiation

2006 ◽  
Vol 57 (5) ◽  
pp. 509-512 ◽  
Author(s):  
Seyed Esmail Hassanpour ◽  
Abdoljalil Kalantar-Hormozi ◽  
Sadrollah Motamed ◽  
Seiied Mehdie Moosavizadeh ◽  
Reza Shahverdiani
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
History Of Childhood ◽  
History Of ◽  
Therapeutic Radiation

scholarly journals Photodynamic Therapy for Basal Cell Carcinoma: The Clinical Context for Future Research Priorities

Molecules ◽  
2020 ◽  
Vol 25 (22) ◽  
pp. 5398
Author(s):  
Nicholas J. Collier ◽  
Lesley E. Rhodes
Keyword(s):  
Photodynamic Therapy ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Human Cancer ◽  
Research Priorities ◽  
Future Research ◽  
Clinical Context ◽  
Light Delivery ◽  
Established Treatment

Photodynamic therapy (PDT) is an established treatment option for low-risk basal cell carcinoma (BCC). BCC is the most common human cancer and also a convenient cancer in which to study PDT treatment. This review clarifies challenges to researchers evident from the clinical use of PDT in BCC treatment. It outlines the context of PDT and how PDT treatments for BCC have been developed hitherto. The sections examine the development of systemic and subsequently topical photosensitizers, light delivery regimens, and the use of PDT in different patient populations and subtypes of BCC. The outcomes of topical PDT are discussed in comparison with alternative treatments, and topical PDT applications in combination and adjuvant therapy are considered. The intention is to summarize the clinical relevance and expose areas of research need in the BCC context, ultimately to facilitate improvements in PDT treatment.

scholarly journals DDX5 Silencing Suppresses the Migration of Basal cell Carcinoma Cells by Downregulating JAK2/STAT3 Pathway

2019 ◽  
Vol 18 ◽  
pp. 153303381989225 ◽  
Author(s):  
Zhe Quan ◽  
Bei-bei Zhang ◽  
Fang Yin ◽  
Jiru Du ◽  
Yuan-ting Zhi ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Hedgehog Signaling ◽  
Human Cancer ◽  
Carcinoma Cells ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Migration And Invasion ◽  
Stat3 Pathway

Basal cell carcinoma is driven by the aberrant activation of hedgehog signaling. DEAD (Asp-Glu-Ala-Asp) box protein 5 is frequently overexpressed in human cancer cells and associated with the tumor growth and invasion. The purpose of this study was to investigate the role of DEAD (Asp-Glu-Ala-Asp) box protein 5 in the growth, migration, and invasion of basal cell carcinoma. The role of DEAD (Asp-Glu-Ala-Asp) box protein 5 was detected by quantitative real-time polymerase chain reaction, Western blot, and terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling assay in basal cell carcinoma cells. The associations between JAK2/STAT3 pathway and DEAD (Asp-Glu-Ala-Asp) box protein 5 were analyzed in basal cell carcinoma cells. Results showed that DEAD (Asp-Glu-Ala-Asp) box protein 5 is overexpressed in basal cell carcinoma cells. DEAD (Asp-Glu-Ala-Asp) box protein 5 knockdown inhibited the migration and invasion of basal cell carcinoma cells. DEAD (Asp-Glu-Ala-Asp) box protein 5 knockdown increased the apoptosis of basal cell carcinoma cells induced by tunicamycin. Results found that DEAD (Asp-Glu-Ala-Asp) box protein 5 knockdown increased JAK2 and STAT3 expression in basal cell carcinoma cells. JAK2 inhibitor decreased STAT3 expression and abolished the inhibitory effects of DEAD (Asp-Glu-Ala-Asp) box protein 5 silencing on migration and invasion in basal cell carcinoma cells. In conclusion, these results indicate that DEAD (Asp-Glu-Ala-Asp) box protein 5 is a potential target for inhibiting basal cell carcinoma cells growth, migration, and invasion by downregulating JAK2/STAT3 pathway.

Geographic Pathology of Skin Cancer

1999 ◽  
Vol 3 (3) ◽  
pp. 120-122
Author(s):  
Robert Jackson
Keyword(s):  
Squamous Cell Carcinoma ◽  
Skin Cancer ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Basal Cell ◽  
Sun Exposure

Background: The development of knowledge concerning the role of sun exposure in causing skin cancer has been a gradual one. Objective: This article reviews the article by Urbach who used manikin coated with an ultraviolet dosimeter to see exactly where on the head and neck the exposure was greatest. Conclusion: Urbach showed that the areas of greatest sun exposure on his manikins corresponded with the location of 95% of squamous cell carcinoma and 66% of basal cell carcinoma. He also clearly showed the importance of scattered sky and reflected radiation.

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