scholarly journals Molecular Profile of Skin Cancer

2021 ◽  
Vol 11 (19) ◽  
pp. 9142
Author(s):  
Elena Porumb-Andrese ◽  
Mihaela Monica Scutariu ◽  
Ionut Luchian ◽  
Thomas Gabriel Schreiner ◽  
Ioana Mârţu ◽  
...  
Keyword(s):  
Immune Response ◽  
Skin Cancer ◽  
Molecular Level ◽  
Gene Mutations ◽  
Skin Tumors ◽  
Molecular Profile ◽  
Genetic Mutations

Neoplasia occurs as a result of genetic mutations. Research evaluating the association between gene mutations and skin cancer is limited and has produced inconsistent results. There are no established guidelines for screening skin cancer at molecular level. It should also be noted that the combinations of some mutations may play a role in skin tumors’ biology and immune response. There are three major types of skin cancer, and the originality of this study comes from its approach of each of them.

Vaccination today and tomorrow

1995 ◽  
Vol 15 (6) ◽  
pp. 493-502 ◽  
Author(s):  
F. Brown
Keyword(s):  
Immune Response ◽  
Infectious Diseases ◽  
Immune Responses ◽  
Molecular Level ◽  
Critical Issue ◽  
Natural Host ◽  
Increasing Knowledge ◽  
Empirical Approaches

The vaccines against infectious diseases in use today are, with few exceptions, prepared from the causal agents themselves, either by inactivating them with a chemical such as formaldehyde or by attenuating them so that they grow and thus evoke an immune response in the natural host but cause no disease. These empirical approaches have produced many highly successful vaccines. Increasing knowledge at the molecular level of the agents and of the immune response to protein antigent is now providing us with the opportunity to design vaccines that will elicit protective responses without the need to use the agents themselves. The critical issue is to identify the immune responses that correlate with protection.

scholarly journals Cloud based mobile solution for early detection of Skin Cancer using Artificial Intelligence

2021 ◽  
pp. 312-324
Author(s):  
Pawan Sonawane ◽  
Sahel Shardhul ◽  
Raju Mendhe
Keyword(s):  
Neural Network ◽  
Artificial Intelligence ◽  
Skin Cancer ◽  
Early Detection ◽  
Transfer Learning ◽  
Network Model ◽  
Neural Network Model ◽  
Mobile Application ◽  
Low Cost ◽  
Skin Tumors

The vast majority of skin cancer deaths are from melanoma, with about 1.04 million cases annually. Early detection of the same can be immensely helpful in order to try to cure it. But most of the diagnosis procedures are either extremely expensive or not available to a vast majority, as these centers are concentrated in urban regions only. Thus, there is a need for an application that can perform a quick, efficient, and low-cost diagnosis. Our solution proposes to build a server less mobile application on the AWS cloud that takes the images of potential skin tumors and classifies it as either Malignant or Benign. The classification would be carried out using a trained Convolution Neural Network model and Transfer learning (Inception v3). Several experiments will be performed based on Morphology and Color of the tumor to identify ideal parameters.

scholarly journals Structural composition and clinical features of dermatological patients with keratinocytic skin tumors

2021 ◽  
Vol 67 (1) ◽  
pp. 91-96
Author(s):  
Rustem Khasanov ◽  
Elena Faizullina ◽  
Irina Khismatulina ◽  
Azat Murtazin
Keyword(s):  
Skin Cancer ◽  
Medical Care ◽  
Clinical Features ◽  
Basal Cell ◽  
Clinical Manifestations ◽  
Pathological Process ◽  
Skin Tumors ◽  
Long Period ◽  
Nasal Region ◽  
Common Malignancy

Basal cell skin cancer (BCС) is the most common malignancy that is found in dermatological practice. The purpose of the study: to determine the structure of clinical manifestations of BCС in ambulant dermatological patients. The study was conducted from 2015 to 2017 in a private clinic in Kazan, which has a license to provide medical care in the specialties "dermatovenerology" and "surgery". We studied the results of examination of 2730 patients with skin tumors available in outpatient cards. 101 patients with histologically verified BCС were examined, including 29% of men (n=29) and 71% of women (n=72), the average age was 59.7±14.9 years (median – 61.5 years). The percentage of patients with BCС among patients with all skin malignancies at the dermatological reception was 95.3% (n=101). Most often, patients aged 60-74 years suffered from BCС: women – in 21.0% (n=21) and men – in 16.0% (n=16), respectively. The proportion of women aged 45-59 years was significantly higher – 20.0%, than the proportion of men – 9.0% (p<0.05). Men were significantly more likely to see a dermatologist – 55.0% in less than a year from the onset of the disease, than women – 21.4% (p<0.01). The proportion of women (44.6%) who noted the appearance of a tumor over a long period (≥5 years) was significantly less than the proportion of men 15.0% (p<0.05). The most common variant of BCС was the nodular form n=77 (76.2%), in which the primary elements of 80.5% were identified by dermatologists as single 5-10 mm papules. The oculo-fronto-nasal region was involved in the pathological process in 47.5% (n=48) of cases, which is significantly more frequent than in other localisations (p<0.05). Dermatoscopy improved the visualization of the atypical vascular network.

Pulmonary hypertension genes as major diagnostic tools

ESC CardioMed ◽  
2018 ◽  
pp. 2490-2493
Author(s):  
Mélanie Eyries ◽  
Barbara Girerd ◽  
David Montani ◽  
David-Alexandre Tregouët ◽  
Marc Humbert ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Gene Mutations ◽  
Diagnostic Tools ◽  
Genetic Mutations ◽  
Incomplete Penetrance ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Sporadic Cases ◽  
Pulmonary Arterial

A few genes have been shown to be major predisposing factors for pulmonary hypertension and are responsible for heritable forms of the disease. However, for nearly all genes described, not all mutation carriers develop the disease (autosomal transmission with incomplete penetrance) explaining the presence of genetic mutations in apparently sporadic cases. Beside mutations in major genes (BMPR2 for pulmonary arterial hypertension and EIF2AK4 for recessive heritable pulmonary veno-occlusive disease), other genes have been involved in a very limited number of cases (KCNK3, CAV1, and Smad8). Gene mutations are also been found as part of syndromic diseases (ACVRL1 mutations in hereditary haemorrhagic telangiectasia and TBX4 in small patella syndrome).

scholarly journals Expression profiles of proton-sensing G-protein coupled receptors in common skin tumors

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Wybke Klatt ◽  
Susanne Wallner ◽  
Christoph Brochhausen ◽  
Judith A. Stolwijk ◽  
Stephan Schreml
Keyword(s):  
Skin Cancer ◽  
Cell Carcinoma ◽  
Expression Profiles ◽  
Expression Patterns ◽  
Skin Tumors ◽  
Solid Cancer ◽  
Tissue Samples ◽  
Skin Cancers ◽  
Common Skin

Abstract The proton-sensing GPCRs (pH-GPCRs) GPR4 (GPR19), TDAG8 (GPR65, T-cell death associated gene 8), OGR1 (GPR68, ovarian cancer GPCR1), and G2A (GPR132, G2 accumulation protein) are involved in sensing and transducing changes in extracellular pH (pHe). Extracellular acidification is a central hallmark of solid cancer. pH-GPCR function has been associated with cancer cell proliferation, adhesion, migration and metastasis, as well as with modulation of the immune system. Little is known about the expression levels and role of pH-GPCRs in skin cancer. To better understand the functions of pH-GPCRs in skin cancer in vivo, we examined the expression-profiles of GPR4, TDAG8, OGR1 and G2A in four common skin tumors, i.e. squamous cell carcinoma (SCC), malignant melanoma (MM), compound nevus cell nevi (NCN), basal cell carcinoma (BCC). We performed immunohistochemistry and immunofluorescence staining on paraffin-embedded tissue samples acquired from patients suffering from SCC, MM, NCN or BCC. We show the expression of pH-GPCRs in four common skin cancers. Different expression patterns in the investigated skin cancer types indicate that the different pH-GPCRs may have distinct functions in tumor progression and serve as novel therapeutic targets.

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Amaia Rodríguez Estévez ◽  
Gustavo Pérez-Nanclares ◽  
Joaquin Fernández-Toral ◽  
Francisco Rivas-Crespo ◽  
Juan P. López-Siguero ◽  
...  
Keyword(s):  
Molecular Level ◽  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Delayed Puberty ◽  
Salt Wasting ◽  
Adrenal Hypoplasia Congenita ◽  
Intrafamilial Variability ◽  
Adrenal Hypoplasia

AbstractX-linked adrenal hypoplasia congenita (AHC) is caused byTo characterize clinically and at the molecular level a cohort of Spanish patients with AHC.Nine boys (from five families) with AHC were screened forgene mutations were found in all analyzed patients, one of them being novel (p.Gln305*). One patient presented with preserved hypothalamic-pituitary-gonadal axis. Salt-wasting episodes, delayed puberty, and hypogonadotropic hypogonadism were common, although no association was observed between AHC phenotype and genetic mutations. None of the patients has had descendants.AHC phenotype cannot be predicted based on genetic results as there is no definite genotype-phenotype relationship, including intrafamilial variability. Nevertheless, genetic testing for

Genomic profiling of ampullary adenocarcinoma (AA): Insights from a comparative analysis of pancreatic and intestinal adenocarcinoma and opportunities for targeted therapies use.

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 300-300
Author(s):  
Geraldine Perkins ◽  
Cecile Bouchet-Doumenq ◽  
Magali Svrcek ◽  
Orianne Colussi ◽  
Thibault Voron ◽  
...  
Keyword(s):  
Colorectal Adenocarcinoma ◽  
Gene Mutations ◽  
Treatment Decision ◽  
Intestinal Type ◽  
Molecular Profile ◽  
Technical Failure ◽  
Ampullary Adenocarcinoma ◽  
Genetic Profiling ◽  
Formalin Fixed Paraffin Embedded ◽  
Molecular Profiles

300 Background: Ampullary adenocarcinoma (AA) is a rare entity. AA can originate from either intestinal or pancreaticobiliary ductal epithelium, and patients are often managed as those with pancreaticobiliary carcinomas. The study objectives were the genetic profiling of AA and the identification of specific molecular profiles according to these 2 pathological types. Methods: AA patients included in the AGEO retrospective multicenter cohort who underwent surgical resection of their tumor between 1999 and 2010 were selected. Formalin-fixed, paraffin-embedded (FFPE) archival tissue blocks were collected. Next generation sequencing (NGS) using a 50 gene panel (Ion AmpliSeq Cancer panel) on tumor DNA, and immunohistochemistry (IHC) panel including CK7, CK20, MUC1, MUC2 and CDX2, on tumor sections, were performed. Results: NGS was performed on 101 tumors from 6 hospitals, with 1 technical failure. In total, the most frequent gene mutations were: KRAS (45%), TP53 (40%), APC (15%), PIK3CA (12%), SMAD4 (9%), BRAF (8%), CDKN2A (6%). No mutation was found in 21% of tumors. According to IHC, the most common histological type was intestinal (51%), followed by pancreaticobiliary type (42%) and undetermined (7%). BRAF mutation was significantly associated with intestinal type (8 vs 0, p = 0.017). According to Cosmic database, similarities of molecular profiles exist between AA with intestinal type and colorectal adenocarcinoma, and between AA with pancreaticobiliary type and pancreas adenocarcinoma, respectively. Conclusions: This study shows that AA is a heterogeneous entity and that a large proportion of AA presents a molecular profile that is more similar to that of colorectal adenocarcinoma, compared to pancreatic adenocarcinoma. This important information could be interesting to guide treatment decision in patients with this rare disease.

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