scholarly journals Unraveling the Wide Spectrum of Melanoma Biomarkers

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1341
Author(s):  
Antonios Revythis ◽  
Sidrah Shah ◽  
Mikolaj Kutka ◽  
Michele Moschetta ◽  
Mehmet Akif Ozturk ◽  
...  

The use of biomarkers in medicine has become essential in clinical practice in order to help with diagnosis, prognostication and prediction of treatment response. Since Alexander Breslow’s original report on “melanoma and prognostic values of thickness”, providing the first biomarker for melanoma, many promising new biomarkers have followed. These include serum markers, such as lactate dehydrogenase and S100 calcium-binding protein B. However, as our understanding of the DNA mutational profile progresses, new gene targets and proteins have been identified. These include point mutations, such as mutations of the BRAF gene and tumour suppressor gene tP53. At present, only a small number of the available biomarkers are being utilised, but this may soon change as more studies are published. The aim of this article is to provide a comprehensive review of melanoma biomarkers and their utility for current and, potentially, future clinical practice.

2019 ◽  
Vol 2 (4) ◽  
pp. 85 ◽  
Author(s):  
Hölzl-Armstrong ◽  
Kucab ◽  
Korenjak ◽  
Luijten ◽  
Phillips ◽  
...  

DNA in dividing cells is prone to mutagenesis, with mutations making key contributions to human disease including cancer. The tumour suppressor gene TP53 is the most frequently mutated gene in human tumours. Here, we present a robust protocol for studying TP53 mutagenesis utilising human TP53 knock-in (Hupki) mouse embryonic fibroblasts (HUFs). In the HUF immortalisation assay (HIMA), primary HUFs are treated with known or suspected carcinogens at 3% oxygen and then transferred to 20% atmospheric oxygen to induce senescence. Cells containing mutations (e.g., in TP53) that allow bypassing of senescence eventually emerge as immortalised clonal cell lines after 2–3 months of serial passaging. As not all immortalised HUF cells contain TP53 mutations, we developed a Nutlin-3a counter-screen to select for TP53-mutated clones prior to sequencing. TP53 mutation spectra generated can be compared with those of human tumours recorded in the International Agency for Research on Cancer TP53 mutation database. Environmental mutagens that have demonstrated and validated the utility of the HIMA include ultraviolet radiation, aristolochic acid, and benzo[a]pyrene. The TP53 mutation patterns induced by these mutagens in the HIMA corresponded to those found in human tumours from patients exposed to these mutagens. The approach presented helps to deepen our understanding of human cancer aetiology.


2011 ◽  
Vol 58 (3) ◽  
pp. 455-466 ◽  
Author(s):  
Raffaella Santi ◽  
Valentina Cetica ◽  
Alessandro Franchi ◽  
Monica Pepi ◽  
Anna M Cesinaro ◽  
...  

Cancers ◽  
2021 ◽  
Vol 13 (17) ◽  
pp. 4300
Author(s):  
Sascha Hoppe ◽  
Christoph Jonas ◽  
Marten Christian Wenzel ◽  
Oscar Velazquez Camacho ◽  
Christoph Arolt ◽  
...  

Esophageal adenocarcinoma (EAC) is a deadly disease with limited options for targeted therapy. With the help of next-generation sequencing studies over the last decade, we gained an understanding of the genomic architecture of EAC. The tumor suppressor gene TP53 is mutated in 70 to 80% of tumors followed by genomic alterations in CDKN2A, KRAS, ERBB2, ARID1A, SMAD4 and a long tail of less frequently mutated genes. EAC is characterized by a high burden of point mutations and genomic rearrangements, resulting in amplifications and deletions of genomic regions. The genomic complexity is likely hampering the efficacy of targeted therapies. Barrett’s esophagus (BE), a metaplastic response of the esophagus to gastro-esophageal reflux disease, is the main risk factor for the development of EAC. Almost all EACs are derived from BE. The sequence from BE to EAC provides an opportunity to study the genomic evolution towards EAC. While the overlap of point mutations between BE and EAC within the same patient is, at times, surprisingly low, there is a correlation between the complexity of the genomic copy number profile and the development of EAC. Transcriptomic analyses separated EAC into a basal and a classical subtype, with the basal subtype showing a higher level of resistance to chemotherapy. In this review, we provide an overview of the current knowledge of the genomic and transcriptomic characteristics of EAC and their relevance for the development of the disease and patient care.


With more than half of all cancer cases occurring in less developed nations of the world, cancer is a source of significant and growing mortality worldwide, with an increase to 19.3 million new cancer cases per year projected for 2025. Standard current treatments for cancer include surgery, radiotherapy, and a host of other systemic treatments comprising cytotoxic chemotherapy, hormonal therapy, immunotherapy, and targeted therapies. Referred to as the “guardian of the genome,” the alteration or inactivation of p53 tumour-suppressor gene by mutation or by its interactions with oncogene products or DNA tumour viruses can lead to cancer. The p53 is mutated in about half of almost all types of cancer arising from a wide spectrum of tissues. This chapter focuses on several types of cancer including breast and ovarian, colorectal, small cell lung carcinoma, malignant melanoma, pancreatic, prostate, neurofibromatosis, multiple endocrine neoplasia, and retinoblastoma.


2002 ◽  
Vol 28 (2) ◽  
pp. 136-141 ◽  
Author(s):  
J. A. Kraus ◽  
C. Oster ◽  
N. Sorensen ◽  
F. Berthold ◽  
U. Schlegel ◽  
...  

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