Molecular Diagnostics in Melanoma: An Update

  • A. Srivastava
  • P. Srivastava
  • A. B. PantEmail author


The peril of cancer has constantly grown bigger over the years, gripping almost the entire globe. Melanoma, the cancer of melanocytes, is a fast growing cancer that affects the skin, eyes, uvea and even meninges. Prolonged sun-exposure and genetic aberrations usually underlie melanoma pathogenesis. The disease usually goes unnoticed during the primary stages and it is only at the advanced metastatic stages that it is diagnosed. By this time the disease progression is at its peak and the prognosis turns futile. Since the genetic factors and their mutations are primary causative factors of melanoma, to identify them molecular diagnostic tools were developed for an improved clinical outcome in comparison to other conventional diagnostic strategies. The advent of high throughput sequencing methods like next generation sequencing revolutionized the area of genomic testing for developing effective clinical diagnostics and therapeutics against melanoma, like the concept of personalized therapy for melanoma patients based on their genetic response towards a chosen therapy. These diagnostic procedures facilitated identification of the mutations in some of the genes of high penetrance in melanoma like BRAF, NRAS, KIT, PTEN, etc. that further enabled the clinicians to target the associated MAP kinase and PI3K/Akt survival pathways for drug development.


Melanoma Genomic aberrations Fluorescent in-situ hybridization (FISH) Massively parallel sequencing Whole genome sequencing DNA copy number Single nucleotide extension assay 


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.System Toxicology and Health Risk Assessment GroupCSIR-Indian Institute of Toxicology Research (CSIR-IITR), MG MargLucknowIndia

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