Melanoma pp 629-650 | Cite as

Molecular Diagnostics in Melanocytic Neoplasia

  • Jeffrey P. NorthEmail author
Reference work entry


Ancillary molecular tests have been developed to assist in the diagnosis of histopathologically ambiguous tumors and as prognostic tools in melanoma. These include DNA-based assays such as comparative genomic hybridization (CGH), fluorescent in situ hybridization (FISH), and next generation sequencing, as well as RNA-based tests including gene expression profiling and microRNA analysis. Protein-based techniques such as immunohistochemistry and mass spectrometry are also available, with immunohistochemistry representing the mostly widely available and highly utilized modality in melanoma diagnostic testing. Each type of test has strengths and limitations. Many of them are expensive (>$1000) and require proper resources and expertise to perform. Familiarity with the available testing options combined with knowledge of genetic and histopathologic features of the various types of melanocytic tumors allows for judicious use of molecular testing to increase diagnostic accuracy and provide valuable prognostic information. Molecular tests can also be used to guide treatment decisions in the expanding era of precision medicine where treatment is based on individual tumor characteristics rather than summary clinical trial data.


Comparative genomic hybridization CGH Fluorescent in situ hybridization FISH DNA sequencing Gene expression analysis Immunohistochemistry MicroRNA Mass spectrometry 


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Departments of Dermatology and PathologyUniversity of CaliforniaSan FranciscoUSA

Section editors and affiliations

  • Keith T. Flaherty
    • 1
  • Boris C. Bastian
    • 2
  • Hensin Tsao
    • 3
    • 4
  • F. Stephen Hodi
    • 5
    • 6
  1. 1.Henri and Belinda Termeer Center for Targeted TherapiesMGH Cancer CenterCambridgeUSA
  2. 2.Departments of Dermatology and Pathology, Helen Diller Family Comprehensive Cancer CenterUniversity of California, San FranciscoSan FranciscoUSA
  3. 3.AuburndaleUSA
  4. 4.Harvard-MIT Health Sciences and TechnologyCambridgeUSA
  5. 5.FraminghamUSA
  6. 6.Department of Medicine, Brigham and Women's HospitalDana-Farber Cancer InstituteBostonUSA

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