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Evaluating melanocytic lesions with single nucleotide polymorphism (SNP) chromosomal microarray.

Amin A Hedayat1, Konstantinos Linos1, Hou-Sung Jung1

  • 1Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, NH, United States.

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|November 25, 2017
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Summary

Single nucleotide polymorphism (SNP) microarray analysis aids in diagnosing ambiguous melanocytic lesions. This method accurately detects copy number changes, improving diagnostic clarity for challenging cases.

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Area of Science:

  • Oncology
  • Genetics
  • Dermatopathology

Background:

  • Histopathology is the standard for diagnosing melanocytic lesions, but differentiation can be challenging.
  • Ambiguous cases require advanced diagnostic tools for accurate classification.

Purpose of the Study:

  • To evaluate the diagnostic utility of the OncoScan Single Nucleotide Polymorphism (SNP) microarray assay.
  • To assess the assay's ability to diagnose challenging melanocytic lesions.

Main Methods:

  • Analyzed eleven archival melanocytic lesions using the OncoScan FFPE Assay.
  • Validated SNP array findings against H&E staining, immunohistochemistry (BAP1, p16), and external chromosomal microarray results.
  • Utilized the assay for definitive diagnoses in four complex cases.

Main Results:

  • OncoScan SNP array results showed concordance with established diagnostic methods (H&E, IHC, reference microarray).
  • The assay accurately detected copy number variations in melanocytic lesions.
  • Successful diagnosis was achieved with as little as 15ng of DNA.

Conclusions:

  • The OncoScan SNP microarray assay is a valuable tool for diagnosing ambiguous melanocytic lesions.
  • This technology provides accurate copy number change detection, aiding definitive diagnoses.
  • The assay requires significantly less DNA compared to other microarray technologies.