An Update Regarding the Molecular Genetics of Melanocytic Neoplasms and the Current Applications of Molecular Genetic Technologies in Their Diagnosis and Treatment

Katrin Kiavash; Martin H Bluth; Andrew David Thompson

doi:10.1016/j.cll.2018.02.002

An Update Regarding the Molecular Genetics of Melanocytic Neoplasms and the Current Applications of Molecular Genetic Technologies in Their Diagnosis and Treatment

Clin Lab Med. 2018 Jun;38(2):385-399. doi: 10.1016/j.cll.2018.02.002.

Authors

Katrin Kiavash¹, Martin H Bluth², Andrew David Thompson³

Affiliations

¹ Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA; Department of Pathology and Laboratory Medicine, Detroit Medical Center University Laboratories, 4160 John R Street, Detroit, MI 48201, USA.
² Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA; Department of Pathology, Wayne State University, School of Medicine, 540 East Canfield Street, Detroit, MI 48201, USA; Pathology Laboratories, Michigan Surgical Hospital, 21230 Dequindre Road, Warren, MI 48091, USA.
³ Department of Pathology, Wayne State University, 4160 John R Street, Detroit, MI 48201, USA; Department of Pathology and Laboratory Medicine, Detroit Medical Center University Laboratories, 4160 John R Street, Detroit, MI 48201, USA. Electronic address: athompso2@dmc.org.

PMID: 29776637
DOI: 10.1016/j.cll.2018.02.002

Abstract

Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations. Cutting-edge technologies, including next-generation sequencing and cell-free nucleic acid analysis, are promising biomarker applications for mutation detection towards personalized patient management.

Keywords: Cell-free nucleic acid analysis; Comparative genomic hybridization; Fluorescence in situ hybridization; Melanoma; Next-generation sequencing; Programmed death receptor; Spitz tumor.

Publication types

Review

MeSH terms

Cell-Free Nucleic Acids / analysis
Comparative Genomic Hybridization
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Melanoma* / diagnosis
Melanoma* / genetics
Molecular Diagnostic Techniques*
Skin Neoplasms* / diagnosis
Skin Neoplasms* / genetics

Substances

Cell-Free Nucleic Acids