Abstract

To decrease morbidity and mortality from melanoma, it is imperative to identify patients who are at high risk for developing widespread disease. Gene expression profiling (GEP) technology may impact melanoma management as physicians are better equipped to measure prognosis. Many different GEP signatures have been investigated. We searched Pubmed, Cochrane CENTRAL, and Embase for studies on GEP in primary melanoma prognosis and assessed GEP signatures for prognostic and analytic validity and clinical impact. The relationship between GEP and survival was measured using hazard ratios (HR) and odds ratios (OR). We found twenty-nine articles comprising 9 gene signatures meeting inclusion criteria and conducted a meta-analysis on 6 studies on a 31-gene signature. High-risk GEP status was associated with poorer recurrence-free survival (HR=7.22; 95% CI, 4.75-10.98), distant metastasis-free survival (HR=6.62; 95% CI, 4.91-8.91), and overall survival (HR=7.06; 95% CI, 4.44-11.22); as well as sentinel lymph node biopsy positivity (OR=2.99; 95% CI, 2.15-4.15). With recent improvements in treating advanced melanoma, accurately assessing prognosis is important. This study has clinical implications for melanoma patients who may benefit from prognostic testing. These results may be useful to clinicians when ordering GEP testing and help them make better management decisions.

Highlights

  • Melanoma has the highest mortality among all skin cancer types

  • 243 Gene In Alonso et al, 34 archival melanoma samples with a mean follow-up time of 67 months were analyzed.[2]. They found 206 upregulated and 37 downregulated genes that were differentially expressed based on nodal status. The authors classified these genes based on the mechanism of action or biological function and decided to focus on genes related to epithelial-mesenchymal transition (EMT)

  • 127 archival samples with a mean follow-up time of 117 months were analyzed to determine which EMT genes were significantly associated with relapse-free survival (RFS)

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Summary

Introduction

Melanoma has the highest mortality among all skin cancer types. There will be an estimated 96,000 new cases of melanoma diagnosed in 2019 and over 7,000 deaths.[1] Assessment of prognosis is critical in melanoma management. Management plans may influence survival outcomes depending on whether less frequent intervention or more aggressive follow up is chosen. Clinicians should be knowledgeable in issues critical to an accurate assessment of melanoma prognosis to achieve optimal patient management. Gene expression profiling (GEP) is one form of genomic testing that can be used immediately after diagnosis to prognosticate melanoma outcomes. GEP samples RNA and DNA from a lesion to assess genetic characteristics, and the results can be used to guide further management. Several GEP tests have been described in the literature and some are commercially available

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