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Consensus Statement
July 29, 2020

Prognostic Gene Expression Profiling in Cutaneous Melanoma: Identifying the Knowledge Gaps and Assessing the Clinical Benefit

Author Affiliations
  • 1Huntsman Cancer Institute, Salt Lake City, Utah
  • 2Department of Dermatology, University of Utah, Salt Lake City
  • 3Department of Oncological Sciences, University of Utah, Salt Lake City
  • 4Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York
  • 5Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York
  • 6Fred Hutchinson Cancer Research Center, Seattle, Washington
  • 7Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts
  • 8Department of Dermatology, Harvard Medical School, Boston, Massachusetts
  • 9Department of Dermatology and Knight Cancer Institute, Oregon Health & Science University, Portland
  • 10Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland
  • 11Department of Data Sciences, Harvard Medical School, Boston, Massachusetts
  • 12Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston
  • 13Departments of Dermatology and Internal Medicine, University of New Mexico Cancer Center, University of New Mexico, Albuquerque
  • 14Department of Surgery, Division of Surgical Oncology, University of Utah, Salt Lake City
  • 15Department of Internal Medicine, Harvard Medical School, Boston, Massachusetts
  • 16Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston
  • 17Department of Dermatology, Perelman School of Medicine University of Pennsylvania, Philadelphia
  • 18Department of Dermatology and University of Arizona Cancer Center, University of Arizona, Tucson
  • 19Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco
  • 20Department of Hematology/Oncology, University of California, San Francisco
  • 21Department of Dermatology and University of Pittsburgh Clinical and Translational Science Institute, Pittsburgh, Pennsylvania
  • 22Department of Medicine, Division of Oncology, University of Utah, Salt Lake City
  • 23Department of Internal Medicine and The Ohio State University Comprehensive Cancer Center, Columbus
  • 24Department of Dermatology, Tufts Medical Center, Boston, Massachusetts
  • 25Partners Healthcare, Newton Wellesley Dermatology Associates, Wellesley, Massachusetts
  • 26Department of Internal Medicine and UPMC Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania
  • 27Department of Hematology and Medical Oncology, Emory University School of Medicine, Winship Cancer Institute of Emory University, Atlanta, Georgia
  • 28Cincinnati Cancer Advisors, Cincinnati, Ohio
  • 29Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia
  • 30Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
  • 31Department of Medical Oncology, Royal North Shore Hospital, Sydney, New South Wales, Australia
  • 32Charles Perkins Centre, The University of Sydney, Sydney, Australia
  • 33Department of Medical Oncology, Robert Wood Johnson University Hospital, New Brunswick, New Jersey
  • 34Rutgers Cancer Institute of New Jersey, New Brunswick
  • 35Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston
  • 36Department of Dermatology, Ronald O. Perelman Department of Dermatology, Laura and Isaac Perlmutter Cancer Center, NYU Langone Health, New York University School of Medicine, New York, New York
  • 37Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, New South Wales, Australia
  • 38Department of Pathology, University of Utah, Salt Lake City
  • 39Department of Cutaneous Oncology, Moffitt Cancer Center & Research Institute, Tampa, Florida
  • 40Department of Oncologic Sciences, University of South Florida Morsani College of Medicine, Tampa
  • 41The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Australia
  • 42Department of Oncology, University of Washington, Seattle
  • 43Seattle Cancer Care Alliance, Seattle, Washington
  • 44Department of Melanoma and Surgical Oncology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  • 45Inova Schar Cancer Institute, Department of Medicine, Virginia Commonwealth University, Fairfax
  • 46Department of Dermatology, University of California, San Francisco
  • 47Dermatology Service, Veterans Affairs Medical Center, San Francisco, California
  • 48Stanford University Medical Center and Cancer Institute, Stanford, California
  • 49Dermatology Service, Veterans Affairs Palo Alto Health Care System, Palo Alto, California
JAMA Dermatol. Published online July 29, 2020. doi:10.1001/jamadermatol.2020.1729
Key Points

Question  What evidence is needed for incorporation of prognostic gene expression profile (GEP) testing into clinical practice for patients with melanoma?

Findings  Findings of GEP testing are needed from large, representative patient cohorts with adequate clinical follow-up to enable statistical modeling and validation, and these findings must be compared with known relevant melanoma clinicopathologic factors. The currently published evidence is insufficient to establish that routine use of GEP testing provides additional clinical value for melanoma staging and prognostication beyond available clinicopathologic variables.

Meaning  Before GEP testing is routinely used, the clinical benefit to the management of patients with melanoma must be established through further clinical investigation.


Importance  Use of prognostic gene expression profile (GEP) testing in cutaneous melanoma (CM) is rising despite a lack of endorsement as standard of care.

Objective  To develop guidelines within the national Melanoma Prevention Working Group (MPWG) on integration of GEP testing into the management of patients with CM, including (1) review of published data using GEP tests, (2) definition of acceptable performance criteria, (3) current recommendations for use of GEP testing in clinical practice, and (4) considerations for future studies.

Evidence Review  The MPWG members and other international melanoma specialists participated in 2 online surveys and then convened a summit meeting. Published data and meeting abstracts from 2015 to 2019 were reviewed.

Findings  The MPWG members are optimistic about the future use of prognostic GEP testing to improve risk stratification and enhance clinical decision-making but acknowledge that current utility is limited by test performance in patients with stage I disease. Published studies of GEP testing have not evaluated results in the context of all relevant clinicopathologic factors or as predictors of regional nodal metastasis to replace sentinel lymph node biopsy (SLNB). The performance of GEP tests has generally been reported for small groups of patients representing particular tumor stages or in aggregate form, such that stage-specific performance cannot be ascertained, and without survival outcomes compared with data from the American Joint Committee on Cancer 8th edition melanoma staging system international database. There are significant challenges to performing clinical trials incorporating GEP testing with SLNB and adjuvant therapy. The MPWG members favor conducting retrospective studies that evaluate multiple GEP testing platforms on fully annotated archived samples before embarking on costly prospective studies and recommend avoiding routine use of GEP testing to direct patient management until prospective studies support their clinical utility.

Conclusions and Relevance  More evidence is needed to support using GEP testing to inform recommendations regarding SLNB, intensity of follow-up or imaging surveillance, and postoperative adjuvant therapy. The MPWG recommends further research to assess the validity and clinical applicability of existing and emerging GEP tests. Decisions on performing GEP testing and patient management based on these results should only be made in the context of discussion of testing limitations with the patient or within a multidisciplinary group.

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