Real world validation of an adjunctive gene expression-profiling assay for melanoma diagnosis and correlation with clinical outcomes at an academic center.

A commercially available diagnostic gene expression profiling (GEP) assay (MyPath™) reportedly has high sensitivity and specificity in distinguishing nevi from melanoma based on manufacturer-conducted studies. However, data regarding the performance of this GEP assay in routine clinical practice are lacking. The purpose of this study was to better assess the real-world performance of GEP in a large academic practice. Retrospective review of GEP scores were compared with final histomorphologic interpretation on a wide spectrum of melanocytic lesions demonstrating some degree of atypia. In a sample of 369 lesions, the sensitivity (76.1%) and specificity (83.9%) of the GEP test as compared with final dermatopathologist-rendered diagnosis in our dataset was appreciably lower than that reported in the prior manufacturer-conducted validation studies. Limitations of this study were that it was a single-center study, its retrospective nature, nonblinded nature of GEP test result, concordance of only two pathologists, and limited follow-up time.The sensitivity and specificity of a commercially available GEP diagnostic assay for melanoma may be lower in routine clinical practice, where melanocytic lesions typically exhibit some degree of histomorphologic atypia. Reported cost effectiveness of GEP testing is questionable if all ambiguous lesions that undergo such testing are re-excised in clinical practice.

A Rare Case of Primary Cutaneous Signet-Ring Cell Melanoma With Discrepant Findings on Gene Expression Profiling and Chromosomal Microarray Analysis.

ABSTRACT: Melanoma with signet ring cell features is an exceptionally rare variant of primary cutaneous and metastatic melanoma. The molecular mechanisms underlying this unusual cytologic phenotype in malignant melanocytes are largely unknown. In this report, we aim to add to the literature by describing the histomorphological, immunophenotypic, gene expression, and cytogenetic findings in 1 recently encountered case.

Antecedent immunosuppressive therapy for immune-mediated inflammatory diseases in the setting of a COVID-19 outbreak.

BACKGROUND: Finite clinical data and understanding of COVID-19 immunopathology has led to limited, opinion-based recommendations for the management of patients with immune-mediated inflammatory disease (IMID) receiving immunosuppressive (IS) therapeutics. OBJECTIVE: To determine if IS therapeutic type affects COVID-19 risk among patients with IMID. METHODS: We conducted a retrospective cohort analysis of Henry Ford Health System patients tested for COVID-19 between February 1 and April 18, 2020, treated with IS medication for IMID. Therapeutic class of IS medication, comorbidities, and demographic factors were combined into multivariate models to determine predictors of COVID-19 infection, admission, ventilation, and mortality. RESULTS: Of 213 patients with IMID, 36.2% tested positive for COVID-19, and they had no greater odds of being hospitalized or requiring ventilation relative to the general population. No IS therapeutic worsened the course of disease after multivariate correction, although multidrug regimens and biologics predicted an increased and decreased rate of hospitalization, respectively, with the latter driven by tumor necrosis factor α inhibitors. LIMITATIONS: A single-center study somewhat limits the generalization to community-based settings. Only patients tested for COVID-19 were analyzed. CONCLUSION: IS therapies for IMIDs are not associated with a significantly greater risk of SARS-CoV-2 or severe sequelae when controlling for other factors, and tumor necrosis factor α inhibitors may decrease the odds of severe infection.

Compliance with serial dermoscopic monitoring: An academic perspective.

BACKGROUND: For even seasoned practitioners, early melanomas can be difficult to distinguish from melanocytic nevi. Although serial digital dermoscopy is considered by many to be the gold standard for monitoring patients at high risk, poor compliance can seriously alter efficacy. In 2014, a concerning compliance rate of 25% was reported from a single, private clinic. Information is currently limited regarding the determinants of compliance and whether patients at high risk return at an acceptable rate. OBJECTIVE: We sought to determine the compliance rate within the pigmented lesions clinic at our academic institution and identify demographic variables that may influence adherence. METHODS: A retrospective review was conducted using 120 patient charts. RESULTS: An overall compliance rate of 87.5% was observed with 63.3% of patients returning within 1 month of the recommended interval. The most notable risk factor for noncompliance was patient age between 20 and 29 years. Factors promoting adherence include a personal history of melanoma, greater than 5 serially monitored nevi, and a personal history of atypical nevi. LIMITATIONS: The external validity is limited and the sample size is small. CONCLUSION: These findings contradict concerns that adherence to serial monitoring is unacceptably poor and demonstrate that compliance is highest for patients with the greatest inherent risk.