Abstract
Melanocytic skin lesions can either be benign or malignant. Although pathologic examination often provides a final diagnosis, in a number of cases the morphology is ambiguous and the malignant potential of the lesion cannot be determined.
This uncertainty of the diagnosis has important consequences for the patients and the community. In case patients are incorrectly diagnosed with melanoma instead of a benign lesion, they will be subjected to unnecessary clinical examinations, psychological pressure and social disadvantages. On the other hand, patients with an incorrect diagnosis of a benign lesion instead of melanoma are insufficiently treated leading to a high risk of developing deadly metastatic disease.
In this project we aim to technically verify and clinically validate a molecular assay to predict the malignant potential of ambiguous melanocytic lesions for which proof-of-concept has ready been established. This assay is based on genome-wide copy number variation (CNV) analysis.
In a first phase we will finetune and standardize the proof-of-concept assay using a training set of 106 cases, enriched with ambiguous cases. The diagnostic accuracy and ideal cut-off will be determined and the performance of the assay will be verified in an independent test set of
76 ambiguous cases. The resulting assay, hereafter named AMELA assay (assay for Ambiguous MELanocytic skin lesions Analysis), will be validated in the second phase of the study.
In a second phase a prospective, observational multicenter study will be conducted. Samples of 552 patients with ambiguous lesions will be included. The clinical performance (accuracy, sensitivity and specificity) of the assay will be determined based on adverse events during 2 years of follow-up. In addition, the robustness of the assay and the potential financial impact on the society will be assessed
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