11/9/2023 0 Comments Inform diagnostics julie reimann![]() ![]() Histopathologic evaluation of melanocytic neoplasms allows for accurate classification of the majority of cases as either benign or malignant. Studies with long-term outcomes data within specific ambiguous lesion subsets are required to establish the accuracy of this test, as each molecular diagnostic technique has limitations based on both lack of clinical outcomes data in ambiguous melanocytic tumors and in terms of their sensitivity and specificity in melanocytic lesion subtypes. Our findings document that molecular diagnostics show good correlation with consensus diagnoses, but discordant results occur, and vary in level of correlation with consensus interpretations. SNP-array results correlated better than FISH, which correlated better than myPath, with the morphologic interpretation. Cases from both groups in which myPath was discordant with either morphologic diagnosis and/or FISH (81/268 cases), were submitted for evaluation by two experienced dermatopathologist and also by SNP-array. Sensitivity and specificity of FISH was 61 and 100%, 50 and 93% for myPath, respectively. For these cases agreement with histopathologic interpretation was 84% for FISH and 74% for myPath. In the ambiguous group, FISH and myPath showed 69% inter-test agreement. In the unequivocal group, myPath assay showed 75% agreement with morphologic diagnosis, with 67% sensitivity and 81% specificity. The myPath assay was scored by the manufacturer as benign, indeterminate, or malignant. Melanoma FISH was performed using probes for 6p25, 6q23, 11q13, Cep6, 9p21, and Cep9 and scored according to established criteria. Two hundred and sixty-eight prospectively submitted cases were gathered, with the goal of comparing the myPath assay to morphologic diagnosis in (1) morphologically unequivocal cases (198), and to morphologic diagnosis and FISH in (2) morphologically ambiguous cases (70). Therefore molecular assays, including FISH or SNP array, and more recently a gene expression test (myPath, Myriad Genetics) have been proposed to aid in the work-up of ambiguous tumors. While most melanomas can be distinguished from nevi by histopathology, the histology is ambiguous for some melanocytic tumors, contributing to diagnostic uncertainty.
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