Molecular pathology as a diagnostic aid in difficult-to-classify melanocytic tumours with spitzoid morphology.

Accurate classification of melanocytic proliferations has important implications for prognostic prediction, treatment and follow-up. Although most melanocytic proliferations can be accurately classified using clinical and pathological criteria, classification (specifically distinction between nevus and melanoma) can be challenging in a subset of cases, including those with spitzoid morphology. Genetic studies have shown that mutation profiles differ between primary melanoma subtypes and Spitz nevi. These differences may aid in distinguishing benign from malignant in some melanocytic tumours. Here, we present a selection of melanocytic proliferations with equivocal histopathological criteria, wherein genetic analysis was requested to help guide classification. In two of four cases, the genetic results offered valuable insights, allowing a definitive diagnosis, indicating the diagnostic value of mutation profiling in a real-world routine clinical setting. Although histopathological assessment remains decisive in melanocytic proliferation classification, we recommend including genetic profiling in cases of borderline or atypical lesion to support accurate classification.

Informations de copyright

Copyright © 2021 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of interest statement The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: A.Z. received travel support from Novartis, Sanofi Genzyme and Bristol Myers Squibb (BMS), outside the submitted work. G.L. received travel support from Sun Pharma, outside the submitted work. R.M. reports no relevant conflicts of interest. M.P. reports no relevant conflicts of interest. I.C. reports no relevant conflicts of interest. P.J. reports no relevant conflicts of interest. E.C. received travel support from BMS, Merck Sharp & Dohme (MSD) and Novartis, outside the submitted work. C.R. reports no relevant conflicts of interest. B.H. reports no relevant conflicts of interest. J.M. received travel support from BMS, Novartis and Sun Pharmaceutical Industries, outside the submitted work. C.M.T. reports no relevant conflicts of interest. J.K. reports no relevant conflicts of interest. I.M. reports no relevant conflicts of interest. A.S. reports no relevant conflicts of interest. A.P. reports no relevant conflicts of interest. E.L. served as a consultant for and/or has received honoraria from Amgen, Actelion, Roche, BMS, MSD, Novartis, Janssen, Medac, Sanofi and Sun Pharma and reports travel support from Amgen, MSD, BMS, Amgen, Pierre Fabre, Sun Pharma and Novartis, outside the submitted work. L.Z. served as a consultant for and/or has received honoraria from Roche, BMS, MSD, Novartis, Pierre Fabre, Sanofi and Sun Pharma and reports travel support from MSD, BMS, Amgen, Pierre Fabre, Sun Pharma and Novartis, outside the submitted work. S.H. reports no relevant conflicts of interest. D.S. reports grants and other from BMS and personal fees from BMS, during the conduct of the study; personal fees from Amgen; personal fees from Boehringer Ingelheim; personal fees from InflaRx; personal fees and other from Roche; grants, personal fees and other from Novartis; personal fees from Incyte; personal fees and other from Regeneron; personal fees from 4SC; personal fees from Sanofi; personal fees from NeraCare; personal fees from Pierre Fabre; personal fees and other from Merck-EMD; personal fees from Pfizer; personal fees and other from Philogen; personal fees from Array and personal fees and other from MSD, outside the submitted work. E.H. reports no relevant conflicts of interest. K.G. reports no relevant conflicts of interest.