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

Lookup NU author(s): Dr Ioana Cosgarea


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© 2021 Elsevier LtdAccurate 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.

Publication metadata

Author(s): Zaremba A, Lodde G, Murali R, Philip M, Cosgarea I, Jansen P, Chorti E, Rose C, Hemmerlein B, Matull J, Thielmann CM, Kretz J, Moller I, Sucker A, Paschen A, Livingstone E, Zimmer L, Horn S, Schadendorf D, Hadaschik E, Griewank K

Publication type: Article

Publication status: Published

Journal: European Journal of Cancer

Year: 2021

Volume: 148

Pages: P340-347

Print publication date: 01/05/2021

Online publication date: 24/03/2021

Acceptance date: 11/02/2021

ISSN (print): 0959-8049

ISSN (electronic): 1879-0852

Publisher: Elsevier Ltd


DOI: 10.1016/j.ejca.2021.02.025


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