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


Authors: Zaremba, A.; Lodde, G.; Murali, R.; Philip, M.; Cosgarea, I.; Jansen, P.; Chorti, E.; Rose, C.; Hemmerlein, B.; Matull, J.; Thielmann, C. M.; Kretz, J.; Möller, I.; Sucker, A.; Paschen, A.; Livingstone, E.; Zimmer, L.; Horn, S.; Schadendorf, D.; Hadaschik, E.; Griewank, K.
Article Title: Molecular pathology as a diagnostic aid in difficult-to-classify melanocytic tumours with spitzoid morphology
Abstract: 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. © 2021 Elsevier Ltd
Keywords: spitz nevus; malignant melanoma; spitzoid melanoma; borderline tumour; mutation profiling; atypical spitzoid lesion
Journal Title: European Journal of Cancer
Volume: 148
ISSN: 0959-8049
Publisher: Elsevier Inc.  
Date Published: 2021-05-01
Start Page: 340
End Page: 347
Language: English
DOI: 10.1016/j.ejca.2021.02.025
PROVIDER: scopus
PMCID: PMC8087654
PUBMED: 33773277
DOI/URL:
Notes: Article -- Export Date: 3 May 2021 -- Source: Scopus
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  1. Rajmohan Murali
    219 Murali