Highlights
- •Mutation analysis can be a diagnostic aid in determining the dignity in some spitzoid tumours.
- •Where no gene mutations are identified, translocation analysis should be considered.
- •Molecular analysis aids in identifying malignant tumours to be treated as melanoma.
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.
Keywords
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Article info
Publication history
Published online: March 24, 2021
Accepted:
February 11,
2021
Received:
February 4,
2021
Identification
Copyright
© 2021 Elsevier Ltd. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Re: Molecular pathology as a diagnostic aid in difficult to classify melanocytic tumours with spitzoid morphology: Melanocytic tumours with Spitz-like morphology: toward a therapy-oriented diagnostic approachEuropean Journal of CancerVol. 157
- PreviewZaremba et al. [1] have recently proposed a case-based approach to melanocytic tumours with ‘Spitz-like’ (cyto)morphology. Of the cases presented, two were ultimately diagnosed as ‘classical’ (spitzoid) melanoma because of harbouring melanoma-specific driver mutations (BRAF V00E in Case 1; NRAS Q61R in Case 3; both cases also disclosing additional TERT promoter mutation); the other two cases lacked any classical melanoma mutation, but were addressed to a management as per melanoma because of their striking histopathological features of atypia (allegedly, melanocytic tumours of uncertain malignant potential; MEL.T.U.M.P.).
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- Response to comment – Molecular pathology as a diagnostic aid in difficult to classify melanocytic tumours with spitzoid morphologyEuropean Journal of CancerVol. 157
- PreviewFerrara and Rizzo [1] comment on our recent publication presenting the utility of genetic profiling as an aid in determining the dignity of melanocytic tumours with spitzoid morphology. In general, the authors appear to agree with our findings and the way we interpreted them. In addition, they present their own case where genetic analysis was not deemed helpful for determining the tumours dignity.
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