Gene Expression Profile of Benign, Intermediate, and Malignant Spitz and Spitzoid Melanocytic Lesions

Alessio Giubellino, Yuyu He, Sarah A Munro, Yan Zhou, Kyu Young Song, Jose A. Plaza, Carlos A. Torres-Cabala, Andrew C Nelson

Research output: Contribution to journalArticlepeer-review


Spitz and Spitzoid lesions represent one of the most challenging melanocytic neoplasms in dermatopathology. Nosologic classification has been more recently improved by the discovery of novel molecular drivers, particularly translocations. In the current study, we aimed to use an unbiased approach to explore the gene expression profile of a group of melanocytic Spitz and Spitzoid melanocytic lesions ranging from benign lesions to melanoma, including intermediate lesions such as SPARK nevi and atypical Spitz tumors/melanocytomas. Using unsupervised analysis of gene expression data, we found some distinct hierarchical clusters of lesions, including groups characterized by ALK and NTRK translocations. Few non-ALK translocated tumors demonstrated increased ALK expression, confirmed by immunohistochemistry. Spitz tumors with overlapping features of dysplastic nevi, so-called SPARK nevi, appear to have a common gene expression profile by hierarchical clustering. Finally, weighted gene correlation network analysis identified gene modules variably regulated in subtypes of these cases. Thus, gene expression profiling of Spitz and Spitzoid lesions represents a viable instrument for the characterization of these lesions.

Original languageEnglish (US)
Article number1798
Issue number10
StatePublished - May 2024

Bibliographical note

Publisher Copyright:
© 2024 by the authors.


  • melanoma
  • nevus
  • RNA-sequencing
  • Spitz
  • Spitzoid

PubMed: MeSH publication types

  • Journal Article


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