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Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm. | LitMetric

AI Article Synopsis

  • Spitz melanocytic neoplasms often have chromosomal rearrangements that lead to recurring gene fusions, primarily involving ALK, with key partners like TPM3 and DCTN1.
  • While ALK fusions are mainly linked to Spitz nevi and atypical Spitz tumors, occurrences in Spitz melanoma are very rare.
  • This study presents a unique case of Spitz melanoma featuring an SLC20A1::ALK fusion, alongside various chromosomal changes typical of melanoma and a mutation in GRM3.

Article Abstract

Spitz melanocytic neoplasms exhibit frequent chromosomal rearrangements leading to recurring gene fusions, such as ALK fusions. TPM3 and DCTN1 emerge as the predominant fusion partners of ALK , although less common partners such as NPM1 , TPR , CLIP1 , GTF3C2 , MLPH , EEF2 , MYO5A , and KANK1 have also been documented. Although ALK fusions are primarily associated with Spitz nevi or atypical Spitz tumors, instances of Spitz melanoma with ALK fusions documented in the English literature are exceedingly rare. Here, we present a case of Spitz melanoma harboring SLC20A1::ALK fusion, highlighting a novel fusion transcript not previously reported in Spitz melanocytic neoplasms, including Spitz melanomas. In addition, the tumor exhibits multiple aberrant chromosomal alterations characteristic of melanoma, along with a somatic mutation in GRM3 .

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Source
http://dx.doi.org/10.1097/DAD.0000000000002778DOI Listing

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