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Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics.

Author information

Affiliations

  • 1. Laboratory for Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, Hasselt, Belgium.
      Authors
    • Delsupehe L 1
    • Volders PJ 1
    • Geerdens E 1
    • Berden S 1
    • Daniels A 1
    • Froyen G 1
    • Maes B 1
    (7 authors)
  • 2. Laboratory of Pathological Anatomy, Jessa Hospital, Hasselt, Belgium.
      Authors
    • Steelandt T 2
    (1 author)
  • 3. Laboratory for Dermatopathology, Dermpat, Ghent, Belgium.
      Authors
    • Lemahieu J 3
    (1 author)

ORCIDs linked to this article

Virchows Archiv : an International Journal of Pathology, 21 Sep 2023, 485(2):269-279
https://doi.org/10.1007/s00428-023-03649-9 PMID: 37731064 

Abstract 

In addition to morphologic analysis, molecular diagnostic work up of Spitz tumours is often of great value for their accurate diagnosis/classification. Nowadays, next-generation sequencing (NGS) is the predominant screening method in molecular diagnostics. Up to 80% of these melanocytic neoplasms comprise gene fusions as genetic anomalies for which the driver codes for a protein harbouring a kinase domain. However, because of the variety of fusion partners the use of PCR-based targeted enrichment NGS methods is not recommended. We describe a series of four Spitz tumour samples in which distinct gene fusions were detected by hybridisation-based capture NGS (TPM3::ALK, LIMA1::ROS1, LRRFIP2::ROS1 and MYO5A::RET). Two of these fusions are not previously described. All 4 fusions were confirmed by reverse transcription-PCR. These findings demonstrate the need for molecular analysis that can detect unknown fusions in Spitz neoplasms for optimal diagnosis.

Full text links 

Read article at publisher's site: https://doi.org/10.1007/s00428-023-03649-9

References 

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