21.09.2023 | Original Article
Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics
verfasst von:
Louis Delsupehe, Thomas Steelandt, Julie Lemahieu, Pieter-Jan Volders, Ellen Geerdens, Severine Berden, Annick Daniels, Guy Froyen, Brigitte Maes
Erschienen in:
Virchows Archiv
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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.