Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics
Virchows Archiv : an international journal of pathology(2023)
摘要
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.
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关键词
Dermatopathology,Gene fusion,Next-generation sequencing (NGS),Spitz nevus,Spitz tumour
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