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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 | Ausgabe 2/2024

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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.

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Titel: 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
Publikationsdatum: 21.09.2023
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 2/2024
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-023-03649-9

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Springer Medizin

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Abstract

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