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Title: | Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics | Authors: | DELSUPEHE, Louis Steelandt, T Lemahieu, J Volders, PJ GEERDENS , Ellen Berden, S Daniels , A FROYEN, Guy MAES, Brigitte |
Issue Date: | 2023 | Publisher: | SPRINGER | Source: | VIRCHOWS ARCHIV, 485 , p. 269-279 | 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. | Keywords: | Dermatopathology;Gene fusion;Next-generation sequencing (NGS);Spitz nevus;Spitz tumour | Document URI: | http://hdl.handle.net/1942/43152 | ISSN: | 0945-6317 | e-ISSN: | 1432-2307 | DOI: | 10.1007/s00428-023-03649-9 | ISI #: | 001067339600001 | Rights: | The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023 | Category: | A1 | Type: | Journal Contribution |
Appears in Collections: | Research publications |
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