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http://hdl.handle.net/1942/43152
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DC Field | Value | Language |
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dc.contributor.author | DELSUPEHE, Louis | - |
dc.contributor.author | Steelandt, T | - |
dc.contributor.author | Lemahieu, J | - |
dc.contributor.author | Volders, PJ | - |
dc.contributor.author | GEERDENS , Ellen | - |
dc.contributor.author | Berden, S | - |
dc.contributor.author | Daniels , A | - |
dc.contributor.author | FROYEN, Guy | - |
dc.contributor.author | MAES, Brigitte | - |
dc.date.accessioned | 2024-06-14T09:36:55Z | - |
dc.date.available | 2024-06-14T09:36:55Z | - |
dc.date.issued | 2023 | - |
dc.date.submitted | 2024-06-14T09:34:38Z | - |
dc.identifier.citation | VIRCHOWS ARCHIV, 485 , p. 269-279 | - |
dc.identifier.issn | 0945-6317 | - |
dc.identifier.uri | http://hdl.handle.net/1942/43152 | - |
dc.description.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. | - |
dc.description.sponsorship | The authors would like to thank the medical laboratory technologists of the Laboratory for Molecular Diagnostics for their technical contributions. We also acknowledge Anne-Marie Delsupehe for assistance in scanning of the tissue slides. | - |
dc.language.iso | en | - |
dc.publisher | SPRINGER | - |
dc.rights | The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023 | - |
dc.subject.other | Dermatopathology | - |
dc.subject.other | Gene fusion | - |
dc.subject.other | Next-generation sequencing (NGS) | - |
dc.subject.other | Spitz nevus | - |
dc.subject.other | Spitz tumour | - |
dc.title | Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 279 | - |
dc.identifier.spage | 269 | - |
dc.identifier.volume | 485 | - |
local.format.pages | 11 | - |
local.bibliographicCitation.jcat | A1 | - |
local.publisher.place | ONE NEW YORK PLAZA, SUITE 4600 , NEW YORK, NY 10004, UNITED STATES | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
dc.identifier.doi | 10.1007/s00428-023-03649-9 | - |
dc.identifier.pmid | 37731064 | - |
dc.identifier.isi | 001067339600001 | - |
dc.identifier.eissn | 1432-2307 | - |
local.provider.type | Web of Science | - |
local.uhasselt.international | no | - |
item.fullcitation | DELSUPEHE, Louis; Steelandt, T; Lemahieu, J; Volders, PJ; GEERDENS , Ellen; Berden, S; Daniels , A; FROYEN, Guy & MAES, Brigitte (2023) Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics. In: VIRCHOWS ARCHIV, 485 , p. 269-279. | - |
item.fulltext | With Fulltext | - |
item.contributor | DELSUPEHE, Louis | - |
item.contributor | Steelandt, T | - |
item.contributor | Lemahieu, J | - |
item.contributor | Volders, PJ | - |
item.contributor | GEERDENS , Ellen | - |
item.contributor | Berden, S | - |
item.contributor | Daniels , A | - |
item.contributor | FROYEN, Guy | - |
item.contributor | MAES, Brigitte | - |
item.accessRights | Restricted Access | - |
crisitem.journal.issn | 0945-6317 | - |
crisitem.journal.eissn | 1432-2307 | - |
Appears in Collections: | Research publications |
Files in This Item:
File | Description | Size | Format | |
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s00428-023-03649-9.pdf Restricted Access | Published version | 2.3 MB | Adobe PDF | View/Open Request a copy |
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