{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(2)"],"submitter":["Neumann O"],"pubmed_abstract":["Intrahepatic cholangiocarcinoma harbours druggable genetic lesions including FGFR2 gene fusions. Reliable and accurate detection of these fusions is becoming a critical component of the molecular work-up, but real-world data on the performance of fluorescence in situ hybridisation (FISH) and targeted RNA-based next-generation sequencing (NGS) are very limited. Bridging this gap, we report results of the first round robin test for FGFR2 fusions in cholangiocarcinoma and contextualise test data with genomic architecture. A cohort of 10 cholangiocarcinoma (4 fusion positive and 6 fusion negative) was tested by the Institute of Pathology, University Hospital Heidelberg, Germany. Data were validated by four academic pathology departments in Germany. Fusion-positive cases comprised FGFR2::BICC1,"],"journal":["The journal of pathology. Clinical research"],"pagination":["100-107"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9896158"],"repository":["biostudies-literature"],"pubmed_title":["First proficiency testing for NGS-based and combined NGS- and FISH-based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma."],"pmcid":["PMC9896158"],"pubmed_authors":["Lehmann U","Albrecht T","Ilm K","Walker M","Goldschmid H","Weichert W","Stenzinger A","Christmann J","Volckmar AL","Bartels S","Schirmacher P","Pfarr N","Neumann O","Kirchner M","Kreipe H","Tannapfel A","Kazdal D","Allgauer M"],"additional_accession":[]},"is_claimable":false,"name":"First proficiency testing for NGS-based and combined NGS- and FISH-based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma.","description":"Intrahepatic cholangiocarcinoma harbours druggable genetic lesions including FGFR2 gene fusions. Reliable and accurate detection of these fusions is becoming a critical component of the molecular work-up, but real-world data on the performance of fluorescence in situ hybridisation (FISH) and targeted RNA-based next-generation sequencing (NGS) are very limited. Bridging this gap, we report results of the first round robin test for FGFR2 fusions in cholangiocarcinoma and contextualise test data with genomic architecture. A cohort of 10 cholangiocarcinoma (4 fusion positive and 6 fusion negative) was tested by the Institute of Pathology, University Hospital Heidelberg, Germany. Data were validated by four academic pathology departments in Germany. Fusion-positive cases comprised FGFR2::BICC1,","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Mar","modification":"2026-05-28T11:51:59.036Z","creation":"2025-04-07T03:22:09.357Z"},"accession":"S-EPMC9896158","cross_references":{"pubmed":["36635225"],"doi":["10.1002/cjp2.308"]}}