<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>9(2)</volume><submitter>Neumann O</submitter><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,</pubmed_abstract><journal>The journal of pathology. Clinical research</journal><pagination>100-107</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC9896158</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>First proficiency testing for NGS-based and combined NGS- and FISH-based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma.</pubmed_title><pmcid>PMC9896158</pmcid><pubmed_authors>Lehmann U</pubmed_authors><pubmed_authors>Albrecht T</pubmed_authors><pubmed_authors>Ilm K</pubmed_authors><pubmed_authors>Walker M</pubmed_authors><pubmed_authors>Goldschmid H</pubmed_authors><pubmed_authors>Weichert W</pubmed_authors><pubmed_authors>Stenzinger A</pubmed_authors><pubmed_authors>Christmann J</pubmed_authors><pubmed_authors>Volckmar AL</pubmed_authors><pubmed_authors>Bartels S</pubmed_authors><pubmed_authors>Schirmacher P</pubmed_authors><pubmed_authors>Pfarr N</pubmed_authors><pubmed_authors>Neumann O</pubmed_authors><pubmed_authors>Kirchner M</pubmed_authors><pubmed_authors>Kreipe H</pubmed_authors><pubmed_authors>Tannapfel A</pubmed_authors><pubmed_authors>Kazdal D</pubmed_authors><pubmed_authors>Allgauer M</pubmed_authors></additional><is_claimable>false</is_claimable><name>First proficiency testing for NGS-based and combined NGS- and FISH-based detection of FGFR2 fusions in intrahepatic cholangiocarcinoma.</name><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,</description><dates><release>2023-01-01T00:00:00Z</release><publication>2023 Mar</publication><modification>2026-05-28T11:51:59.036Z</modification><creation>2025-04-07T03:22:09.357Z</creation></dates><accession>S-EPMC9896158</accession><cross_references><pubmed>36635225</pubmed><doi>10.1002/cjp2.308</doi></cross_references></HashMap>