{"doi":"10.1159/000528046","title":"False-Negative Testing for FIP1L1::PDGFRA by Fluorescence in situ Hybridization Is a Frequent Cause of Diagnostic Delay","abstract":"The imatinib-sensitive fusion gene FIP1L1::PDGFRA is the most frequent molecular abnormality identified in patients with eosinophilic myeloid neoplasms. Rapid recognition of this mutation is essential given the poor prognosis of PDGFRA-associated myeloid neoplasms prior to the availability of imatinib therapy. We report a case of a patient in whom delayed diagnosis resulted in cardiac transplantation for eosinophilic endomyocardial fibrosis. The delay in diagnosis was due, in part, to a false-negative result in fluorescence in situ hybridization (FISH) testing for FIP1L1::PDGFRA. To explore this further, we examined our cohort of patients presenting with confirmed or suspected eosinophilic myeloid neoplasms and found 8 additional patients with negative FISH results despite a positive reverse-transcriptase polymerase chain reaction test for FIP1L1::PDGFRA. More importantly, false-negative FISH results delayed the median time to imatinib treatment by 257 days. These data emphasize the importance of empiric imatinib therapy in patients with clinical features suggestive of PDGFRA-associated disease.","journal":"Acta Haematologica","year":2023,"id":382003,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9581,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":483963,"name":"Alexis Berry","orcid":null,"position":1,"is_corresponding":false},{"id":323514,"name":"Lauren Wetzler","orcid":"0000-0002-1518-2391","position":2,"is_corresponding":false},{"id":445197,"name":"Xiaoping Sun","orcid":"0000-0002-7766-9306","position":3,"is_corresponding":false},{"id":365523,"name":"Lauren Thumm","orcid":null,"position":4,"is_corresponding":false},{"id":1148629,"name":"Pryscilla Yoon","orcid":null,"position":5,"is_corresponding":false},{"id":233263,"name":"Fei Li Kuang","orcid":"0000-0001-9570-3806","position":6,"is_corresponding":false},{"id":368830,"name":"Michelle Makiya","orcid":"0000-0002-5673-3815","position":7,"is_corresponding":false},{"id":539216,"name":"Gregory Constantine","orcid":"0000-0001-5379-9475","position":8,"is_corresponding":false},{"id":237528,"name":"Paneez Khoury","orcid":"0000-0003-1800-0079","position":9,"is_corresponding":false},{"id":267579,"name":"Esther Rheinbay","orcid":"0000-0002-5566-6729","position":10,"is_corresponding":false},{"id":75579,"name":"Andrew A. Lane","orcid":"0000-0001-7380-0226","position":11,"is_corresponding":false},{"id":280055,"name":"Irina Marić","orcid":null,"position":12,"is_corresponding":false},{"id":237529,"name":"Amy D. Klion","orcid":"0000-0002-4986-5326","position":13,"is_corresponding":false},{"id":883262,"name":"Thanai Pongdee","orcid":"0000-0002-4725-242X","position":0,"is_corresponding":true}],"reference_count":16,"raw_metadata":null,"created_at":"2026-07-19T01:17:17.113710Z","pmid":"37285821","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}