{"doi":"10.1007/s00277-012-1423-4","title":"Monoallelic CEBPA mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients","abstract":null,"journal":"Annals of Hematology","year":2012,"id":610775,"datarank":0.5333022092234121,"base_score":3.5553480614894135,"endowment":3.5553480614894135,"self_citation_contribution":0.5333022092234121,"citation_network_contribution":0.0,"self_endowment_contribution":0.5333022092234121,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":34,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1037564,"name":"Annika Dufour","orcid":null,"position":1,"is_corresponding":false},{"id":1570481,"name":"Friederike Schneider","orcid":null,"position":2,"is_corresponding":false},{"id":1472824,"name":"Eva Hoster","orcid":"0000-0002-0749-1389","position":3,"is_corresponding":false},{"id":1570482,"name":"Tobias Benthaus","orcid":null,"position":4,"is_corresponding":false},{"id":1570483,"name":"Bianka Ksienzyk","orcid":null,"position":5,"is_corresponding":false},{"id":1037565,"name":"Stephanie Schneider","orcid":null,"position":6,"is_corresponding":false},{"id":929332,"name":"Purvi M. Kakadia","orcid":null,"position":7,"is_corresponding":false},{"id":1570484,"name":"Maria-Cristina Sauerland","orcid":null,"position":8,"is_corresponding":false},{"id":32736,"name":"Wolfgang E. Berdel","orcid":"0000-0002-3030-6567","position":9,"is_corresponding":false},{"id":1570485,"name":"Thomas Büchner","orcid":null,"position":10,"is_corresponding":false},{"id":680979,"name":"Bernhard Wörmann","orcid":null,"position":11,"is_corresponding":false},{"id":1037074,"name":"Jan Braess","orcid":"0000-0001-6528-2078","position":12,"is_corresponding":false},{"id":616831,"name":"Marion Subklewe","orcid":null,"position":13,"is_corresponding":false},{"id":1547115,"name":"Wolfgang Hiddemann","orcid":null,"position":14,"is_corresponding":false},{"id":733931,"name":"Stefan K. Bohlander","orcid":"0000-0002-2202-9088","position":15,"is_corresponding":false},{"id":1037075,"name":"Karsten Spiekermann","orcid":"0000-0002-5139-4957","position":16,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Monoallelic CEBPA mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients","abstract":"We and others have shown that cytogenetically normal (CN)-AML patients with biallelic CEBPA gene mutations (biCEBPA) represent a molecularly distinct group with a favorable prognosis. Patients carrying a monoallelic CEBPA mutation (moCEBPA), however, show no different outcome compared to patients with wildtype CEBPA, and these mutations are frequently associated with mutated NPM1 or FLT3-ITD. So far, no molecular or clinical hallmark has been identified to prognostically distinguish moCEBPA patients from patients with wildtype CEBPA. Therefore, we used the data of 663 CN-AML patients treated within the AMLCG 1999 trial to explore the prognostic value of moCEBPA in the context of concomitant clinical and molecular markers (mutated NPM1, FLT3-ITD). Multiple Cox regression in 515 patients adjusting for all available potential confounders revealed that the NPM1 mutation modified the prognostic value of moCEBPA with respect to overall survival (OS, p = 0.017) and event-free survival (EFS, p = 0.011). MoCEBPA was beneficial in NPM1 mutated patients: adjusted OS-hazard ratio (HR) 0.09, 95% confidence interval (CI) 0.01-0.63, p = 0.016; EFS-HR (95% CI) 0.16 (0.04-0.65), p = 0.010. In contrast, moCEBPA had no prognostic impact in patients with wildtype NPM1: OS-HR (95% CI) 1.08 (0.59-1.97), p = 0.804; EFS-HR (95% CI) 1.12 (0.64-1.96), p = 0.682. We found no prognostic effect modification for moCEBPA by FLT3-ITD. The presence of a moCEBPA mutation was shown to be associated with prolonged survival in NPM1 mutated CN-AML patients. Confirmation of these results in larger studies will clarify whether an additional moCEBPA mutation influences the risk stratification of patients with an NPM1 mutated/FLT3-ITD positive genotype.","is_dataset_classified":null,"base_score":3.5553480614894135,"endowment":3.5553480614894135,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"22362118","pmcid":null,"openalex_id":"https://openalex.org/W2120555830","authors":[],"funders":[],"total_grants":0,"fwci":2.9666,"citation_percentile":0.91973456,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":5},{"year":2014,"count":7},{"year":2015,"count":4},{"year":2016,"count":1},{"year":2019,"count":1},{"year":2020,"count":4},{"year":2021,"count":4},{"year":2022,"count":1},{"year":2023,"count":3},{"year":2024,"count":2}],"oa_status":"closed","license":"http://www.springer.com/tdm","oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/s00277-012-1423-4.pdf","host_type":"publisher"},{"url":"http://link.springer.com/article/10.1007/s00277-012-1423-4/fulltext.html","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1007/s00277-012-1423-4","host_type":"publisher"},{"url":"https://doi.org/10.1007/s00277-012-1423-4","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/22362118","host_type":"repository"},{"url":"https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7565","host_type":"repository"}],"fields_of_study":["Acute Myeloid Leukemia Research","Myeloproliferative Neoplasms: Diagnosis and Treatment","Chronic Myeloid Leukemia Treatments","Adolescent","Adult","Aged","Aged, 80 and over","Alleles","CCAAT-Enhancer-Binding Proteins","Epistasis, Genetic","Female","Genetic Predisposition to Disease","Homozygote","Humans","Karyotype","Leukemia, Myeloid, Acute","Male","Middle Aged","Mutation","Nuclear Proteins","Nucleophosmin","Prognosis","Risk Factors","Young Adult"],"mesh_terms":["Nucleophosmin","Adolescent","Adult","Aged","Aged, 80 and over","Alleles","Epistasis, Genetic","Female","Homozygote","Humans","Male","Middle Aged","Mutation","Nuclear Proteins","Prognosis","Risk Factors","Leukemia, Myeloid, Acute","Genetic Predisposition to Disease","CCAAT-Enhancer-Binding Proteins","Young Adult","Karyotype"],"keywords":["CEBPA","NPM1","Internal medicine","Hazard ratio","Oncology","Medicine","Context (archaeology)","Myeloid leukemia","Proportional hazards model","Confidence interval","Mutation","Gastroenterology","Biology","Karyotype","Genetics","Gene"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-01T11:18:59.553346Z","pmid":null,"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":[]}