{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T16:14:37Z","timestamp":1785428077466,"version":"3.56.0"},"reference-count":49,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T00:00:00Z","timestamp":1778889600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Saventic Health"},{"DOI":"10.13039\/501100004421","name":"Warsaw University of Technology","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004421","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/00y0xnp53","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background and Objectives: Primary myelofibrosis (PMF) is a rare hematologic malignancy with non-specific symptoms, causing diagnostic delays and missed diagnoses. Automated screening in heterogeneous electronic health records (EHRs) is challenging due to class imbalance, data sparsity, and incomplete labeling. We investigated two complementary objectives: (1) developing a screening algorithm using routine EHR data to identify PMF-risk patients for hematology consultation, and (2) assessing the applicability of positive-unlabeled (PU) learning. Methods: Using EHR data from 10 Polish hospitals, we evaluated several ensemble models and found that LightGBM achieved the best performance. Results: LightGBM achieved AP 20.83% (95% CI: 19.18\u201324.35%), sensitivity 45.52% (95% CI: 39.48\u201352.72%), and precision 14.72% (95% CI: 13.80\u201317.01%)\u2014substantially exceeding expected prevalence (over 340-fold enrichment). The model captured interactions among RDW and PLT parameters revealing high-risk unlabeled patients with confirmed diagnoses (n = 5) or clinical profiles resembling PMF cases (n = 31), confirming PU problem. Conclusions: Although PU methods enhanced sensitivity, they reduced precision to levels exceeding real-world healthcare capacity. Ensemble learning enables disease identification in clinical settings.<\/jats:p>","DOI":"10.3390\/cancers18101618","type":"journal-article","created":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T08:56:27Z","timestamp":1779094587000},"page":"1618","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Leveraging Ensemble Machine Learning Models for the Detection of Primary Myelofibrosis in Electronic Health Records"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0815-5691","authenticated-orcid":false,"given":"Arkadiusz","family":"Sycz","sequence":"first","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"Faculty of Mathematics and Information Science, Warsaw University of Technology, St. Koszykowa 75, 00-662 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1269-6722","authenticated-orcid":false,"given":"Michal J.","family":"Dabrowski","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"Computational Biology Group, Institute of Computer Science of the Polish Academy of Sciences, 01-248 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2322-9295","authenticated-orcid":false,"given":"Kinga","family":"Marciniak","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"The HCP Hospital in Poznan, St. 28 Czerwca 1956 r. 194, 61-485 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5369-5395","authenticated-orcid":false,"given":"Aleksandra","family":"Jurczuk","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"Department of Clinical Immunology, Medical University of Bialystok, 15-274 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Meryn","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"Sk\u00e5ne University Hospital, 214 28 Malm\u00f6, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"Konopelko","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5197-0785","authenticated-orcid":false,"given":"Marek","family":"Dudzi\u0144ski","sequence":"additional","affiliation":[{"name":"Saventic Health, Polna 66\/12 Street, 87-100 Torun, Poland"},{"name":"Department of Hematology, F. Chopin University Clinical Hospital in Rzesz\u00f3w, 35-055 Rzeszow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8550-8908","authenticated-orcid":false,"given":"Miros\u0142aw","family":"Markiewicz","sequence":"additional","affiliation":[{"name":"Department of Hematology, F. Chopin University Clinical Hospital in Rzesz\u00f3w, 35-055 Rzeszow, Poland"},{"name":"Department of Hematology, Faculty of Medicine, Collegium Medicum, University of Rzesz\u00f3w, 35-959 Rzeszow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4721-0916","authenticated-orcid":false,"given":"Wojciech","family":"Homenda","sequence":"additional","affiliation":[{"name":"Regional Hospital of Slupsk and Institute of Health Sciences, Pomeranian University of Slupsk, 76-200 Slupsk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Sobas","sequence":"additional","affiliation":[{"name":"Department of Hematology, Jan Biziel University Hospital No. 2, 85-163 Bydgoszcz, Poland"},{"name":"Department of Hematology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toru\u0144, 85-067 Bydgoszcz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz","family":"Szukalski","sequence":"additional","affiliation":[{"name":"Department of Hematology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toru\u0144, 85-067 Bydgoszcz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Kaczorowska-Bilska","sequence":"additional","affiliation":[{"name":"Department of Hematology, Jan Biziel University Hospital No. 2, 85-163 Bydgoszcz, Poland"},{"name":"Department of Hematology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toru\u0144, 85-067 Bydgoszcz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6617-0852","authenticated-orcid":false,"given":"Agnieszka","family":"Gala-B\u0142\u0105dzi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Dialysis Unit, University Clinical Hospital, Fryderyka Chopina 2, 35-055 Rzeszow, Poland"},{"name":"Department of Nephrology and Endocrinology, Faculty of Medicine, University of Rzesz\u00f3w, 35-959 Rzeszow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szymon","family":"Fornagiel","sequence":"additional","affiliation":[{"name":"J\u0119drzej \u015aniadecki Specialist Hospital, 33-300 Nowy Sacz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaros\u0142aw","family":"Piszcz","sequence":"additional","affiliation":[{"name":"Department of Haematology, Internal Medicine and Angiology with Haematopoietic Cell Transplantation Unit, Medical University of Bia\u0142ystok, 15-276 Bialystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"Helbig","sequence":"additional","affiliation":[{"name":"Department of Hematology and Bone Marrow Transplantation, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patryk","family":"W\u0119glarz","sequence":"additional","affiliation":[{"name":"Department of Hematology and Bone Marrow Transplantation, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylwia","family":"Kot","sequence":"additional","affiliation":[{"name":"Department of Hematology, F. Chopin University Clinical Hospital in Rzesz\u00f3w, 35-055 Rzeszow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6219-6422","authenticated-orcid":false,"given":"Pawe\u0142","family":"Turczyn","sequence":"additional","affiliation":[{"name":"National Institute of Geriatrics, Rheumatology and Rehabilitation, Clinic of Early Arthritis, 02-637 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9622-1830","authenticated-orcid":false,"given":"Brygida","family":"Kwiatkowska","sequence":"additional","affiliation":[{"name":"National Institute of Geriatrics, Rheumatology and Rehabilitation, Clinic of Early Arthritis, 02-637 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Rymko","sequence":"additional","affiliation":[{"name":"Department of Hematology, L. 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