{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T15:04:57Z","timestamp":1779375897460,"version":"3.53.1"},"reference-count":34,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Lymphocyte-activation gene 3 (LAG3) and cytotoxic T-lymphocyte-associated protein 4 (CTLA4) are immune checkpoint receptors and inhibitory regulators of T-cells. Methods: Here, we analyzed the prevalence and potential impact of the LAG3 gene variant rs870849 and the CTLA4 gene variant rs231775 in AML patients eligible for autologous stem cell transplantation. Results: While CTLA4 rs231775 was prevalent at reduced minor allele frequencies (MAF 0.33), LAG3 rs870849 was prevalent at elevated minor allele frequencies (MAF 0.58) in AML patients, compared to the allele frequencies in the European population (MAF 0.37 and MAF 0.39). The gene risk analysis indicated a dose-dependent risk of AML disease associated with LAG3 rs870849, but no risk associated with CTLA4 rs231775. Baseline blood count profiles differed across LAG3 genotypes, suggesting a link between LAG3 rs870849 and disease-associated levels of anemia, thrombocytopenia and peripheral blast percentage. Conslusions: The germline LAG3 variant rs870849 may be associated with AML disease risk and specific hematological disease features.<\/jats:p>","DOI":"10.3390\/cancers18101671","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T13:53:24Z","timestamp":1779371604000},"page":"1671","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Elevated Allele Frequency of a Common Germline LAG3 Variant Associated with Anemia, Thrombocytopenia and Peripheral Blast Percentage in Acute Myeloid Leukemia"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-1573","authenticated-orcid":false,"given":"Katja","family":"Seipel","sequence":"first","affiliation":[{"name":"Department of Medical Oncology, Inselspital, University Hospital Bern, University of Bern, 3010 Bern, Switzerland"},{"name":"Department for Biomedical Research, University of Bern, 3008 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Shaforostova","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Inselspital, University Hospital Bern, University of Bern, 3010 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Tarozzi","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Inselspital, University Hospital Bern, University of Bern, 3010 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Noelle","family":"Kronig","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Inselspital, University Hospital Bern, University of Bern, 3010 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8771-947X","authenticated-orcid":false,"given":"Ulrike","family":"Bacher","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital Bern, 3010 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6055-5257","authenticated-orcid":false,"given":"Thomas","family":"Pabst","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Inselspital, University Hospital Bern, University of Bern, 3010 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,21]]},"reference":[{"key":"ref_1","first-page":"1487","article-title":"Multiplex Immunohistochemistry Elucidates Increased Distance between Cytotoxic T Cells and Plasma Cells in Relapsed Myeloma, and Identifies Lag-3 as the Most Common Checkpoint Receptor on Cytotoxic T Cells of Myeloma Patients","volume":"109","author":"Ninkovic","year":"2024","journal-title":"Haematologica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3611","DOI":"10.1038\/s41388-020-1239-y","article-title":"Alterations of T Cell Mediated Immunity in Acute Myeloid Leukemia","volume":"39","author":"Li","year":"2020","journal-title":"Oncogene"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"5825","DOI":"10.1038\/s41467-023-41562-6","article-title":"Large T Cell Clones Expressing Immune Checkpoints Increase during Multiple Myeloma Evolution and Predict Treatment Resistance","volume":"14","author":"Botta","year":"2023","journal-title":"Nat. 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