{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T15:41:25Z","timestamp":1785426085777,"version":"3.56.0"},"reference-count":44,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Children\u2019s Foundation, Development of AML Cell lines with Acquired Resistance to Standard Therapies","award":["R1-2021-41"],"award-info":[{"award-number":["R1-2021-41"]}]},{"award":["R1-2021-41"],"award-info":[{"award-number":["R1-2021-41"]}],"id":[{"id":"https:\/\/ror.org\/03exer738","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Acute erythroid leukemia (AEL) or AML-M6 predominantly affects older adults and is rare in childhood. Compared with other AML subtypes, AEL remains relatively understudied because of its rarity. We established LS-CHM, a novel AEL cell line derived from the ascitic fluid of a patient with congenital leukemia. Interestingly, leukemic cells persisted in the ascitic fluid even after successful eradication from the bone marrow and extramedullary sites. Method: Leukemia cells from the ascites fluid exhibited robust proliferation in culture independent of cytokine requirement and were further characterized by flow cytometric immunophenotyping, cytogenetics, cell cycle and doubling time analysis, colony formation, genome and RNA sequencing, myeloid gene next generation sequencing, and cytotoxicity analysis. Results: LS-CHM displayed CD36, partial CD235a, CD31, CD43, and CD71 expression and demonstrated in vitro robust growth and high sensitivity to chemotherapeutic agents. A PDX mouse model showed development of leukemia. Genomic analysis revealed a frameshift BCOR mutation in the absence of additional mutations and downregulated TP53 expression with an exonic non-deleterious mutation. RNA sequencing of LS-CHM cells revealed upregulation of two cohesin complex genes, RAD21 and SMC3, whose high levels are associated with hematopoietic stem cell differentiation into erythroid lineage. Conclusions: LS-CHM represents the first congenital AEL-derived cell line, in contrast to the predominantly adult-origin and often secondary erythroid leukemia cell lines available currently. Thus, LS-CHM provides a unique pediatric and extramedullary AEL model, expanding the existing spectrum of AEL cell lines and offering valuable opportunities for biologic and therapeutic investigations.<\/jats:p>","DOI":"10.3390\/cancers18091396","type":"journal-article","created":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:55:39Z","timestamp":1777370139000},"page":"1396","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Development and Characterization of a Novel Congenital Acute Erythroid Leukemia Cell Line with Unique Features"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7470-486X","authenticated-orcid":false,"given":"Prasiksha","family":"Sitaula","sequence":"first","affiliation":[{"name":"Division of Hematology\/Oncology, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8366-9487","authenticated-orcid":false,"given":"Manisha","family":"Gadgeel","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Flow Cytometry Laboratory, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Edwards","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Polin","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juiwanna","family":"Kushner","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sijana H.","family":"Dzinic","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"White","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8748-716X","authenticated-orcid":false,"given":"Yubin","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Molecular Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2228-3235","authenticated-orcid":false,"given":"Jeffrey W.","family":"Taub","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"},{"name":"School of Medicine, Wayne State University, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3784-072X","authenticated-orcid":false,"given":"Katherine","family":"Gurdziel","sequence":"additional","affiliation":[{"name":"Genome Sciences Core, Department of Pharmacology and IEHS, Wayne State University, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6819-0045","authenticated-orcid":false,"given":"Hunter","family":"Dlugas","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Biostatistics & Bioinformatics Core, Barbara Ann Karmanos Cancer Institute, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9783-8464","authenticated-orcid":false,"given":"Greg","family":"Dyson","sequence":"additional","affiliation":[{"name":"Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA"},{"name":"Biostatistics & Bioinformatics Core, Barbara Ann Karmanos Cancer Institute, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rozzelle","family":"Arlene","sequence":"additional","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2559-8902","authenticated-orcid":false,"given":"David","family":"Carr","sequence":"additional","affiliation":[{"name":"Department of Pathology, Detroit Medical Center, Wayne State University, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Moussa","sequence":"additional","affiliation":[{"name":"Department of Pathology, Detroit Medical Center, Wayne State University, Detroit, MI 48201, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7138-3027","authenticated-orcid":false,"given":"S\u00fcreyya","family":"Sava\u015fan","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"},{"name":"Division of Hematology\/Oncology, Flow Cytometry Laboratory, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"},{"name":"School of Medicine, Wayne State University, Detroit, MI 48201, USA"},{"name":"Pediatric Blood and Marrow Transplantation Program, Division of Hematology\/Oncology, Barbara Ann Karmanos Cancer Center, Children\u2019s Hospital of Michigan, Detroit, MI 48201, USA"},{"name":"Department of Pediatrics, Central Michigan University College of Medicine, Mt Clemons, MI 48859, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1046\/j.1365-2141.2003.04181.x","article-title":"Di Guglielmo and his syndromes","volume":"120","author":"Bain","year":"2003","journal-title":"Br. 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