{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T06:50:47Z","timestamp":1773211847127,"version":"3.50.1"},"reference-count":29,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>We present a case of a patient in their 80s initially presenting with myelodysplastic syndromes (MDS). Chromosomal analysis showed an abnormal female karyotype with a complex karyotype. Metaphase FISH confirmed four copies of KMT2A (MLL) in 24.5% [49\/200] and amplification of KMT2A (MLL) with more than four copies in 22% [44\/200]. FISH also revealed the presence of MYC (8q24) on the long arm of chromosome 2 at 2q33 locus, two copies of BCR on each homolog 22, and two additional copies of BCR on a derivative chromosome 22. Flow cytometric analysis revealed a population of aberrant myeloid blasts (15\u201317%). Bone marrow analysis showed hypercellular marrow with a significant increase in myeloid blasts (~50%) and trilineage dysplasia. Eventually, these findings were consistent with a final diagnosis of acute myeloid leukemia non-M3 and a complex karyotype, correlating with cytogenetics, flow cytometry, molecular, and clinical findings. The patient\u2019s clinical course was marked by a rapid deterioration, including recurrent arrhythmias, hypoxic respiratory failure, and septic shock. Given their poor clinical status and adverse-risk molecular profile, care was transported to hospice. The presence of KMT2A amplification is a rare event in AML and is present in ~1% of AML and MDS cases. MYC translocation, KMT2A (MLL) amplification, and 5q\/20q losses suggest secondary therapy-related AML and categorize this case in the adverse risk prognosis under the ELN 2022 guidelines.<\/jats:p>","DOI":"10.3390\/diagnostics16060820","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T08:43:31Z","timestamp":1773132211000},"page":"820","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of De Novo Acute Myeloid Leukemia, Featuring a KMT2A (MLL) Amplification"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6808-2434","authenticated-orcid":false,"given":"Fares","family":"Hassan","sequence":"first","affiliation":[{"name":"The International Circle of Genetics Studies Project, New York Chapter, 25 Pinnacle Dr., New York, NY 11777, USA"},{"name":"Department of Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3642-5008","authenticated-orcid":false,"given":"Jeff","family":"Chen","sequence":"additional","affiliation":[{"name":"The International Circle of Genetics Studies Project, New York Chapter, 25 Pinnacle Dr., New York, NY 11777, USA"},{"name":"Department of Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8908-922X","authenticated-orcid":false,"given":"Charles","family":"Westphal","sequence":"additional","affiliation":[{"name":"The International Circle of Genetics Studies Project, New York Chapter, 25 Pinnacle Dr., New York, NY 11777, USA"},{"name":"Department of Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5339-5347","authenticated-orcid":false,"given":"Carlos A.","family":"Tirado","sequence":"additional","affiliation":[{"name":"The International Circle of Genetics Studies Project, New York Chapter, 25 Pinnacle Dr., New York, NY 11777, USA"},{"name":"Department of Biology, Stony Brook University, Stony Brook, NY 11794, USA"},{"name":"Department of Pathology, Stony Brook University Hospital, Stony Brook, NY 11794, USA"},{"name":"The Cytogenetics Lab, Department of Pathology, Stony Brook University Hospital, Stony Brook, NY 11794, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Chen, J., Hassan, F., and Tirado, C.A. 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