{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T22:42:59Z","timestamp":1768603379905,"version":"3.49.0"},"reference-count":52,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T00:00:00Z","timestamp":1768521600000},"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: KMT2A partial tandem duplication (PTD) occurs in approximately 5\u201310% of acute myeloid leukemia (AML) cases and is associated with poor prognosis. While its cytogenetic and molecular features are well described, the immunophenotypic characteristics of AML with KMT2A-PTD remain incompletely defined. Methods: We identified 47 cases of AML with KMT2A-PTD by optical genome mapping. All cases underwent flow cytometric immunophenotypic analysis and next-generation sequencing using an 81-gene panel. Results: The cohort included 32 men and 15 women with a median age of 67 years (range, 19\u201387). Thirty-eight cases were de novo AML, and nine were secondary to myelodysplastic syndrome and\/or myeloproliferative neoplasm. Most cases (93%) demonstrated a normal or non-complex karyotype. The most frequent mutations involved FLT3-ITD (47%), DNMT3A (43%), and RUNX1 (23%). Thirty-one cases (66%) were granulocytic, while 16 (34%) showed granulocytic and\/or monocytic differentiation. Blasts uniformly expressed HLA-DR and frequently expressed CD117 (91%) and CD34 (79%). Increased expression of CD123 (74%) and CD117 (43%) and decreased expression of HLA-DR (74%) and CD38 (69%) were common. Aberrant CD25 expression was observed in 51% of cases. Increased CD123 and aberrant CD25 expression were significantly associated with FLT3-ITD mutations (both p &lt; 0.0001) but not with other recurrent mutations. There was no correlation between FLT3-ITD mutation and expression levels of CD117, CD38 or HLA-DR (all p &gt; 0.05). Conclusions: AML with KMT2A-PTD shows distinctive immunophenotypic features with increased CD123 and aberrant CD25 expression, both associated with FLT3-ITD. These markers may have diagnostic and therapeutic relevance in this AML subtype.<\/jats:p>","DOI":"10.3390\/cancers18020282","type":"journal-article","created":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T11:39:37Z","timestamp":1768563577000},"page":"282","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia with KMT2A Partial Tandem Duplication and Are Associated with FLT3 Internal Tandem Duplication"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0141-9682","authenticated-orcid":false,"given":"Qing","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9482-4806","authenticated-orcid":false,"given":"Guilin","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaoying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa A.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8980-3202","authenticated-orcid":false,"given":"Sanam","family":"Loghavi","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei J.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-8006","authenticated-orcid":false,"given":"L. Jeffrey","family":"Medeiros","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/gcc.10219","article-title":"Comparative analysis of MLL partial tandem duplication and FLT3 internal tandem duplication mutations in 956 adult patients with acute myeloid leukemia","volume":"37","author":"Steudel","year":"2003","journal-title":"Genes, Chromosom. 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