Authors
Ajeeva Ithayakumar, Eric Guiheneuf
Published in
Annales de biologie clinique. Volume 84. Issue 5. Pages 0. Oct 31, 2026. Epub Oct 31, 2026.
Abstract
Blast morphology remains a key step in the initial diagnosis of acute myeloid leukemia (AML). Several morphological abnormalities have been associated with specific genetic alterations, but their frequency and predictive value remain incompletely characterized. This retrospective single-center study included 102 patients with de novo AML (excluding acute promyelocytic leukemia) diagnosed at Amiens University Hospital between 2019 and 2024. Bone marrow smears were reviewed to identify blast morphological abnormalities and their associations with cytogenetic and molecular alterations. An additional cohort of patients with the t(8;21) translocation (n = 11) was analyzed to further investigate pseudo-Chediak-Higashi inclusions. At least one morphological abnormality was observed in 67.6% of patients. Cup-like nuclei (6.9%) were exclusively associated with NPM1 mutations (100%; p < 0.001). Convoluted nuclei (40.2%) were associated with monocytic AML (M4/M5) and with NPM1 mutations and the CBFβ::MYH11 fusion transcript. Pseudo-Chediak-Higashi inclusions (19.6%) were significantly associated with the RUNX1::RUNX1T1 transcript in the main cohort (sensitivity 80%; specificity 83.5%; PPV 20.0%; p = 0.005). Cytoplasmic vacuoles (8.8%) were significantly associated with monocytic AML M5 (p = 0.017). Blast morphology remains a useful tool for the early diagnostic orientation of AML. The presence of pseudo-Chediak-Higashi inclusions may suggest the RUNX1::RUNX1T1 fusion, while cup-like nuclei strongly indicate the presence of an NPM1 mutation during the initial examination of the bone marrow smear.
PMID:
42963915
Bibliographic data and abstract were imported from PubMed on 31 Oct 2026.
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