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- Title
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
- Authors
Guijarro, Francesca; Castaño-Díez, Sandra; Jiménez-Vicente, Carlos; Garrote, Marta; Álamo, José Ramón; Gómez-Hernando, Marta; López-Oreja, Irene; Morata, Jordi; López-Guerra, Mònica; López, Cristina; Beà, Sílvia; Costa, Dolors; Colomer, Dolors; Díaz-Beyá, Marina; Rozman, Maria; Esteve, Jordi
- Abstract
Two new diagnostic classifications of acute myeloid leukemia (AML) were published in 2022 to update current knowledge on disease biology. In previous 2017-edition categories of AML with myelodysplasia-related changes, AML was not otherwise specified, but AML with mutated RUNX1 experienced profound changes. We performed whole exome sequencing on a cohort of 69 patients with cytogenetic intermediate-risk AML that belonged to these diagnostic categories to correlate their mutational pattern and copy-number alterations with their new diagnostic distribution. Our results show that 45% of patients changed their diagnostic category, being AML myelodysplasia-related the most enlarged, mainly due to a high frequency of myelodysplasia-related mutations (58% of patients). These showed a good correlation with multilineage dysplasia and/or myelodysplastic syndrome history, but at the same time, 21% of de novo patients without dysplasia also presented them. RUNX1 was the most frequently mutated gene, with a high co-occurrence rate with other myelodysplasia-related mutations. We found a high prevalence of copy-neutral loss of heterozygosity, frequently inducing a homozygous state in particular mutated genes. Mild differences in current classifications explain the diagnostic disparity in 10% of patients, claiming a forthcoming unified classification.
- Subjects
ACUTE myeloid leukemia; MYELODYSPLASTIC syndromes; CYTOGENETICS; HETEROZYGOSITY; DYSPLASIA; BIOLOGY
- Publication
International Journal of Molecular Sciences, 2024, Vol 25, Issue 16, p8669
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms25168669