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Updated: May 27, 2025

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
The expression level of EVI1 and clinical features help to distinguish prognostic heterogeneity in the AML entity
Xiao-Hang Ma1, Meng-Ge Gao1, Rong-Qi Cheng1
1Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Cell and Gene Therapy for Hematologic Malignancies, Peking University, Beijing, China.
Abstract:
Acute myeloid leukemia (AML) with 3q26 rearrangements results in a poor prognosis and typically causes ecotropic viral integration site1 (EVI1) overexpression (EVI1oe); however, many AML patients with EVI1oe have undetected 3q26 rearrangements. The aim of this study was to restratify AML patients with EVI1oe. We retrospectively reviewed the diagnostic outcomes of 1327 patients tested at our institute from November 2015 to December 2022. A total of 468 de novo AML patients were included, with 191 classified as EVI1oe. Eighteen AML patients with EVI1oe had detectable 3q26 rearrangements and had significantly greater EVI1 expression levels than those without rearrangements. A new cutoff value for EVI1oe in AML patients of 122 % was determined using the ROC curve based on overall survival (OS) and effectively distinguished the prognosis of EVI1oe AML patients without detectable 3q26 rearrangements (p = 0.0051 and 0.0039, respectively). Using this cutoff value, ELN stratification, transplantation status, response to induction therapy, and bone marrow blast percentage, we constructed a nomogram model (C-index = 0.808). This model was used to stratify patients into two risk subgroups, with the low-risk subgroup showing better OS than the high-risk subgroup did (p < 0.001 in the training cohort; p = 0.002 in the validation cohort). In conclusion, AML patients with EVI1oe have heterogeneous prognoses. The use of EVI1 expression levels in combination with other risk factors may enable accurate prognostic stratification of AML patients with EVI1oe.
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