Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with or Fusions

Overview

Journal Turk J Haematol

Specialty Hematology

Date 2022 Apr 21

PMID 35445594

Authors

Wei Qin

Xiayu Chen

Hong Jie Shen

Zheng Wang

Xiaohui Cai

Naike Jiang

Haiying Hua

Affiliations

Soon will be listed here.

Abstract

Objective: This study was undertaken with the aim of better understanding the genomic landscape of core-binding factor (CBF) acute myeloid leukemia (AML).

Materials And Methods: We retrospectively analyzed 112 genes that were detected using next-generation sequencing in 134 patients with de novo CBF-AML., and mutations were detected by DNA-PCR and Sanger sequencing.

Results: In the whole cohort, the most commonly mutated genes were (33.6%) and (33.6%), followed by (18.7%), (13.4%), (8.2%), and (8.2%). The frequencies of mutated genes associated with epigenetic modification, such as , and , were low, being present in 1.5%, 0.7%, 2.2%, and 7.5% of the total number of patients, respectively. Inv(16)/t(16;16) AML patients exhibited more mutations of and (p=0.001 and 0.0001, respectively) than t(8;21) AML patients. Functionally mutated genes involved in signaling pathways were observed more frequently in the inv(16)/t(16;16) AML group (p=0.016), while the mutations involved in cohesin were found more frequently in the t(8;21) AML group (p=0.011). Significantly higher white blood cell counts were found in inv(16)/t(16;16) AML patients with () or () mutations compared to the corresponding t(8;21) AML/ and t(8;21) AML/ groups (p=0.001 and 0.009, respectively).

Conclusion: The mutation profiles of t(8;21) AML patients showed evident differences from those of patients with inv(16)/t(16;16) AML. We have provided a comprehensive overview of the mutational landscape of CBF-AML.

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