Searching for germline mutations in the RUNX1 gene among Polish patients with acute myeloid leukemia

Abstract

The aim of the study was the identification of constitutional RUNX1 mutations among AML patients. The study group included 100 patients of Polish origin, diagnosed with de novo AML. 14 out of 100 AML patients had together 17 RUNX1 mutations, three of which were found to be germline changes. The difference in germline mutation frequency between study and control groups was not statistically significant (p = 0.193), but the odds ratio was 7.215. In all patients with germline mutations, chromosome 7 aberrations were found. The difference in the frequency of chromosome 7 aberrations between the group of patients with and without germline mutations was statistically significant (p = 0.008, OR = 73.00). We showed a higher frequency of germline mutations of RUNX1 in AML patients than in the control group, which confirms the role of these mutations in the development of AML, and an association of germline mutations with aberrations of chromosome 7.

Keywords:

• Acute myeloid leukemia
• AML
• RUNX1
• germline mutations

Acknowledgments

The authors would like to thank all patients for participating in the study.

Research consent

Informed consent was obtained from all patients for being included in the study.

Author contributions

Contribution Aneta Bąk – molecular investigation, author of the manuscript Katarzyna Skonieczka – cytogenetic investigation Anna Jaśkowiec – cytogenetic investigation Anna Junkiert-Czarnecka – molecular investigation Marta Heise – molecular investigation Maria Pilarska-Deltow – molecular investigation Stanisław Potoczek – clinical evaluation of patients, samples collection Maria Czyżewska – clinical evaluation of patients, samples collection Olga Haus – clinical evaluation of patients, supervision of the research and manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by the Nicolaus Copernicus University under Grants number [WL-129 and MN-SDL-2/WL/2018].