Molecular characterization of pediatric acute myeloid leukemia with t(8;21)

A. V. Panfyorova; Панферова А.В.; M. V. Gaskova; Гаськова М.В.; E. A. Zerkalenkova; Зеркаленкова Е.А.; E. V. Aprelova; Апрелова Е.В.; A. N. Kazakova; Казакова А.Н.; N. M. Timofeeva; Тимофеева Н.М.; O. I. Soldatkina; Солдаткина О.И.; E. N. Nikitin; Никитин Е.Н.; Y. Y. Chekmeneva; Чекменева Ю.Ю.; I. I. Kalinina; Калинина И.И.; S. A. Plyasunova; Плясунова С.А.; Y. V. Olshanskaya; Ольшанская Ю.В.; G. A. Novichkova; Новичкова Г.А.; M. A. Maschan; Масчан М.А.; A. A. Maschan; Масчан А.А.

doi:10.24287/1726-1708-2018-17-1-9-15

Molecular characterization of pediatric acute myeloid leukemia with t(8;21)

Authors: Panfyorova A.V.¹, Gaskova M.V.¹, Zerkalenkova E.A.¹, Aprelova E.V.¹, Kazakova A.N.¹, Timofeeva N.M.¹, Soldatkina O.I.¹, Nikitin E.N.¹, Chekmeneva Y.Y.¹, Kalinina I.I.¹, Plyasunova S.A.¹, Olshanskaya Y.V.¹, Novichkova G.A.¹, Maschan M.A.¹, Maschan A.A.¹
Affiliations:
1. Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
Issue: Vol 17, No 1 (2018)
Pages: 9-15
Section: Статьи
Submitted: 09.08.2018
Published: 09.02.2018
URL: https://hemoncim.com/jour/article/view/21
DOI: https://doi.org/10.24287/1726-1708-2018-17-1-9-15
ID: 21

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Abstract

Acute myeloid leukemia (AML) with t(8;21) or inv(16) have been considered as unique group within AML and are usually reported as core binding factor AML (CBF-AML) but there is significant clinical and biological heterogeneity within and relapse incidence reaches up to 40%. It is known that, translocations involving CBFs are not sufficient to induce fulminant leukemia alone, therefore is considered as a model for the multistep pathogenesis of AML. To characterize more broad spectrum of genetic changes we performed extensive mutational analysis of 54 genes by high-throughput sequencing in 30 patients with t(8;21)-AML. The molecular landscape of pediatric AML with t(8;21) was highly heterogeneous and harbored frequent mutations in genes activating tyrosine kinase signaling (including KIT, N/KRAS, and FLT3) – 60% in group with variable mutant allele ratios. Mutations in genes that regulate chromatin conformation or encode members of the cohesin complex were observed with high frequencies – 43% as well. These data support the theory of synergic cooperation between these events and suggest that diverse cooperating mutations may influence CBF-AML pathophysiology as well as clinical behavior and point to potential unique pathogenesis of t(8;21). The adoption of advances in DNA sequencing as a high-throughput sequencing technology is a useful tool in diagnostics of pediatric AML.

Keywords

AML, t(8, 21), high-throughput sequencing

About the authors

A. V. Panfyorova

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology

Author for correspondence.
Email: a.panfyorova@gmail.com
ORCID iD: 0000-0002-8580-3499

PhD, senior researcher

Russia 117997, Moscow, Samory Mashela st., 1
+7 (909) 670-0045

Russian Federation

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