Application of flow cytometry for prediction of translocation t(12;21)(p13;q22)/ETV6-RUNX1 detection in chilhood B-cell precursor acute lymphoblastic leukemia

G.A. Tsaur ¹,², ³, Zh.V. Permikin¹,³, A.M. Popov⁴, T.Yu. Verzhbitskaya¹,²,

T.O. Riger¹,², Anna S. Demina¹,², E.S. Nokhrina¹, O.R. Arakaev¹,²,

L.I. Saveliev¹,², L.G. Fechina¹,²

 

¹ Regional Children’s Hospital, Yekaterinburg, Russian Federation;

² Research Institute of Medical Cell Technologies, Yekaterinburg, Russian Federation;

³ Ural State Medical University, Yekaterinburg, Russian Federation;

⁴ Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation

 

Abstract. Aim. The objective of the study was searching for surface antigen expression that could predict presence of translocation t(12;21)(p13;q22)/ ETV6-RUNX1 in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. Results. ETV6-RUNX1 fusion gene transcript was revealed in 72 (21.1%) out of 341 children with BCP-ALL. Leukemic blast cells in ETV6-RUNX1 — positive patients more frequently had high CD10 expression, myeloid markers co-expression, including CD13, CD33, CD117, and absence of CD20 than in ETV6-RUNX1 — negative ones. Nevertheless diagnostic test performance characteristics of each single parameter was not strong enough for predicting the presence of translocation t(12;21)(p13;q22)/ETV6-RUNX1. On the second step of analysis we used various combinations of the above mentioned markers. The highest diagnostic test performance parameters were obtained in case of combination of high CD117 and heterogeneous CD34 expressions. Specificity of this combination was 0.996 (95% CI 0.989-1.000), positive predictive value 0.947 (95% CI 0.847- 1.000), positive likelihood ratio 67.250 (95% CI 9.130-495.348), while negative likelihood ratio was 0.752 (95% CI 0.659-0.860). Conclusion. Thus, combination of CD34 heterogeneous expression and CD117 expression is highly specific for translocation t(12;21)(p13;q22)/ ETV6-RUNX1. However this combination had limited applicability, because it revealed in 25.0% percent of patients only.

 

Keywords: Acute lymphoblastic leukemia, children, flow cytometry, translocation t(12;21)(p13;q22), fusion gene ETV6-RUNX1

 

There is no conflict of interest.

Contact details of the corresponding author:

Grigory A. Tsaur

tsaur@mail.ru

Received 26.11.2020

For citation:

Tsaur G.A., Permikin Zh.V., Popov A.M., Verzhbitskaya T.Yu., Riger T.O., Demina A.S., Nokhrina E.S., Arakaev O.R., Saveliev L.I., Fechina L.G. Application of flow cytometry for prediction of translocation t(12;21)(p13;q22)/ETV6-RUNX1 detection in chilhood B-cell precursor acute lymphoblastic leukemia. Url: http://vestnikural.ru/article/1140. [Online] Vestn. Ural. Med. Akad. Nauki. = Journal of Ural Medical Academic Science. 2020, Vol. 17, no. 3, pp. 210–220. DOI: 10.22138/2500-0918-2020-17-3-210-220 (In Russ)

 

 

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Authors

Grigory A. Tsaur

Regional Children’s Hospital

Doctor of Medical Science, Director of Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Leading Researcher at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

Ural State Medical University

Associate Professor at the Department of Laboratory Diagnostics and Bacteriology

3, Repina St., Yekaterinburg 620030, Russian Federation

TsaurGA@mis66.ru

 

Zhan V. Permikin

Regional Children’s Hospital

Trainee doctor at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

 

Ural State Medical University

Resident at the Department of Laboratory Diagnostics and Bacteriology

3, Repina St., Yekaterinburg 620030, Russian Federation

permikin.z@yandex.com

 

Alexander M. Popov

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

PhD, Director of Cellular Immunololgy and Immunogenesis Laboratory

1, Samory Mashela St., Moscow 117997, Russian Federation

uralcytometry@gmail.com

 

Tatyana Yu. Verzhbitskaya

Regional Children’s Hospital

PhD, Doctor of Laboratory Medicine at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Leading Researcher at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

VerzhbitskayaTY@mis66.ru

 

Tatyana O. Riger

Regional Children’s Hospital

Doctor of Laboratory Medicine at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Junior Researcher at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

RigerTO@mis66.ru

 

Anna S. Demina

Regional Children’s Hospital

Biologist at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Ytkaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Biologist at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

DeminaAS@mis66.ru

 

Ekaterina S. Nokhrina

PhD

Regional Children’s Hospital

Biologist at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

NokhrinaES@mis66.ru

 

Oleg R. Arakaev

Regional Children’s Hospital

Head of Pediatric Oncology Ward #2

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Senior Researcher at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

ArakaevOR@mis66.ru

 

Leonid I. Saveliev

Regional Children’s Hospital

PhD, Doctor of Laboratory Medicine at the Molecular Biology, Immunophenotyping and Pathology Laboratory

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Director of the Laboratory of Cellular Therapy of Oncohematological Disorders, Leading Researcher

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

Ural State Medical University

Associate Professor at the Department of Laboratory Diagnostics and Bacteriology

3, Repina St., Yekaterinburg 620030, Russian Federation

Sav7000@yandex.ru

 

Larisa G. Fechina

Regional Children’s Hospital

PhD, Deputy of Head Physician for Oncology and Hematology

32, Serafimy Deryabinoy Street., Yekaterinburg 620149, Russian Federation

Research Institute of Medical Cell Technologies

Leading Researcher at the Laboratory of Cellular Therapy of Oncohematological Disorders

22a, Karla Marksa St., Yekaterinburg 620026, Russian Federation

TokarevaAN@mis66.ru

 

 
 
 

Authorization