Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development

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Abstract

With the development of modern next generation sequencing based DNA diagnostic methods, it has become possible to study hereditary predisposition to oncohematological diseases. Germline variants (mutations) of RUNX1, CEBPA, GATA2, ANKRD26, DDX41, FANC- (Fanconi anemia), etc. genes, associated with the development of hereditary hematological malignancies, have been identified. Timely diagnosis of such diseases will allow for medical genetic counseling and testing of the patient’s relatives to identify or exclude the risk of developing the disease, select a donor for the patient (it is undesirable to use a mutation carrier relative as a donor), and personalize the choice of chemotherapy regimens (for example, patients with Fanconi anemia may experience increased sensitivity to chemotherapy). The aim of this review is to present a modern view of the genetic predisposition to the development of hematological malignancies.

About the authors

M. V. Makarova

EVOGEN; Russian Scientific Center of Roentgenoradiology, Ministry of Health of Russia

Author for correspondence.
Email: makarova@evogenlab.ru
ORCID iD: 0000-0003-1581-9118

Maria V. Makarova.

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 86 Profsoyuznaya St., 117997 Moscow

Russian Federation

M. V. Nemtsova

EVOGEN; Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)

ORCID iD: 0000-0002-2835-5992

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 1 Moskvorech’e St., Moscow 115522; Build. 2, 8 Trubetskaya St., Moscow 119991

Russian Federation

D. A. Chekini

Clinical Hospital “Lapino” of the “Mother and Child” Group of companies

ORCID iD: 0000-0001-8581-1328

111 1st Uspenskoe Shosse, Lapino, Moscow region 143081

Russian Federation

D. K. Chernevskiy

EVOGEN; Privolzhsky Research Medical University, Ministry of Health of Russia

ORCID iD: 0000-0002-9734-017X

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 10/1 Minina and Pozharskogo Ploshchad’, Nizhny Novgorod 603005

Russian Federation

O. V. Sagaydak

EVOGEN; National Medical Research Centre of Cardiology named after Academician E.I. Chazov, Ministry of Health of Russia

ORCID iD: 0000-0002-2534-8463

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 15A Academician Chazova St., Moscow 121359

Russian Federation

E. V. Kosova

EVOGEN

ORCID iD: 0000-0003-4732-6748

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191

Russian Federation

A. A. Krinitsyna

EVOGEN

ORCID iD: 0000-0002-0653-3655

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191

Russian Federation

M. S. Belenikin

EVOGEN

ORCID iD: 0000-0002-6556-163X

Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191

Russian Federation

P. A. Zeynalova

Clinical Hospital “Lapino” of the “Mother and Child” Group of companies

ORCID iD: 0000-0003-1564-424X

111 1st Uspenskoe Shosse, Lapino, Moscow region 143081

Russian Federation

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