Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development
M. V. Makarova,
M. V. Nemtsova,
D. A. Chekini,
D. K. Chernevskiy,
O. V. Sagaydak,
E. V. Kosova,
A. A. Krinitsyna,
M. S. Belenikin,
P. A. Zeynalova https://doi.org/10.17650/1818-8346-2024-19-2-88-100
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
Russian Federation
Russian Federation
Maria V. Makarova.
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 86 Profsoyuznaya St., 117997 Moscow
M. V. Nemtsova
EVOGEN; Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 1 Moskvorech’e St., Moscow 115522; Build. 2, 8 Trubetskaya St., Moscow 119991
D. A. Chekini
Clinical Hospital “Lapino” of the “Mother and Child” Group of companies
Russian Federation
Russian Federation
111 1st Uspenskoe Shosse, Lapino, Moscow region 143081
D. K. Chernevskiy
EVOGEN; Privolzhsky Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 10/1 Minina and Pozharskogo Ploshchad’, Nizhny Novgorod 603005
O. V. Sagaydak
EVOGEN; National Medical Research Centre of Cardiology named after Academician E.I. Chazov, Ministry of Health of Russia
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191; 15A Academician Chazova St., Moscow 121359
E. V. Kosova
EVOGEN
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191
A. A. Krinitsyna
EVOGEN
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191
M. S. Belenikin
EVOGEN
Russian Federation
Russian Federation
Build 1, 20 4th Roshchinskiy Proezd, Moscow 115191
P. A. Zeynalova
Clinical Hospital “Lapino” of the “Mother and Child” Group of companies
Russian Federation
Russian Federation
111 1st Uspenskoe Shosse, Lapino, Moscow region 143081
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Makarova M.V., Nemtsova M.V., Chekini D.A., Chernevskiy D.K., Sagaydak O.V., Kosova E.V., Krinitsyna A.A., Belenikin M.S., Zeynalova P.A. Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development. Oncohematology. 2024;19(2):88-100. (In Russ.) https://doi.org/10.17650/1818-8346-2024-19-2-88-100
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