Molecular and cytogenetic features of primary myelofibrosis



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Abstract

Primary myelofibrosis is a myeloproliferative neoplasm characterized by bone marrow fibrosis and the risk of leukemic transformation. Clonal hematopoiesis underlying this pathology is caused by transformation of hematopoietic stem cells by somatic mutations of the genome which may lead to both aberrant proliferation and differentiation. The variability of the clinical course and prognosis of primary myelofibrosis is largely determined by the spectrum of molecular and cytogenetic defects detected in tumor cells. This review describes the currently known somatic mutations defined in patients with primary myelofibrosis and possible ways of their pathogenic action are discussed. Recent data of the impact of molecular and cytogenetic abnormalities in clinical features and prognosis of the disease were analyzed.

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About the authors

L. B Polushkina

Russian research institute of hematology and transfusiology

Saint Petersburg, Russia

I. S Martynkevich

Russian research institute of hematology and transfusiology

Saint Petersburg, Russia

V. A Shuvaev

Russian research institute of hematology and transfusiology

Saint Petersburg, Russia

M. S Fominykh

Russian research institute of hematology and transfusiology

Saint Petersburg, Russia

E. V Karyagina

City hospital № 15

Saint Petersburg, Russia

A. M Savrilova

Republican Clinical Hospital

Kazan, Russia

K. M Abdulkadyrov

Russian research institute of hematology and transfusiology

Saint Petersburg, Russia

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