The prognostic value of ASXL1 mutation in primary myelofibrosis. Literature review and clinical case description

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Abstract

Primary myelofibrosis is a myeloproliferative neoplasm that occurs de novo, characterized by clonal proliferation of stem cells, abnormal expression of cytokines, bone marrow fibrosis, hepatosplenomegaly – as a result of extramedullary hematopoiesis, symptoms of tumor intoxication, cachexemia, peripheral blood leukoerythroblastosis, leukemic progression and low survival. Primary myelofibrosis is a chronic incurable disease. The aims of therapy: preventing progression, increasing overall survival, improving quality of life. The choice of therapeutic tactics is limited. Allogenic hematopoietic stem cell transplantation is the only method that gives a chance for a cure. The role of mutations in a number of genes in the early identification of candidates for allogeneic hematopoietic stem cell transplantation is being actively studied. The article describes the clinical case of the detection of ASXL1 gene mutations in a patient with prefibrous primary myelofibrosis. The diagnosis was established on the basis of WHO criteria 2016. The examination revealed a mutation of ASXL1. Interferon alfa therapy is carried out, against the background of which clinico-hematological remission has been achieved. Despite the identified mutation, the patient is not a candidate for allogeneic hematopoietic stem cell transplantation. Given the unfavorable prognostic value of the ASXL1 mutation, the patient is subject to active dynamic observation and aggressive therapeutic tactics when signs of disease progression appear.

About the authors

A. L. Melikyan

National Research Center for Hematology

Author for correspondence.
Email: anoblood@mail.ru
ORCID iD: 0000-0002-2119-3775

д.м.н., зав. отд-нием стандартизации методов лечения

Russian Federation, Moscow

I. N. Subortseva

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0001-9045-8653

к.м.н., c.н.с., врач-онколог отд-ния стандартизации методов лечения

Russian Federation, Moscow

E. A. Gilyazitdinova

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0002-3883-185X

врач-гематолог отд-ния стандартизации методов лечения

Russian Federation, Moscow

T. I. Koloshejnova

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0003-4580-040X

к.м.н., зам. зав. отд-нием стандартизации методов лечения

Russian Federation, Moscow

E. K. Egorova

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0002-6770-1544

к.м.н., врач-гематолог отд-ния стандартизации методов лечения

Russian Federation, Moscow

E. I. Pustovaya

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0002-1099-8092

к.м.н., врач-гематолог отд-ния стандартизации методов лечения

Russian Federation, Moscow

A. B. Sudarikov

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0001-9463-9187

д.б.н., проф., рук. лаб. молекулярной гематологии

Russian Federation, Moscow

A. O. Abdullaev

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0003-2530-808X

к.м.н., н.с. лаб. молекулярной гематологии

Russian Federation, Moscow

L. A. Gorgidze

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0001-5235-2356

к.б.н., с.н.с. отд-ния реанимации и интенсивной терапии с экспресс-лабораторией

Russian Federation, Moscow

D. I. Chebotarev

National Research Center for Hematology

Email: anoblood@mail.ru
ORCID iD: 0000-0003-2146-0818

врач-патологоанатом патологоанатомического отд-ния

Russian Federation, Moscow

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