Clinical observation of chronic myeloid leukemia with variant translocation and supplementary rearrangement t(1;8)(q23;q24.3)

Author:

Assesorova Yu. Yu.1ORCID,Mustafina L. K.1ORCID,Yusupova S. A.1ORCID,Samarina K. S.1ORCID

Affiliation:

1. Scientific Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan

Abstract

Introduction. Some patients with chronic myeloid leukemia (CML) have cytogenetically variant forms of translocation that lead to the formation of the coalesced BCR-ABL gene. The adverse course and progression of the disease are often accompanied by the appearance of additional chromosomal abnormalities in the karyotype of the patient.Aim — to describe a clinical observation of CML that occurred with the simultaneous presence of a variant translocation and a unique additional rearrangement in the patient’s karyotype.Main findings. A conventional cytogenetic analysis performed in a patient with primary immune thrombocytopenia and subsequently developed chronic myeloid leukemia revealed a variant translocation t(X;9;22)(q28;q34;q11.2), as well as an additional chromosomal anomaly t(1;8)(q23;q24.1). The presented case of observation shows that a standard cytogenetic study is an important part of the examination of patients with hematological pathologies, since it allows identifying chromosomal changes that have diagnostic and prognostic signifi cance.

Publisher

National Medical Research Center of Hematology of the Ministry of Health of the Russian Federation

Subject

Hematology

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