Open AccessClinical observation of chronic myeloid leukemia with variant translocation and supplementary rearrangement t(1;8)(q23;q24.3)
Author(s) -
Ю. Ю. Ассесорова,
Л. К. Мустафина,
С. А. Юсупова,
К. С. Самарина
Publication year - 2021
Publication title -
gematologiâ i transfuziologiâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 5
eISSN - 2411-3042
pISSN - 0234-5730
DOI - 10.35754/0234-5730-2021-66-3-424-432
Subject(s) - chromosomal translocation , myeloid leukemia , karyotype , breakpoint cluster region , cytogenetics , biology , leukemia , gene rearrangement , philadelphia chromosome , myeloid , cancer research , immunology , pathology , medicine , chromosome , genetics , gene
. 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.