AML1-ETO 与 BCR-ABL 共存的急性髓细胞白血病在慢性髓性白血病的白血病转化中发生的克隆进化以及其他染色体异常。

Clonal evolution of AML1-ETO coexisting with BCR-ABL and additional chromosome abnormalities in a blastic transformation of chronic myeloid leukemia.

机构信息

Department of Hematology, Lanzhou University Second Hospital, Lanzhou, Gansu, People's Republic of China.

出版信息

J Int Med Res. 2020 May;48(5):300060520919237. doi: 10.1177/0300060520919237.

DOI:10.1177/0300060520919237

PMID:32366154

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7218979/

Abstract

Blast crisis develops in a minority of patients with chronic myeloid leukemia even in the era of tyrosine kinase inhibitor (TKI) therapy. Reports suggest that we know little about the mechanism of BCR-ABL and AML1-ETO co-expression in blast crisis of chronic myeloid leukemia, and that other chromosomal abnormalities also coexist. Here, we document an unusual and interesting case of a 51-year-old female diagnosed in the chronic phase of chronic myeloid leukemia. After undergoing TKI treatment for 3 months, her bone marrow aspirates in the chronic phase had transformed to blast crisis. Molecular genetic testing indicated she was positive for p210 form of BCR-ABL (copy number decreased from 108.91% to 56.96%) and AML1-ETO fusion (copy number, 5.65%) genes and had additional chromosomal abnormalities of t(8; 21)(q22; q22)/t(9; 22)(q34; q11), t(2; 5)(p24; q13) and an additional +8 chromosome.

摘要

尽管在酪氨酸激酶抑制剂 (TKI) 治疗时代，少数慢性髓性白血病患者会发展为急变期。但有报告称，我们对慢性髓性白血病急变期中 BCR-ABL 和 AML1-ETO 共表达的机制知之甚少，而且还存在其他染色体异常。在这里，我们记录了一例不常见且有趣的 51 岁女性慢性髓性白血病慢性期患者的病例。该患者在接受 TKI 治疗 3 个月后，慢性期的骨髓抽吸物转化为急变期。分子遗传学检测表明，她的 BCR-ABL（p210 形式）（拷贝数从 108.91%下降至 56.96%）和 AML1-ETO 融合（拷贝数为 5.65%）基因阳性，并且还存在额外的染色体异常 t(8;21)(q22;q22)/t(9;22)(q34;q11)、t(2;5)(p24;q13)和一个额外的+8 号染色体。