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慢性髓系白血病中导致早期进展为急变期的复杂细胞遗传学异常:一例报告

Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report.

作者信息

Malakzai Haider Ali, Rahmani Soma, Haidary Ahmed Maseh, Noor Sarah, Ahmad Maryam, Ibrahimkhil Abdul Sami, Sharif Samuel

机构信息

Department of Pathology and Laboratory Medicine, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.

Department of Haemato-Oncology, Jumhoriat Hospital, Ministry of Public Health, Kabul, Afghanistan.

出版信息

J Med Case Rep. 2020 Nov 27;14(1):231. doi: 10.1186/s13256-020-02539-x.

Abstract

INTRODUCTION

BCR-ABL1, resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease. Molecular studies have been the gold standard modality for patient assessment since the advent of tyrosine kinase inhibitor therapy. In spite of that, there are cytogenetic abnormalities that can render the disease unresponsive to conventional therapy, thus making cytogenetics an important component of patient management guidelines.

CASE PRESENTATION

We present a case of a Tajik, Afghan patient with chronic myeloid leukemia with del(6)(q23.3q27), t(9;22)(q34;q11.2), monosomy 11, monosomy 12, and marker chromosome who, despite having typical clinical and hematological disease with initial response to therapy, progressed to blast crisis very early and thus required special interventions.

CONCLUSION

Cytogenetic monitoring is an important pillar in the management of patients with chronic myeloid leukemia that cannot be ignored. It should therefore be a part of patient management not only during diagnosis but also during management. We present an unusual cytogenetic abnormality in a patient with chronic myeloid leukemia that resulted in early disease progression.

摘要

引言

由t(9;22)产生的BCR-ABL1是慢性髓性白血病的致癌驱动因素及该疾病的治疗靶点。自酪氨酸激酶抑制剂疗法问世以来,分子研究一直是患者评估的金标准方式。尽管如此,仍存在一些细胞遗传学异常可导致疾病对传统疗法无反应,因此细胞遗传学成为患者管理指南的重要组成部分。

病例报告

我们报告一例患有慢性髓性白血病的塔吉克族阿富汗患者,其存在del(6)(q23.3q27)、t(9;22)(q34;q11.2)、11号染色体单体、12号染色体单体和标记染色体,尽管具有典型的临床和血液学疾病且初始治疗有反应,但疾病进展非常早,进入急变期,因此需要特殊干预。

结论

细胞遗传学监测是慢性髓性白血病患者管理中不可忽视的重要支柱。因此,它不仅应在诊断期间,而且应在管理期间成为患者管理的一部分。我们报告了一例慢性髓性白血病患者出现的不寻常细胞遗传学异常,该异常导致疾病早期进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4429/7694935/13d3f4aa885e/13256_2020_2539_Fig1_HTML.jpg

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