t细胞急性淋巴细胞白血病合并NUP214-ABL1融合和四倍体1例

IF 1.4 4区 医学 Q4 GENETICS & HEREDITY
Lijuan Zhu, Wei Zha, Jiajia Zhuo, Xia Yu
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引用次数: 0

摘要

虽然血液恶性肿瘤的检测和治疗已经标准化,但其他未识别的遗传异常往往使诊断和治疗结果复杂化。因此,当代治疗的改进需要基于详细的遗传信息对患者进行进一步的分层。在这里,我们描述了一例极其罕见的费城染色体样t细胞急性淋巴母细胞白血病(Ph-like T-ALL), NUP214-ABL1融合,白血病细胞中出现异常增大的细胞核,这归因于四倍体。尽管接受了方案指导的诱导化疗,但患者没有良好的反应。治疗具有罕见遗传异常的ph样T-ALL的挑战突出了进一步研究和个性化治疗的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of T-cell acute lymphoblastic leukemia with co-occurrence of NUP214-ABL1 fusion and tetraploidy
Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy. Despite receiving the protocol-guided induction chemotherapy, the patient did not respond favorably. The challenges in treating Ph-like T-ALL with rare genetic abnormalities, highlight the need of further research and personalized medication.
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来源期刊
Cancer Genetics
Cancer Genetics ONCOLOGY-GENETICS & HEREDITY
CiteScore
3.20
自引率
5.30%
发文量
167
审稿时长
27 days
期刊介绍: The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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