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3q21 跳跃易位患者的急性髓系白血病及不良临床结局。

Jumping translocation of 3q21 in a patient with acute myeloid leukemia and poor clinical outcome.

机构信息

Department of Genetics and Molecular Medicine, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, Maharashtra, India.

Department of Medical Oncology, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, Maharashtra, India.

出版信息

J Cancer Res Ther. 2024 Jul 1;20(5):1643-1646. doi: 10.4103/jcrt.jcrt_859_22. Epub 2023 Apr 4.

Abstract

Jumping translocation (JT) is a cytogenetic event in which a donor chromosomal segment is translocated to two or more recipient chromosomes. We describe a case of a 75-year-old female patient diagnosed with acute myeloid leukemia (AML) with monocytic differentiation having acquired JT involving 3q21→3qter as a donor chromosomal segment with 12 different recipient chromosomes. Each abnormal clone had monosomy 7 and trisomy 8. Patients with JT have an adverse outcome, a high risk of disease progression, and an unfavorable prognosis. This is the sixth case of JT involving 3q21 and the first case having 12 different recipient chromosomes (15 chromosomal segments) along with monosomy 7 in all abnormal clones reported in the literature.

摘要

跳跃易位(JT)是一种细胞遗传学事件,其中供体染色体片段易位到两个或更多的受体染色体上。我们描述了一例 75 岁女性患者,诊断为急性髓系白血病(AML)伴单核细胞分化,获得了 JT,涉及到 3q21→3qter 作为供体染色体片段,与 12 个不同的受体染色体。每个异常克隆都存在单体 7 和三体 8。患有 JT 的患者预后不良,疾病进展风险高,预后不佳。这是第六例涉及 3q21 的 JT 病例,也是文献中首例在所有异常克隆中均存在单体 7 的 12 个不同受体染色体(15 个染色体片段)的 JT 病例。

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