相关实验视频

Updated: May 21, 2025

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

Published on: November 26, 2018

光学基因组映射揭示了在缺乏IGH的地幔细胞淋巴瘤中循环激活的多种机制::CCND1

Guilin Tang¹, Preetesh Jain², Shimin Hu¹

¹Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Human pathology

|May 17, 2025

概括

大约10%的地幔细胞淋巴瘤 (MCL) 病例缺乏典型的t(11;14) /IGH::CCND1遗传标志. 光学基因组映射 (OGM) 有效地识别了替代的CCND1和CCND2重组,基因组复杂性与较差的结果有关.

科学领域:

血液学血液学血液学
遗传学遗传学是一个
在瘤学瘤学.

背景情况:

膜细胞淋巴瘤 (MCL) 的特征在约95%的病例中是t(11;14) /IGH::CCND1遗传异常.
了解超越经典标志的遗传变异对于MCL诊断和治疗至关重要.

研究的目的:

调查MCL病例中的遗传变异,特别是那些缺乏正规t ((11;14) /IGH::CCND1.1.的病例.
评估光学基因组映射 (OGM) 在识别MCL中各种CCND1和CCND2重排的实用性.

主要方法:

在91名MCL患者身上进行了光学基因组映射 (OGM).
综合分析使用下一代测序 (NGS),常规染色体分析和光在位杂交 (FISH).

主要成果:

在82%的病例中检测到t(11;14) /IGH::CCND1;10%缺乏这种异常.
转基因生物和NGS在7个案例中发现了替代的CCND1重组 (IGK::CCND1,IGL::CCND1,插入,删除,突变),在2个案例中发现了CCND2重组.
六个具有高度复杂基因组的病例显示治疗耐药性和/或生存率较差.

结论:

大约10%的MCL病例没有经典的t(11;14) /IGH::CCND1.1.
转基因是检测变异CCND1和CCND2重组的一个有价值的工具.
在MCL中,高基因组复杂性可能与化疗耐药性和不良结果相关.

关键词:

CCND1重新排列的情况 CCND2重新排列方式基因组复杂性基因组复杂性地膜细胞淋巴瘤是什么通过光学基因组映射进行了基因组映射.

更多相关视频

Tumor Engraftment in a Xenograft Mouse Model of Human Mantle Cell Lymphoma

Tumor Engraftment in a Xenograft Mouse Model of Human Mantle Cell Lymphoma

Published on: March 30, 2018

Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma

Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma

Published on: April 15, 2022

相关概念视频

Inhibition of Cdk Activity

Inhibition of Cdk Activity

The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...

M-Cdk Drives Transition Into Mitosis

M-Cdk Drives Transition Into Mitosis

Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...

Anaphase Promoting Complex

Anaphase Promoting Complex

The stepwise destruction of specific proteins is necessary for the progression and completion of the cell cycle. Such proteins are ubiquitinated by ubiquitin ligases and then subsequently destroyed by the proteasome. The SCF (Skp1/Cullin/F-box) and the anaphase-promoting complex (APC) are two important ubiquitin ligases involved in cell cycle progression. While SCF is active throughout the cell cycle, APC gets activated during metaphase to anaphase transition. Cdc20 or Cdh1 binds to APC and...