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AL淀粉样变性的分子图谱。

The molecular landscape of AL amyloidosis.

作者信息

Zvida-Bloch Tal, Muchtar Eli, Dispenzieri Angela, Shpilberg Ofer, Hershkovitz-Rokah Oshrat

机构信息

Department of Molecular Biology, Faculty of Natural Sciences, Ariel University, Ariel, Israel.

Translational Research Lab, Assuta Medical Centers, Tel-Aviv, Israel.

出版信息

Br J Haematol. 2025 May;206(5):1297-1311. doi: 10.1111/bjh.20070. Epub 2025 Apr 11.

DOI:10.1111/bjh.20070
PMID:40211787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12078870/
Abstract

Amyloid light-chain (AL) amyloidosis is a systemic clonal plasma cell disorder characterized by the production and deposition of misfolded immunoglobulin light chains (LCs), resulting in multiorgan dysfunction. Due to its intricate molecular mechanisms and diverse organ involvement, the disease poses significant diagnostic and therapeutic challenges. This review explores the molecular landscape of AL amyloidosis, emphasizing genetic, transcriptomic and proteomic alterations. Key findings include chromosomal abnormalities, somatic mutations, aberrant gene expression, disrupted protein folding pathways and the role of cytokine and chemokine secretion. These factors collectively drive the overproduction and destabilization of amyloidogenic LCs, leading to organ-specific amyloid deposition, clinical heterogeneity and variable patient outcomes. Despite therapeutic advancements, the disease's complexity challenges the development of effective biological models. Progressing towards personalized therapies requires the development of preclinical models and the identification of biomarkers and molecular data to design targeted interventions. This review highlights the importance of integrating DNA, RNA and protein-level analyses to deepen the understanding of AL amyloidosis pathogenesis. Such insights are pivotal for improving diagnostics, prognostics and therapeutic strategies, ultimately advancing precision medicine for this challenging disease.

摘要

淀粉样轻链(AL)淀粉样变性是一种系统性克隆性浆细胞疾病,其特征是错误折叠的免疫球蛋白轻链(LC)产生并沉积,导致多器官功能障碍。由于其复杂的分子机制和多器官受累,该疾病带来了重大的诊断和治疗挑战。本综述探讨了AL淀粉样变性的分子格局,重点强调了遗传、转录组和蛋白质组学改变。主要发现包括染色体异常、体细胞突变、异常基因表达、蛋白质折叠途径紊乱以及细胞因子和趋化因子分泌的作用。这些因素共同导致淀粉样轻链的过度产生和不稳定,从而导致器官特异性淀粉样沉积、临床异质性和不同的患者预后。尽管治疗取得了进展,但该疾病的复杂性对有效生物学模型的开发构成了挑战。向个性化治疗迈进需要开发临床前模型并识别生物标志物和分子数据,以设计靶向干预措施。本综述强调了整合DNA、RNA和蛋白质水平分析以加深对AL淀粉样变性发病机制理解的重要性。这些见解对于改善诊断、预后和治疗策略至关重要,最终推动针对这一具有挑战性疾病的精准医学发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2716/12078870/659185cd41df/BJH-206-1297-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2716/12078870/44a398d28c4c/BJH-206-1297-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2716/12078870/659185cd41df/BJH-206-1297-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2716/12078870/44a398d28c4c/BJH-206-1297-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2716/12078870/659185cd41df/BJH-206-1297-g003.jpg

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本文引用的文献

1
Efficacy and Safety of Anti-B-Cell Maturation Antigen Chimeric Antigen Receptor T-Cell for the Treatment of Relapsed and Refractory AL Amyloidosis.抗B细胞成熟抗原嵌合抗原受体T细胞治疗复发难治性AL淀粉样变性的疗效与安全性
J Clin Oncol. 2024 Dec 9:JCO2402252. doi: 10.1200/JCO-24-02252.
2
Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee.淀粉样变命名 2024:更新、新蛋白及国际淀粉样变学会(ISA)命名委员会的建议。
Amyloid. 2024 Dec;31(4):249-256. doi: 10.1080/13506129.2024.2405948. Epub 2024 Sep 30.
3
Prognostic impact of cytogenetic abnormalities detected by FISH in AL amyloidosis with daratumumab-based frontline therapy.
荧光原位杂交(FISH)检测的细胞遗传学异常对接受基于达雷妥尤单抗的一线治疗的 AL 淀粉样变性的预后影响
Blood. 2024 Dec 19;144(25):2613-2624. doi: 10.1182/blood.2024025899.
4
The Role of Cytokines in Neutrophil Development, Tissue Homing, Function and Plasticity in Health and Disease.细胞因子在健康与疾病中中性粒细胞发育、组织归巢、功能及可塑性方面的作用
Cells. 2023 Jul 31;12(15):1981. doi: 10.3390/cells12151981.
5
Amyloidogenic light chains impair plasma cell survival.淀粉样轻链可损害浆细胞存活。
Haematologica. 2023 Dec 1;108(12):3359-3371. doi: 10.3324/haematol.2022.282484.
6
Clinical Characteristics and Outcomes of Cyclin D1-Positive AL Amyloidosis.细胞周期蛋白D1阳性AL型淀粉样变性的临床特征与转归
Am J Clin Pathol. 2023 Aug 1;160(2):157-163. doi: 10.1093/ajcp/aqad013.
7
Impact of cytogenetic abnormalities on treatment outcomes in patients with amyloid light-chain amyloidosis: subanalyses from the ANDROMEDA study.细胞遗传学异常对淀粉样轻链淀粉样变性患者治疗结局的影响:来自 ANDROMEDA 研究的亚分析。
Amyloid. 2023 Sep;30(3):268-278. doi: 10.1080/13506129.2022.2164488. Epub 2023 Feb 13.
8
AL amyloidosis clonal plasma cells are regulated by microRNAs and dependent on anti-apoptotic BCL2 family members.AL 淀粉样变性克隆浆细胞受 microRNAs 调控,并依赖于抗凋亡 BCL2 家族成员。
Cancer Med. 2023 Apr;12(7):8199-8210. doi: 10.1002/cam4.5621. Epub 2023 Jan 24.
9
Understanding AL amyloidosis with a little help from models.借助模型理解 AL 淀粉样变性。
Front Immunol. 2022 Nov 15;13:1008449. doi: 10.3389/fimmu.2022.1008449. eCollection 2022.
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Exploiting endogenous and therapy-induced apoptotic vulnerabilities in immunoglobulin light chain amyloidosis with BH3 mimetics.利用 BH3 模拟物在免疫球蛋白轻链淀粉样变性中内源性和治疗诱导的凋亡脆弱性。
Nat Commun. 2022 Oct 2;13(1):5789. doi: 10.1038/s41467-022-33461-z.