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Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease.

作者信息

Stork Martin, Ondrouskova Eva, Bohunova Michaela, Boichuk Ivanna, Fric Dominik, Adam Zdenek, Krejci Marta, Sandecka Viera, Knechtova Zdenka, Radova Lenka, Jelinkova Zuzana, Adlerova Tatana, Krticka Milan, Nekuda Vladimir, Borsky Marek, Sevcikova Sabina, Jarosova Marie, Pour Ludek

机构信息

Department of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

出版信息

Blood Cancer J. 2024 Aug 26;14(1):146. doi: 10.1038/s41408-024-01131-6.

DOI:10.1038/s41408-024-01131-6
PMID:39187485
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11347579/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be09/11347579/e8c9c5f7a0d2/41408_2024_1131_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be09/11347579/e8c9c5f7a0d2/41408_2024_1131_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be09/11347579/e8c9c5f7a0d2/41408_2024_1131_Fig1_HTML.jpg

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Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease.1p32缺失是伴有骨外病变的多发性骨髓瘤患者的早期高危事件。
Blood Cancer J. 2024 Aug 26;14(1):146. doi: 10.1038/s41408-024-01131-6.
2
[The Prognostic Value of Del(1p32) in Patients with Newly Diagnosed Multiple Myeloma].[Del(1p32)在新诊断多发性骨髓瘤患者中的预后价值]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Jun;32(3):768-773. doi: 10.19746/j.cnki.issn.1009-2137.2024.03.017.
3
Clinical characteristics and prognostic values of 1p32.3 deletion detected through fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma: a single-center study in China.通过荧光原位杂交技术检测初诊多发性骨髓瘤患者 1p32.3 缺失的临床特征及预后价值：中国单中心研究。
Front Med. 2020 Jun;14(3):327-334. doi: 10.1007/s11684-019-0712-x. Epub 2019 Nov 29.
4
Role of additional chromosomal changes in the prognostic value of t(4;14) and del(17p) in multiple myeloma: the IFM experience.额外染色体改变在多发性骨髓瘤中t(4;14)和del(17p)预后价值中的作用：IFM研究经验
Blood. 2015 Mar 26;125(13):2095-100. doi: 10.1182/blood-2014-07-587964. Epub 2015 Jan 30.
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[Correlation between chromosome 13q14 deletion and 1q abnormality in multiple myeloma].多发性骨髓瘤中13号染色体长臂14区缺失与1号染色体异常的相关性
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):102-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.024.
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Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.多发性骨髓瘤中 1p 缺失的图谱分析表明，1p12 上的 FAM46C 和 1p32.3 上的 CDKN2C 是与不良预后相关区域的基因。
Clin Cancer Res. 2011 Dec 15;17(24):7776-84. doi: 10.1158/1078-0432.CCR-11-1791. Epub 2011 Oct 12.
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Plasma cell labeling index correlates with deletion of 13q14 in multiple myeloma.浆细胞标记指数与多发性骨髓瘤中 13q14 的缺失相关。
Leuk Lymphoma. 2011 Feb;52(2):260-4. doi: 10.3109/10428194.2010.538775. Epub 2010 Dec 6.
8
Biallelic deletion of 1p32 defines ultra-high-risk myeloma, but monoallelic del(1p32) remains a strong prognostic factor.1p32 双等位基因缺失定义为超高危骨髓瘤，但单等位基因 del(1p32) 仍然是一个强有力的预后因素。
Blood. 2023 Mar 16;141(11):1308-1315. doi: 10.1182/blood.2022017863.
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1q21 amplification with additional genetic abnormalities but not isolated 1q21 gain is a negative prognostic factor in newly diagnosed patients with multiple myeloma treated with thalidomide-based regimens.伴有其他基因异常的1q21扩增而非孤立性1q21获得是接受沙利度胺方案治疗的新诊断多发性骨髓瘤患者的不良预后因素。
Leuk Lymphoma. 2012 Dec;53(12):2500-3. doi: 10.3109/10428194.2012.684349. Epub 2012 May 22.
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Deletion of the 1p32 region is a major independent prognostic factor in young patients with myeloma: the IFM experience on 1195 patients.1p32 区缺失是年轻骨髓瘤患者的一个主要独立预后因素：IFM 对 1195 例患者的经验。
Leukemia. 2014 Mar;28(3):675-9. doi: 10.1038/leu.2013.225. Epub 2013 Jul 29.

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Risk factors for multiple myeloma and its precursor diseases.多发性骨髓瘤及其前驱疾病的危险因素。
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Extramedullary myeloma is genomically complex and characterized by near-universal MAPK pathway alterations.髓外骨髓瘤具有基因组复杂性，其特征是几乎普遍存在丝裂原活化蛋白激酶（MAPK）信号通路改变。
Blood Adv. 2025 Aug 12;9(15):3979-3987. doi: 10.1182/bloodadvances.2025016619.

本文引用的文献

1
Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.超越骨髓：全面下一代测序对髓外多发性骨髓瘤肿瘤的深入见解。
Leukemia. 2024 Jun;38(6):1323-1333. doi: 10.1038/s41375-024-02206-w. Epub 2024 Mar 16.
2
Alterations in chromosome 1q in multiple myeloma randomized clinical trials: a systematic review.多发性骨髓瘤随机临床试验中1q染色体改变的系统评价
Blood Cancer J. 2024 Jan 25;14(1):20. doi: 10.1038/s41408-024-00985-0.
3
Characteristics and prognostic value of extramedullary chromosomal abnormalities in extramedullary myeloma.
髓外骨髓瘤中髓外染色体异常的特征及预后价值
Chin Med J (Engl). 2022 Oct 20;135(20):2500-2502. doi: 10.1097/CM9.0000000000002351.
4
Biallelic deletion of 1p32 defines ultra-high-risk myeloma, but monoallelic del(1p32) remains a strong prognostic factor.1p32 双等位基因缺失定义为超高危骨髓瘤，但单等位基因 del(1p32) 仍然是一个强有力的预后因素。
Blood. 2023 Mar 16;141(11):1308-1315. doi: 10.1182/blood.2022017863.
5
Paraskeletal and extramedullary plasmacytomas in multiple myeloma at diagnosis and at first relapse: 50-years of experience from an academic institution.初诊时和首次复发时多发性骨髓瘤中的骨旁和骨髓外浆细胞瘤：来自学术机构的 50 年经验。
Blood Cancer J. 2022 Sep 16;12(9):135. doi: 10.1038/s41408-022-00730-5.
6
The International Consensus Classification of Mature Lymphoid Neoplasms: a report from the Clinical Advisory Committee.成熟淋巴细胞肿瘤国际共识分类：临床咨询委员会报告。
Blood. 2022 Sep 15;140(11):1229-1253. doi: 10.1182/blood.2022015851.
7
The prognostic value of additional copies of 1q21 in multiple myeloma depends on the primary genetic event.1q21 额外拷贝在多发性骨髓瘤中的预后价值取决于主要的遗传事件。
Am J Hematol. 2020 Dec;95(12):1562-1571. doi: 10.1002/ajh.25994. Epub 2020 Sep 19.
8
Genetic Basis of Extramedullary Plasmablastic Transformation of Multiple Myeloma.多发性骨髓瘤髓外浆细胞瘤转化的遗传基础。
Am J Surg Pathol. 2020 Jun;44(6):838-848. doi: 10.1097/PAS.0000000000001459.
9
Extramedullary disease in multiple myeloma - controversies and future directions.多发性骨髓瘤中的髓外疾病——争议与未来方向。
Blood Rev. 2019 Jul;36:32-39. doi: 10.1016/j.blre.2019.04.002. Epub 2019 Apr 13.
10
Cytogenetics in multiple myeloma patients progressing into extramedullary disease.进展为髓外疾病的多发性骨髓瘤患者的细胞遗传学
Eur J Haematol. 2016 Jul;97(1):93-100. doi: 10.1111/ejh.12688. Epub 2015 Oct 19.