全骨髓多发性骨髓瘤中TP53基因突变的诊断性深度靶向新一代测序评估 - Suppr

Diagnostic deep-targeted next-generation sequencing assessment of TP53 gene mutations in multiple myeloma from the whole bone marrow.

作者信息

Petrackova Anna, Minarik Jiri, Sedlarikova Lenka, Libigerova Tereza, Hamplova Alzbeta, Krhovska Petra, Balcarkova Jana, Pika Tomas, Papajik Tomas, Kriegova Eva

机构信息

Department of Immunology, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czech Republic.

Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czech Republic.

出版信息

Br J Haematol. 2020 May;189(4):e122-e125. doi: 10.1111/bjh.16547. Epub 2020 Mar 4.

DOI:10.1111/bjh.16547

PMID:32130732

Abstract

摘要

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Diagnostic deep-targeted next-generation sequencing assessment of TP53 gene mutations in multiple myeloma from the whole bone marrow.全骨髓多发性骨髓瘤中TP53基因突变的诊断性深度靶向新一代测序评估

Br J Haematol. 2020 May;189(4):e122-e125. doi: 10.1111/bjh.16547. Epub 2020 Mar 4.

Molecular spectrum of TP53 mutations in plasma cell dyscrasias by next generation sequencing: an Italian cohort study and overview of the literature.通过下一代测序分析浆细胞异常增生症中TP53突变的分子谱：一项意大利队列研究及文献综述

Oncotarget. 2016 Apr 19;7(16):21353-61. doi: 10.18632/oncotarget.7241.

Ultradeep, targeted sequencing reveals distinct mutations in blood compared to matched bone marrow among patients with multiple myeloma.超深度靶向测序显示，与多发性骨髓瘤患者配对的骨髓相比，其血液中存在不同的突变。

Blood Cancer J. 2019 Sep 30;9(10):77. doi: 10.1038/s41408-019-0238-0.

p53 gene mutations are rare in patients but common in patient-originating cell lines in multiple myeloma.p53基因突变在多发性骨髓瘤患者中罕见，但在源自患者的细胞系中常见。

Scand J Clin Lab Invest. 1997 Jul;57(4):281-9. doi: 10.3109/00365519709099401.

Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequencing.多区域测序揭示的多发性骨髓瘤中的空间基因组异质性

Nat Commun. 2017 Aug 16;8(1):268. doi: 10.1038/s41467-017-00296-y.

N-ras and p53 gene mutations are very rare events in multiple myeloma.N-ras和p53基因突变在多发性骨髓瘤中是非常罕见的事件。

Int J Hematol. 1995 Aug;62(2):91-7. doi: 10.1016/0925-5710(95)00394-8.

Bone marrow morphologic features, MyPRS, and gene mutation correlations in plasma cell myeloma.浆细胞骨髓瘤中的骨髓形态特征、MyPRS 和基因突变相关性。

Mod Pathol. 2020 Feb;33(2):188-195. doi: 10.1038/s41379-019-0333-6. Epub 2019 Aug 2.

A Rare Episode of Extensive Bone Marrow Necrosis in a Chemotherapy-naïve Patient with Multiple Myeloma Exhibiting and Mutations.一例初治多发性骨髓瘤患者发生广泛骨髓坏死的罕见病例，该患者存在和突变。（你提供的原文中存在部分缺失信息，这里是按照完整的翻译要求尽量翻译完整的内容）

Ann Clin Lab Sci. 2020 Jan;50(1):136-139.

The frequency and clinical outcome of mono-hit and multi-hit TP53 aberrations in newly diagnosed multiple myeloma.新诊断多发性骨髓瘤中单一击和多击 TP53 异常的频率和临床结局。

Pathology. 2024 Jun;56(4):556-564. doi: 10.1016/j.pathol.2023.12.415. Epub 2024 Feb 15.

Rare occurrence of P53 gene mutations in multiple myeloma.多发性骨髓瘤中P53基因突变的罕见发生情况。

Br J Haematol. 1992 Jul;81(3):440-3. doi: 10.1111/j.1365-2141.1992.tb08253.x.

引用本文的文献

Contribution of the Tumor Microenvironment to Metabolic Changes Triggering Resistance of Multiple Myeloma to Proteasome Inhibitors.肿瘤微环境对引发多发性骨髓瘤对蛋白酶体抑制剂耐药的代谢变化的作用。

Front Oncol. 2022 May 26;12:899272. doi: 10.3389/fonc.2022.899272. eCollection 2022.

Metabolic Disorders in Multiple Myeloma.多发性骨髓瘤的代谢紊乱。

Int J Mol Sci. 2021 Oct 22;22(21):11430. doi: 10.3390/ijms222111430.

Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities.全基因组光学图谱骨髓浆细胞揭示骨髓外多发性骨髓瘤与 1 号染色体异常相关。

Sci Rep. 2021 Jul 19;11(1):14671. doi: 10.1038/s41598-021-93835-z.

Metabolic Reprogramming Induces Immune Cell Dysfunction in the Tumor Microenvironment of Multiple Myeloma.代谢重编程在多发性骨髓瘤肿瘤微环境中诱导免疫细胞功能障碍。

Front Oncol. 2021 Jan 15;10:591342. doi: 10.3389/fonc.2020.591342. eCollection 2020.

A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results.基因组异常的纠结导致多发性骨髓瘤，并与疾病的临床侵袭性相关：从生物学角度到临床试验结果的全面综述。

Genes (Basel). 2020 Dec 3;11(12):1453. doi: 10.3390/genes11121453.

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Diagnostic deep-targeted next-generation sequencing assessment of TP53 gene mutations in multiple myeloma from the whole bone marrow.

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