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多发性骨髓瘤患者中罕见的 IgH 基因扩增导致急性肾损伤病例报告。

Case Report of a Rare Incidence of IgH Amplification Leading to Acute Kidney Injury in a Multiple Myeloma Patient.

作者信息

Thanikachalam Sowmya, Srinivasalu Vijay Kumar, Nataraj K S, Damodar Sharat, Das Manjula

机构信息

Tumor Immunology Program, Mazumdar Shaw Medical Foundation, Bangalore, India.

Department of Medical Oncology, Mazumdar Shaw Medical Centre, Bangalore, India.

出版信息

Case Rep Oncol. 2021 Mar 2;14(1):274-278. doi: 10.1159/000510046. eCollection 2021 Jan-Apr.

DOI:10.1159/000510046
PMID:33776716
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7983541/
Abstract

We present a case report of a 62-year-old male, treated for kappa light chain multiple myeloma with chemotherapy followed by autologous stem cell transplant (ASCT) in 2014. He has been in complete remission for 4 years. In 2018, he was evaluated for hypercreatinemia and acute kidney injury(AKI) with a suspicion of disease relapse; he underwent evaluation with bone marrow aspiration cytology which showed no evidence of relapse. However, careful cytogenetic analyses showed IgH amplification (14q32) which probably was the cause for AKI in the absence of any structural abnormality in the kidney. Heavy chain deposition leads to AKI in multiple myeloma, and its association with IgH amplification leading to AKI is reported here. Though heavy chain deposition leading to AKI is common, IgH amplification at chromosome level is the first case observed.

摘要

我们报告一例62岁男性病例,该患者于2014年接受化疗及自体干细胞移植(ASCT)治疗kappa轻链多发性骨髓瘤。他已完全缓解4年。2018年,他因血肌酐升高和急性肾损伤(AKI)接受评估,怀疑疾病复发;他接受了骨髓穿刺细胞学检查,未发现复发迹象。然而,仔细的细胞遗传学分析显示免疫球蛋白重链(IgH)扩增(14q32),这可能是在肾脏无任何结构异常情况下导致AKI的原因。重链沉积可导致多发性骨髓瘤患者发生AKI,本文报道了其与导致AKI的IgH扩增之间的关联。虽然重链沉积导致AKI很常见,但染色体水平的IgH扩增是首次观察到的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/3b74d362243f/cro-0014-0274-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/44ca79e9cdbc/cro-0014-0274-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/b50fd5db3ff2/cro-0014-0274-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/908ee74bc5b0/cro-0014-0274-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/3b74d362243f/cro-0014-0274-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/44ca79e9cdbc/cro-0014-0274-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/b50fd5db3ff2/cro-0014-0274-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/908ee74bc5b0/cro-0014-0274-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1252/7983541/3b74d362243f/cro-0014-0274-g04.jpg

相似文献

1
Case Report of a Rare Incidence of IgH Amplification Leading to Acute Kidney Injury in a Multiple Myeloma Patient.多发性骨髓瘤患者中罕见的 IgH 基因扩增导致急性肾损伤病例报告。
Case Rep Oncol. 2021 Mar 2;14(1):274-278. doi: 10.1159/000510046. eCollection 2021 Jan-Apr.
2
Late Relapse of Multiple Myeloma with Testicular Plasmacytoma after Autologous Hematopoietic Stem Cell Transplantation: A Case Report and Review of the Literature.自体造血干细胞移植后多发性骨髓瘤合并睾丸浆细胞瘤的晚期复发:一例报告并文献复习
Ann Clin Lab Sci. 2018 Jan;48(1):120-125.
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Incidence and risk factors for acute kidney injury following autologous stem cell transplantation for multiple myeloma.自体造血干细胞移植治疗多发性骨髓瘤后急性肾损伤的发生率及危险因素。
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[Prognostic factors in newly diagnosed multiple myeloma patients with 1q21 amplification/gain treated with bortezomib-based regimens followed by autologous hematopoietic stem cell transplantation].[接受基于硼替佐米方案治疗并随后进行自体造血干细胞移植的新诊断1q21扩增/增加的多发性骨髓瘤患者的预后因素]
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Molecular cytogenetic aberrations in patients with multiple myeloma studied by interphase fluorescence in situ hybridization.采用间期荧光原位杂交技术研究多发性骨髓瘤患者的分子细胞遗传学畸变。
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Deletions and amplifications of the IGH variable and constant regions:a novel prognostic parameter in patients with multiple myeloma.IGH 可变区和恒定区的缺失和扩增:多发性骨髓瘤患者的一个新的预后参数。
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Pericardial relapse of multiple myeloma.多发性骨髓瘤的心包复发
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Multiple rearranged immunoglobulin genes in childhood acute lymphoblastic leukemia of precursor B-cell origin.前体B细胞起源的儿童急性淋巴细胞白血病中的多个重排免疫球蛋白基因
Leukemia. 1991 Aug;5(8):657-67.

本文引用的文献

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Current and future biomarkers for risk-stratification and treatment personalisation in multiple myeloma.多发性骨髓瘤风险分层和治疗个体化的当前和未来生物标志物。
Mol Omics. 2019 Feb 11;15(1):7-20. doi: 10.1039/c8mo00193f.
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Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma.
在多发性骨髓瘤中使用荧光原位杂交技术(FISH)比较t(4;14)和IGH分离探针的IGH谱信号
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Acquired Fanconi syndrome is an indolent disorder in the absence of overt multiple myeloma.获得性范科尼综合征是一种在无明显多发性骨髓瘤情况下的惰性疾病。
Blood. 2004 Jul 1;104(1):40-2. doi: 10.1182/blood-2003-10-3400. Epub 2004 Mar 9.
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Unusual case of leukemic mantle cell lymphoma with amplified CCND1/IGH fusion gene.伴有CCND1/IGH融合基因扩增的白血病性套细胞淋巴瘤罕见病例。
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