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多发性骨髓瘤伴 17p13.1 缺失、t(4;14)和 13 号单体缺失的自发性肿瘤溶解综合征。

Spontaneous tumour lysis syndrome in multiple myeloma with loss of 17p13.1, t(4;14) and monosomy 13.

机构信息

Hematology/Oncology, University of Rochester, Rochester, New York, USA

Internal Medicine, Unity Hospital, Rochester, New York, USA.

出版信息

BMJ Case Rep. 2021 Feb 5;14(2):e234122. doi: 10.1136/bcr-2019-234122.

DOI:10.1136/bcr-2019-234122
PMID:33547114
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7871215/
Abstract

Tumour lysis syndrome (TLS) is a constellation of metabolic derangements caused by lysis of tumour cells. It is an oncological emergency that is considered a rare occurrence in multiple myeloma (MM) and usually occurs after patients have been treated with chemotherapy. We describe a very rare case of TLS occurring before the official diagnosis or treatment of MM. We report infrequent karyotype abnormalities, including loss of 17p13.1 ( mutation), t(4;14) () and monosomy 13, that have not been explicitly described in association with spontaneous tumour lysis syndrome (STLS) in MM. This case adds to the sparse literature available on STLS in MM, which is a life-threatening situation requiring urgent medical intervention.

摘要

肿瘤细胞溶解综合征 (TLS) 是由肿瘤细胞溶解引起的代谢紊乱的综合征。它是一种肿瘤急症,在多发性骨髓瘤 (MM) 中被认为是罕见的,通常发生在患者接受化疗后。我们描述了一例非常罕见的 TLS 在 MM 的正式诊断或治疗之前发生的病例。我们报告了不常见的核型异常,包括 17p13.1 缺失 ( 突变)、t(4;14)()和 13 单体,这些异常与 MM 中的自发性肿瘤细胞溶解综合征 (STLS) 并无明确关联。该病例增加了 MM 中 STLS 的文献记载,这种情况危及生命,需要紧急医疗干预。

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本文引用的文献

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A rare case of spontaneous tumor lysis syndrome in multiple myeloma.一例多发性骨髓瘤自发性肿瘤溶解综合征的罕见病例。
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Acute kidney injury in the patient with cancer.癌症患者的急性肾损伤
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Recommendations for the evaluation of risk and prophylaxis of tumour lysis syndrome (TLS) in adults and children with malignant diseases: an expert TLS panel consensus.恶性肿瘤成人和儿童肿瘤溶解综合征(TLS)风险评估和预防推荐:专家 TLS 小组共识。
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