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宏基因组下一代测序与拷贝数变异分析的早期线索：一例伴有快速认知衰退的隐匿性柔脑膜转移病例

Early Hints of Metagenome Next-Generation Sequencing and Copy Number Variations Analysis: An Occult Case of Leptomeningeal Metastasis With Rapid Cognitive Decline.

作者信息

Chen Xueqin, Zheng Haotao, Wang Taoli, Feng Ziyang, Wang Jia, Liu Yangsicheng, Qin Wenxin, Kong Fanxin, Qin Xiude

机构信息

The Forth Clinical Medical College of Guangzhou University of Chinese Medicine Shenzhen Guangdong China.

Shenzhen Traditional Chinese Medicine Hospital Shenzhen Guangdong China.

出版信息

Clin Case Rep. 2024 Dec 2;12(12):e9676. doi: 10.1002/ccr3.9676. eCollection 2024 Dec.

DOI:10.1002/ccr3.9676
PMID:39624075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11609582/
Abstract

Early detection and treatment are critical for improving the prognosis of patients with leptomeningeal metastasis. However, heterogeneous clinical manifestations, non-specific imaging, and limited sensitivity of cerebrospinal fluid cytology posed challenges to identifying leptomeningeal metastasis in the early stage. Here we reported a case of lung adenocarcinoma complaining of rapid cognitive decline, whose magnetic resonance imaging showed interstitial brain edema. Under the circumstances of negative cerebrospinal fluid cytology, metagenome next-generation sequencing and copy number variations analysis were applied, which indicated leptomeningeal metastasis and was confirmed in the subsequent cytology.

摘要

早期发现和治疗对于改善柔脑膜转移患者的预后至关重要。然而，临床表现的异质性、非特异性影像学表现以及脑脊液细胞学检查的敏感性有限，给早期识别柔脑膜转移带来了挑战。在此，我们报告一例肺腺癌患者，其主诉认知功能迅速下降，磁共振成像显示脑间质水肿。在脑脊液细胞学检查结果为阴性的情况下，应用宏基因组二代测序和拷贝数变异分析，结果提示为柔脑膜转移，并在随后的细胞学检查中得到证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/28ddd0b4ac15/CCR3-12-e9676-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/2889fa74c701/CCR3-12-e9676-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/c5ddd642dff9/CCR3-12-e9676-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/edfa30ddcd9a/CCR3-12-e9676-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/28ddd0b4ac15/CCR3-12-e9676-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/2889fa74c701/CCR3-12-e9676-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/c5ddd642dff9/CCR3-12-e9676-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/edfa30ddcd9a/CCR3-12-e9676-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa1e/11609582/28ddd0b4ac15/CCR3-12-e9676-g002.jpg

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本文引用的文献

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Brain parenchymal and leptomeningeal metastasis in non-small cell lung cancer.非小细胞肺癌的脑实质和软脑膜转移。
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Neurological symptom burden impacts survival prognosis in patients with newly diagnosed non-small cell lung cancer brain metastases.新发非小细胞肺癌脑转移患者的神经症状负担影响生存预后。
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Cancer cells deploy lipocalin-2 to collect limiting iron in leptomeningeal metastasis.癌细胞利用脂钙蛋白-2在脑膜转移中收集有限的铁。
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Metagenomics for neurological infections - expanding our imagination.神经感染的宏基因组学——拓展我们的想象。
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Metagenomic Next-Generation Sequencing for Diagnosis of Infectious Encephalitis and Meningitis: A Large, Prospective Case Series of 213 Patients.宏基因组下一代测序在感染性脑炎和脑膜炎诊断中的应用：一项 213 例患者的大型前瞻性病例系列研究。
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