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通过宏基因组测序诊断的下颌骨弥漫性大B细胞淋巴瘤:一例报告

Diffuse Large B-Cell Lymphoma of the Mandible Diagnosed by Metagenomic Sequencing: A Case Report.

作者信息

Liu Kaili, Gao Yang, Han Jiawei, Han Xu, Shi Yingqi, Liu Chao, Li Jie

机构信息

Department of General Medical Ward, First Affiliated Hospital of Soochow University, Suzhou, China.

School of Biological Science and Medical Engineering, Beihang University, Beijing, China.

出版信息

Front Med (Lausanne). 2021 Dec 23;8:752523. doi: 10.3389/fmed.2021.752523. eCollection 2021.

DOI:10.3389/fmed.2021.752523
PMID:35004723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8732773/
Abstract

Non-Hodgkin lymphoma (NHL) has a much higher incidence rate than Hodgkin lymphoma. Approximately 40% NHL occurs in extranodal tissues or organs, and its clinical manifestations are often nonspecific. Primary bone NHL involving the mandible is an uncommon NHL that is characterized by fever, gum swelling and toothache. Therefore, it is often misdiagnosed as oral diseases. A 52-year-old female had recurrent fever for more than 1 month, with numbness in her left jaw and toothache. PET/CT showed an uptake area in the left mandible, suggesting microbial infections. However, antibacterial, and antiviral treatment were ineffective. Furthermore, metagenomic sequencing of plasma reported no pathogens, but instead showed significant copy number variations of multiple chromosomes, which highly suggested the existence of tumor. Finally, diffuse large B-cell lymphoma (DLBCL) was diagnosed by mandibular biopsy, and the patient was transferred to Hematology department for chemotherapy. mNGS not only assists rapid etiological diagnosis, but also helps rule out infection and diagnose malignant neoplasm.

摘要

非霍奇金淋巴瘤(NHL)的发病率远高于霍奇金淋巴瘤。约40%的NHL发生于结外组织或器官,其临床表现往往不具有特异性。累及下颌骨的原发性骨NHL是一种罕见的NHL,表现为发热、牙龈肿胀和牙痛。因此,它常被误诊为口腔疾病。一名52岁女性反复发热1个多月,伴有左侧颌部麻木和牙痛。PET/CT显示左侧下颌骨有摄取区域,提示微生物感染。然而,抗菌和抗病毒治疗均无效。此外,血浆宏基因组测序未报告病原体,但显示多条染色体存在显著的拷贝数变异,这强烈提示存在肿瘤。最后,通过下颌骨活检诊断为弥漫性大B细胞淋巴瘤(DLBCL),患者被转至血液科进行化疗。宏基因组二代测序(mNGS)不仅有助于快速进行病因诊断,还能帮助排除感染并诊断恶性肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/4e651b5b915b/fmed-08-752523-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/0f0743a48646/fmed-08-752523-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/91f8499b372a/fmed-08-752523-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/4e651b5b915b/fmed-08-752523-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/0f0743a48646/fmed-08-752523-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/91f8499b372a/fmed-08-752523-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f21/8732773/4e651b5b915b/fmed-08-752523-g0003.jpg

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