Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2021; 9(20): 5621-5630
Published online Jul 16, 2021. doi: 10.12998/wjcc.v9.i20.5621
Rapid diagnosis of disseminated Mycobacterium mucogenicum infection in formalin-fixed, paraffin-embedded specimen using next-generation sequencing: A case report
Jing Liu, Zi-Ying Lei, Yi-Hua Pang, Ying-Xiong Huang, Le-Jia Xu, Jian-Yun Zhu, Jia-Xing Zheng, Xiao-Hua Yang, Bing-Liang Lin, Zhi-Liang Gao, Chao Zhuo
Jing Liu, Zi-Ying Lei, Yi-Hua Pang, Le-Jia Xu, Jian-Yun Zhu, Jia-Xing Zheng, Xiao-Hua Yang, Bing-Liang Lin, Zhi-Liang Gao, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, Guangdong Province, China
Ying-Xiong Huang, Department of Emergency, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510000, Guangdong Province, China
Le-Jia Xu, Department of Pharmacy, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510630, Guangdong Province, China
Chao Zhuo, State Key Laboratory of Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, Guangdong Province, China
Author contributions: Liu J and Lei ZY contributed equally to this manuscript and should be regarded as co-first authors; Liu J and Lei ZY were the patient’s physicians, and collected and analyzed the patient’s medical data, wrote and revised the manuscript; Pang YH, Huang YX, Xu LJ, Zhu JY, Zheng JX, Yang XH and Lin BL participated in the treatment of the patient during hospitalization; Gao ZL and Zhuo C made a critical contribution to the treatment plan of the patient and critically revised the manuscript for important intellectual content, they contributed equally to this manuscript and should be regarded as co-corresponding authors; all authors issued final approval for the version to be submitted.
Supported by the Clinical Research Foundation of the Third Affiliated Hospital of Sun Yat-Sen University, No. YHJH201904; and National Science and Technology Major Project, No. 2018ZX10302204.
Informed consent statement: Informed written consent was obtained from the patient’s father for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zhi-Liang Gao, BMed, MD, PhD, Chief Physician, Professor, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-Sen University, No. 600 Tianhe Road, Guangzhou 510630, Guangdong Province, China. gaozhl@mail.sysu.edu.cn
Received: February 17, 2021
Peer-review started: February 17, 2021
First decision: March 11, 2021
Revised: March 31, 2021
Accepted: April 20, 2021
Article in press: April 20, 2021
Published online: July 16, 2021
Processing time: 139 Days and 23.5 Hours
Abstract
BACKGROUND

Mycobacterium mucogenicum (M. mucogenicum) belongs to the group of rapidly growing Nontuberculous mycobacteria. This microorganism is associated with a wide spectrum of infectious diseases. Due to a low detection rate or the time required for conventional culture methodology, a rapid and broad-spectrum method is necessary to identify rare pathogens.

CASE SUMMARY

A 12-year-old immunocompetent girl presented with painful masses for five months. The first mass was found in the right upper quadrant of the abdomen, and was about 1 cm × 1.5 cm in size, tough but pliable in texture, with an irregular margin and tenderness. An abscess gradually formed and ulcerated with suppuration of the mass. Three new masses appeared on the back one by one. Chest computed tomography showed patchy and streaky cloudy opacities in both lungs. Needle aspiration of the abscess was performed, but the smear and conventional culture were negative, and the pathological examination showed no pathogens. We then performed next-generation sequencing using a formalin-fixed, paraffin-embedded specimen to identify the pathogen. A significantly high abundance of M. mucogenicum was detected. The patient’s abscesses gradually decreased in size, while inflammation in both lungs improved following 12-wk of treatment. No recurrence was observed four months after the end of the one-year treatment period.

CONCLUSION

Next-generation sequencing is a promising tool for the rapid and accurate diagnosis of rare pathogens, even when using a formalin-fixed, paraffin-embedded specimen.

Keywords: Mycobacterium mucogenicum; Next-generation sequencing; Disseminated infection; Formalin-fixed, paraffin-embedded specimen; Rapid diagnosis; Case report

Core Tip: Mycobacterium mucogenicum (M. mucogenicum) belongs to the group of Nontuberculous mycobacteria, and is associated with a wide spectrum of clinical diseases, including osteomyelitis, respiratory tract, bloodstream, and disseminated infections in both immunocompetent and immunosuppressed individuals. However, time-consuming techniques and a low detection rate for identifying this pathogen usually lead to delayed or missed diagnosis. We present a case of disseminated infection with M. mucogenicum diagnosed in a formalin-fixed, paraffin-embedded (FFPE) specimen using next-generation sequencing (NGS). NGS is a promising tool for the rapid and accurate diagnosis of rare pathogens, even when using a FFPE specimen.