Rapid diagnosis of alveolar echinococcosis from lung puncture sample using metagenomic next-generation sequencing: a case report

• Published in: BMC infectious diseases 2024-07, Vol.24 (1), p.683-7, Article 683
• Main Authors: Zhou, Chuanlin, Li, Chunhong, Deng, Zhenfeng, Yan, Xuexin, Feng, Li, Yang, Zhen, Lu, Yanyan, Shi, Yinglong, Wang, Ke, Luo, Jing, Kong, Jinliang
• Format: Article
• Language: English
• Subjects: Abdomen; Albendazole; Albendazole - therapeutic use; Alveolar echinococcosis; Alveoli; Analysis; Animals; Antigens; B cells; Biopsy; Blood; Bones; Care and treatment; Case Report; Cell culture; Computed tomography; CT imaging; Diagnose; Diagnosis; DNA sequencing; Echinococcosis; Echinococcosis - diagnosis; Echinococcosis - parasitology; Echinococcosis, Pulmonary - diagnosis; Echinococcosis, Pulmonary - diagnostic imaging; Echinococcosis, Pulmonary - parasitology; Echinococcus multilocularis; Echinococcus multilocularis - genetics; Echinococcus multilocularis - isolation & purification; Eosinophils; Evaluation; Female; Health aspects; High-Throughput Nucleotide Sequencing; Hospitals; Humans; Infectious diseases; Inflammation; Leukocytes (eosinophilic); Liver; Liver diseases; Lung - diagnostic imaging; Lung - parasitology; Lung - pathology; Lung diseases; Lung nodules; Lungs; Lymph nodes; Lymphocytes; Medical tests; Metagenomic next-generation sequencing; Metagenomics; Metagenomics - methods; Middle Aged; Next-generation sequencing; Nodules; Nucleotide sequencing; Parasites; Plasma cells; Rare diseases; Sputum; Thyroid; Tissue culture; Tomography; Tomography, X-Ray Computed; Tuberculosis; Zoonoses
• ISSN: 1471-2334; 1471-2334
• DOI: 10.1186/s12879-024-09553-0

Alveolar echinococcosis (AE), caused by the larval forms of Echinococcus multilocularis, is a zoonotic disease affecting the liver, lungs, lymph nodes, kidneys, brain, bones, thyroid, and other organs. Diagnosing AE in a non-endemic area is usually challenging. With the rapid development and increasing application of sequencing techniques in recent years, metagenomic next-generation sequencing (mNGS) has become a powerful tool for diagnosing rare infectious diseases. A 45-year-old woman was admitted to the hospital for the presence of pulmonary shadows for more than 3 months. The lung computed tomography (CT) at a local hospital revealed scattered solid and quasi-circular nodules in the left upper lobe, left lower lobe, right middle lobe, and right lower lobe. The largest nodule was located in the dorsal part of the right lung, measuring 2.0 × 1.7 × 1.5 cm. Moreover, abdominal CT revealed one space-occupying lesion each in the left and right lobes. The pathological analysis of the lung biopsy specimen revealed infiltration of lymphocytes, plasma cells, and eosinophils in the alveolar wall and interstitial area. No pathogenic bacteria were observed in the sputum smear and culture tests. There were no parasite eggs in the stool. The mNGS of the lung puncture tissue revealed 6156 sequence reads matching E. multilocularis; thus, the condition was diagnosed as AE. Albendazole 400 mg was administered twice daily, and the patient was stable during follow-up. This case emphasizes the role of mNGS in diagnosing AE. As a novel, sensitive, and accurate diagnostic method, mNGS could be an attractive approach for facilitating early diagnosis and prompt treatment of infectious diseases, especially when the infection was caused by rare pathogens.