Diagnosis of lung squamous cell carcinoma based on metagenomic Next-Generation Sequencing.
Copy number variation
Lung abscess
Lung squamous cell carcinoma
Metagenomic Next-Generation Sequencing
Pulmonary infection
Journal
BMC pulmonary medicine
ISSN: 1471-2466
Titre abrégé: BMC Pulm Med
Pays: England
ID NLM: 100968563
Informations de publication
Date de publication:
27 Mar 2022
27 Mar 2022
Historique:
received:
06
07
2021
accepted:
15
03
2022
entrez:
29
3
2022
pubmed:
30
3
2022
medline:
5
4
2022
Statut:
epublish
Résumé
The clinical treatment of patients suspected of pulmonary infections often rely on empirical antibiotics. However, preliminary diagnoses were based on clinical manifestations and conventional microbiological tests, which could later be proved wrong. In this case, we presented a patient whose initial diagnosis was lung abscess, but antibiotic treatments had no effect, and metagenomic Next-Generation Sequencing (mNGS) indicated presence of neoplasm. A 62-year-old female was diagnosed with lung abscess at three different health facilities. However, mNGS of bronchoalveolar lavage fluid did not support pulmonary infections. Rather, the copy number variation analysis using host DNA sequences suggested neoplasm. Using H&E staining and immunohistochemistry of lung biopsy, the patient was eventually diagnosed with lung squamous cell carcinoma. mNGS not only detects pathogens and helps diagnose infectious diseases, but also has potential in detecting neoplasm via host chromosomal copy number analysis. This might be beneficial for febrile patients with unknown or complex etiology, especially when infectious diseases were initially suspected but empirical antibiotic regimen failed.
Sections du résumé
BACKGROUND
BACKGROUND
The clinical treatment of patients suspected of pulmonary infections often rely on empirical antibiotics. However, preliminary diagnoses were based on clinical manifestations and conventional microbiological tests, which could later be proved wrong. In this case, we presented a patient whose initial diagnosis was lung abscess, but antibiotic treatments had no effect, and metagenomic Next-Generation Sequencing (mNGS) indicated presence of neoplasm.
CASE PRESENTATION
METHODS
A 62-year-old female was diagnosed with lung abscess at three different health facilities. However, mNGS of bronchoalveolar lavage fluid did not support pulmonary infections. Rather, the copy number variation analysis using host DNA sequences suggested neoplasm. Using H&E staining and immunohistochemistry of lung biopsy, the patient was eventually diagnosed with lung squamous cell carcinoma.
CONCLUSIONS
CONCLUSIONS
mNGS not only detects pathogens and helps diagnose infectious diseases, but also has potential in detecting neoplasm via host chromosomal copy number analysis. This might be beneficial for febrile patients with unknown or complex etiology, especially when infectious diseases were initially suspected but empirical antibiotic regimen failed.
Identifiants
pubmed: 35346137
doi: 10.1186/s12890-022-01894-3
pii: 10.1186/s12890-022-01894-3
pmc: PMC8958490
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
108Informations de copyright
© 2022. The Author(s).
Références
Am J Hum Genet. 2012 Oct 5;91(4):597-607
pubmed: 23040492
J Infect. 2022 Jan;84(1):e13-e17
pubmed: 34600934
Eur J Clin Microbiol Infect Dis. 2020 Feb;39(2):369-374
pubmed: 31813078
EBioMedicine. 2021 Nov;73:103639
pubmed: 34700283
Curr Protoc Toxicol. 2016 Feb 01;67:20.11.1-20.11.25
pubmed: 26828332
Clin Microbiol Rev. 2008 Apr;21(2):305-33, table of contents
pubmed: 18400799
Zentralbl Chir. 2015 Oct;140 Suppl 1:S47-53
pubmed: 26351764
Nat Microbiol. 2019 Apr;4(4):663-674
pubmed: 30742071
Intensive Care Med. 2006 Apr;32(4):599-603
pubmed: 16477410
Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71
pubmed: 18838674
Genome Res. 2009 Sep;19(9):1586-92
pubmed: 19657104
Front Cell Infect Microbiol. 2018 Jun 25;8:205
pubmed: 29988504
Eur Respir J. 1996 Oct;9(10):2017-21
pubmed: 8902460
Nat Genet. 2007 Jul;39(7 Suppl):S16-21
pubmed: 17597776
Clin Med (Lond). 2015 Jun;15(3):292-4
pubmed: 26031983
Genome Med. 2021 Jun 1;13(1):98
pubmed: 34074327
Nucleic Acids Res. 2014 Jul;42(12):e97
pubmed: 24771342