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Peer-reviewedCC BYMedicine

Cavitary lung squamous cell carcinoma misdiagnosed as pulmonary aspergillosis following targeted next-generation sequencing : A case report

  1. 1Department of Respiratory and Critical Care Medicine, Fuyang Infectious Disease Clinical College of Anhui Medical University, Fuyang, Anhui, China.

Abstract

Rationale:: Cavitary lung cancer, particularly squamous cell carcinoma (SCC), can closely mimic infectious cavitary diseases such as pulmonary aspergillosis. When molecular pathogen testing yields a positive result, the infectious diagnosis may be erroneously reinforced, and histological confirmation may be delayed.

Patient concerns:: A 68-year-old male farmer with a 40 pack-year smoking history presented with a 6-month history of cough, expectoration, and chest tightness. Chest computed tomography revealed a 66 mm × 70 mm thick-walled cavitary lesion in the left upper lobe. Targeted next-generation sequencing of bronchoalveolar lavage fluid at the referring hospital detected Aspergillus flavus sequences, leading to a misdiagnosis of pulmonary aspergillosis and 2.5 months of voriconazole therapy, during which the lesion progressed.

Diagnoses:: Repeat bronchoscopy at our institution revealed a fistulous opening with intracavitary nodules and necrotic material. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) at stations 4 L and 10 L confirmed poorly differentiated lung SCC. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET-CT) demonstrated hypermetabolism in the primary lesion, mediastinal lymph nodes, and sternum, supporting a clinical-radiological diagnosis of stage IVA (cT4N2M1b) disease.

Interventions:: The patient received first-line paclitaxel plus carboplatin combined with tislelizumab for 6 cycles, followed by tislelizumab maintenance monotherapy.

Outcomes:: A partial response according to the Response Evaluation Criteria in Solid Tumors version 1.1 was achieved after the first cycle, with sustained tumor shrinkage after 6 cycles and no evidence of disease progression during ongoing maintenance therapy.

Lessons:: In cavitary lung lesions, targeted next-generation sequencing detection of fungal sequences should not by itself override the need for histological evaluation, because molecular assays cannot distinguish colonization or contamination from invasive infection. Endobronchial ultrasound-guided transbronchial needle aspiration combined with positron emission tomography/computed tomography is valuable for diagnosis and staging when cavitary malignancy is suspected, and SCC remains an important subtype of cavitary lung cancer in long-term smokers.

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BibTeX
@article{shen2026cavitary,
  title = {{Cavitary lung squamous cell carcinoma misdiagnosed as pulmonary aspergillosis following targeted next-generation sequencing : A case report}},
  author = {Ya Shen and Xiao-Yu Cao and Jing-Feng Shi and Xiao-Bao Teng and Ming-Feng Han},
  journal = {Medicine},
  year = {2026},
  month = oct,
  doi = {10.1097/md.0000000000051432},
  url = {https://europepmc.org/article/PMC/PMC13727266},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Cavitary lung squamous cell carcinoma misdiagnosed as pulmonary aspergillosis following targeted next-generation sequencing : A case report
AU  - Ya Shen
AU  - Xiao-Yu Cao
AU  - Jing-Feng Shi
AU  - Xiao-Bao Teng
AU  - Ming-Feng Han
PY  - 2026
DA  - 2026/10/30
JO  - Medicine
DO  - 10.1097/md.0000000000051432
UR  - https://europepmc.org/article/PMC/PMC13727266
AB  - Rationale:: Cavitary lung cancer, particularly squamous cell carcinoma (SCC), can closely mimic infectious cavitary diseases such as pulmonary aspergillosis. When molecular pathogen testing yields a positive result, the infectious diagnosis may be erroneously reinforced, and histological confirmation may be delayed.  Patient concerns:: A 68-year-old male farmer with a 40 pack-year smoking history presented with a 6-month history of cough, expectoration, and chest tightness. Chest computed tomography revealed a 66 mm × 70 mm thick-walled cavitary lesion in the left upper lobe. Targeted next-generation sequencing of bronchoalveolar lavage fluid at the referring hospital detected Aspergillus flavus sequences, leading to a misdiagnosis of pulmonary aspergillosis and 2.5 months of voriconazole therapy, during which the lesion progressed.  Diagnoses:: Repeat bronchoscopy at our institution revealed a fistulous opening with intracavitary nodules and necrotic material. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) at stations 4 L and 10 L confirmed poorly differentiated lung SCC. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET-CT) demonstrated hypermetabolism in the primary lesion, mediastinal lymph nodes, and sternum, supporting a clinical-radiological diagnosis of stage IVA (cT4N2M1b) disease.  Interventions:: The patient received first-line paclitaxel plus carboplatin combined with tislelizumab for 6 cycles, followed by tislelizumab maintenance monotherapy.  Outcomes:: A partial response according to the Response Evaluation Criteria in Solid Tumors version 1.1 was achieved after the first cycle, with sustained tumor shrinkage after 6 cycles and no evidence of disease progression during ongoing maintenance therapy.  Lessons:: In cavitary lung lesions, targeted next-generation sequencing detection of fungal sequences should not by itself override the need for histological evaluation, because molecular assays cannot distinguish colonization or contamination from invasive infection. Endobronchial ultrasound-guided transbronchial needle aspiration combined with positron emission tomography/computed tomography is valuable for diagnosis and staging when cavitary malignancy is suspected, and SCC remains an important subtype of cavitary lung cancer in long-term smokers.
SN  - 0304-5412
SN  - 1536-5964
SN  - 0025-7974
ER  -