Double-mutant invasive mucinous adenocarcinoma of the lung in a 32-year-old male patient: A case report

BACKGROUND: Invasive mucinous adenocarcinoma of the lung, formerly known as mucinous bronchioloalveolar carcinoma, is a rare category of lung tumors and radiologically characterized by dense pneumonic consolidation, ground-glass opacity, crazy paving, and nodules. However, early pleural effusion is uncommon in this malignancy. CASE SUMMARY: The case of a 32-year-old male patient who visited our facility with symptoms of cough and gradually aggravated shortness of breath was reported. X-ray examination revealed a massive left hydrothorax. The patient underwent thoracocentesis, and pleural fluid tumor markers, including carcinoembryonic antigen, carbohydrate antigen 19-9, neuron-specific enolase, and cytokeratin 21-1 fragment, were significantly elevated. A similar tendency was observed among the serum tumor markers. After draining the pleural effusion, the patient underwent chest computed tomography, and no obvious mass was found in the lung. Thoracoscopy revealed that the left visceral pleura was covered with nodular, cauliflower-like protrusions of various sizes. These histopathological results suggested cancerous cells, and the immunohistochemical findings were consistent with mucinous adenocarcinoma of pulmonary origin. It tested positive for cytokeratin, cytokeratin 5/6, carcinoembryonic antigen, and thyroid transcription factor-1. CONCLUSION: The patient was diagnosed with a rare case of lung mucinous adenocarcinoma. Subsequent genetic testing was positive for epidermal growth factor receptor-21 mutations and echinoderm microtubule-associated protein-like 4-lymphoma anaplastic kinase fusion. This prompted treatment with alfatinib and crizotinib.