Lung Adenocarcinoma in Primary Ciliary Dyskinesia: A Case Report of Metastatic Disease and Successful Multimodal Treatment.

INTRODUCTION

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired mucociliary clearance. To our knowledge, no cases of lung adenocarcinoma in patients with PCD have been previously reported.

CASE PRESENTATION: A 43-year-old White man with PCD presented with persistent cough and dysphonia. Chest imaging revealed a 4-cm mass in the left upper lobe, and positron emission tomography/computed tomography (PET/CT) demonstrated increased uptake in the mass, hilar lymph nodes, and sternum, suggesting metastatic disease. Biopsy of the lung mass confirmed adenocarcinoma, and magnetic resonance imaging of the brain identified a metastatic lesion. He was treated initially with pembrolizumab and stereotactic radiation therapy for a brain metastasis and had a mixed response. Consequently, chemotherapy with carboplatin and pemetrexed was added, resulting in complete response, with no fluorodeoxyglucose-avid lesions on follow-up PET imaging.

DISCUSSION: With only 8 reported cases of lung cancer in patients with PCD, this is, to our knowledge, the first report of lung adenocarcinoma in a patient with PCD successfully treated with chemoimmunotherapy.

CONCLUSIONS

Although rare, clinicians should consider lung cancer in patients with PCD who present with persistent symptoms refractory to standard treatment.