Kartagener Syndrome Complicated by Middle and Lower Lobar Mucinous Adenocarcinoma in the Left Lung

TL;DR

A rare case of Kartagener Syndrome combined with lung cancer is reported, highlighting the need for careful diagnosis in similar patients.

Contribution

This is the first documented case of Kartagener Syndrome coexisting with pulmonary mucinous adenocarcinoma.

Findings

The patient had Kartagener Syndrome confirmed by situs inversus totalis, chronic sinusitis, and bronchiectasis.

Invasive mucinous adenocarcinoma was confirmed via CT-guided biopsy and successfully treated with lobectomy and chemotherapy.

The case expands the known clinical spectrum of ciliopathy-associated lung malignancies.

Abstract

Kartagener syndrome (KS), a distinct subtype of primary ciliary dyskinesia, is linked to progressive lung disease; concurrent pulmonary mucinous adenocarcinoma mimicking pneumonia is rarely reported and easily misdiagnosed.

A 64-year-old female presented with years of recurrent cough and sputum. Chest computed tomography (CT) revealed bilateral chronic inflammation, interstitial changes, a left lower lobe mass-like shadow, partial bronchiectasis, and dextrocardia. Bronchoscopy showed chronic mucosal inflammation in the left lower lobe base segment; sputum culture was negative. Symptoms improved with antibiotics/expectorants. Two months later, worsening symptoms prompted re-evaluation. Extensive diagnostic tests (tumor markers, bacteriological/mycological, immunological, viral) were largely negative. CT-guided percutaneous lung biopsy confirmed invasive mucinous adenocarcinoma. Preoperative evaluation revealed situs inversus totalis, chronic sinusitis, and bronchiectasis, confirming concurrent KS. Following multidisciplinary discussion, she underwent thoracoscopic left middle and lower lobectomy with uncomplicated recovery; pathology confirmed R0 resection. She completed 5 cycles of adjuvant pemetrexed/platinum chemotherapy and remains recurrence-free on follow-up.

This represents the first documented case of KS coexisting with pulmonary invasive mucinous adenocarcinoma, to some extent expanding the clinical spectrum of ciliopathy-associated lung malignancies. It suggests that clinicians and radiologists should consider the possibility of concurrent mucinous adenocarcinoma in KS patients.

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