Long-term survival of lung cancer despite neurofibromatosis type 1-associated diffuse lung disease

Neurofibromatosis type 1-associated diffuse lung disease (NF-DLD) is characterised by upper lobe predominant emphysematous changes and cystic lesions. However, its radiological features are heterogeneous, particularly with respect to the presence or absence of fibrosis. NF-DLD is associated with complications such as spontaneous pneumothorax, pulmonary hypertension and secondary infections, and, although rare, the coexistence of lung cancer has also been documented. We report the case of a man in his 50s with NF-DLD complicated by non-small cell lung cancer with mediastinal invasion. Although the clinical course was complicated by radiation pneumonitis and bacterial pneumonia, the patient achieved a complete response following multidisciplinary treatment, which has been sustained for 10 years. This case highlights a rare but clinically significant presentation with a favourable long-term outcome.