Type I neurofbromatosis complicated by large cell neuroendocrine carcinoma of the lung

Abstract

Neurofbromatosis 1 (NF 1), or Von Recklinghausen’s disease, is one of the most common genetic diseases that are shown to be associ- ated with several malignancies. The most common malignant tumors associated with NF are neurogenic tumors, while primary lung carcinomas are quite rare. We reported a 40-year-old patient, with a known family history of NF 1, who suffered from cough, dyspnea, and impaired general condition for the past 5 months. Radiography and CT chest showed the presence of a large left upper lobe mass measuring 13 cm in transverse diameter and 16 cm in anteroposterior diameter pressing on the trachea, left main bronchus, aortic arch, and left pulmonary artery. It was associated with multiple hilar and carinal lymph nodes, reticular nodular interstitial infltrate on the right upper lobe, pericardial effusion, and minimal left pleural effusion; we also noted the presence of a hypodense cutaneous mass on the left upper anterior chest wall measuring 2.8 cm in diameter, and there was no lytic rib lesion. Bronchoscopy revealed the presence of several vegetations, and the biopsy was compatible with large cell neuroendocrine carcinoma. There were multiple liver, bone, and pleural-pericardial metastases. Palliative chemotherapy was indicated. The patient died 4 months after the diagnosis. Association of Von Recklinghausen’s disease with lung cancer is quite rare; nevertheless, it increases disease severity and is related with poor survival. Be - cause of its unpredictable evolution, regular supervision is necessary.