A case of non-small cell lung cancer in a patient with neurofibromatosis type 1

Abstract Neurofibromatosis type 1 is an autosomal dominant condition that classically presents with cafe au lait spots, cutaneous neurofibromas, axillary and inguinal freckling, and iris Lisch nodules. Patients diagnosed with NF-1 have an increased risk of malignancy, due to mutations associated with the tumour suppressor gene p53, however pulmonary malignancies are relatively uncommon. A 39-year-old female patient previously diagnosed with NF-1 presented with progressive dyspnoea and chest pain. Chest radiography and computed tomography (CT) demonstrated a left apical lung mass with mediastinal and pericardial infiltration. Metastatic deposits were identified in the brain, adrenal glands and thoracic spine on CT brain, chest and abdomen. Echocardiogram demonstrated a left ventricular mass suggestive of a cardiac fibroma with evidence of inferior vena cava invasion. Biopsy of a supraclavicular lymph node was performed and revealed a diagnosis of non-small cell lung adenocarcinoma. Lung cancer is an uncommon malignancy in the NF-1 population. This case report details a rare case of non-small cell lung cancer in a patient with NF-1, and highlights the need to consider the diagnosis of lung cancer in patients with NF-1 presenting with symptoms suggestive of pulmonary malignancy.