INTRODUCTION: Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome characterized by benign and malignant tumors involving several organs. The presence of lung lesions in patients with VHL is extremely rare, and only one case of primary cystoadenoma of the lung has been previously reported1. Approximately 10% of patients with VHL develop neuroendocrine tumors of the gastrointestinal tract2. To our knowledge, neuroendocrine tumors of the lung in patients with VHL have not been previously described. We present a case of a 27-year-old man with history of VHL, who presented with hemoptysis due to primary endobronchial carcinoid tumor.
CASE PRESENTATION: A 27-year-old non-smoker man with history of VHL and a previously resected hemangioblastoma of the brain stem and a pheocromocytoma of the left adrenal gland, presented with hemoptysis. The first manifestation of hemoptysis was six months prior to our consultation, when he developed cough with expectoration of trace amounts of blood, which resolved spontaneously over a period of one week. The patient did well for six months until he developed recurrent hemoptysis with 6-7 tea-spoons of bright red blood per day. Physical exam was remarkable for focal right sided wheezing. A CT of the chest showed a 2.5 mm right lower lobe nodule. This prompted further evaluation with fiber optic bronchoscopy, which showed a multilobulated polypoid lesion of the right lower lobe as well as a single lesion in the right middle lobe (figure 1). Because of concern that this could represent a vascular tumor, a second bronchoscopy was performed in the operating room, where cold forceps biopsies were obtained, demonstrating the presence of a carcinoid tumor. The patient was treated with complete resection of the right lower and middle lobes due to the location of the lesions. One of four lymph nodes was positive for metastatic carcinoid (T1N1MX).
DISCUSSION: The mutation of the VHL gene is present in 1/36,000 live births, with a 90% penetrance by 65 years of age. The VHL protein is a tumor-suppressor factor that degrades hypoxia inducible factors which increase the expression of angiogenic proliferative factors. The loss of VHL protein leads to the development of VHL associated tumors. The characteristic neoplasias of VHL are retinal and craniospinal hemangioblastomas, endolymphatic sac tumors of the middle ear, clear cell renal cell carcinomas, pheochromocytomas, pancreatic neuroendocrine tumors, and epididymal and broad ligament cystoadenomas. VHL disease is characterized by the development of several neoplasias in multiple organs; however, primary lung involvement is extremely rare. There is only one case described by Klein et al in 2007, who reported a papillary cystoadenoma of the lung in a patient with VHL1. Neuroendocrine tumors in patients with VHL have been classically described in the gastrointestinal tract, but have never been reported in the lung. This is a unique case of a patient with VHL who developed hemoptysis due to carcinoid tumor arising from the lung.
CONCLUSIONS: This is the first report of a patient with VHL who developed a primary carcinoid tumor arising from the lung. If an endobronchial lesion is found in a patient with VHL a cautious approach is warranted, because of the potential risk of bleeding complications of vascular tumors.
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