Analysis of two cases with bronchopulmonary neurofibromatosis
© Yuan et al.; licensee BioMed Central Ltd. 2012
Received: 5 July 2012
Accepted: 5 July 2012
Published: 18 July 2012
Neurogenic tumor of lung is very rare. Only few cases have been reported in the literature. We present here two cases of bronchopulmonary neurofibromatosis in two adults. In both cases, attempts at imaging failed to diagnose the case, and it was the histological study that ensured the diagnosis of neurofibromatosis. Biopsy specimens showed bundles of spindle-shaped cells mixed with collagen, and on immunohistochemistry some cells were positive for S-100 protein.
KeywordsEndobronchial Neurofibromatosis Pleural
Neoplasias today represent the second main cause of death throughout the world, and tumors of the respiratory system occupy first position as a cause of mortality both as regards males and females . Among these, chest primary neurogenic tumors have predilection in the back mediastina and costovertebral angle, but tumors arising from the tracheobronchial tree or lung are very rare. Neurofibromatosis is a benign tumor which consists of neurilemma cells and fibroblasts. It can develop anywhere on the peripheral nerve, and can be seen most frequently on the trunk, lower extremity, head, and upper extremity (in order of occurrence), but less in the mediastinum, perineum and so on; however, respiratory neurofibromatosis is very uncommon . In the case of lung involvement it can cause obstruction, chest deformities, airway and parenchymal neurogenic tumors, pulmonary fibrosis, cystic pulmonary diseases, primary pulmonary hypertension, central hypoventilation and diaphragm paralysis and so on . The initial symptoms include cough, wheezing, and dyspnea, which are related to airway obstruction. However the majority of patients have normal chest x-ray on initial presentation . Patients with tracheobronchial tumors may be asymptomatic for years. Chest roentgenography may reveal infiltration and atelectasis, though the majority of patients have normal chest films on initial presentation. Delayed diagnosis is not unusual, as overlying soft tissue obscures the trachea in posteroanterior radiography . Surgical resection of the lesions can often be technically difficult, and sometimes surgical resection or biopsy can result in motor or sensory loss. There is also the possibility that surgical trauma can act as a stimulus for recurrence and malignant transformation .
The first patient’s main manifestations were repeated cough and expectoration, which were relieved after anti-inflammatory treatment; so the clinic physician only paid attention to his pneumonia, but never deeply analyzed the reason why he got pneumonia repeatedly. But the patient had repeated pneumonia, and the chest X-ray could be normal after anti-inflammatory treatment. This is the reason why the real etiology was misdiagnosed for 5 years. If he had been diagnosed when the tumor was small, it would have been possible to resect the tumor under the bronchoscope, e.g. by transbronchial electrical snaring and Nd-YAG laser abrasion , which would have avoided tissue damage caused by open thoracotomy and reduced the patient’s financial burden.
Pleural neurofibromatosis initiates from the intercostal nerve, manifesting as chest distress, and dyspnea on exertion. Langman and coll.  reported two cases of pleural neurofibroma, who also had shoulder pain, and did not have any chest related symptoms. Our second patient’s symptoms were cough, expectoration, bloody sputum and dyspnea on exertion. The dyspnea on exertion may have been due to pleural effusion. The patient was not given a chest CT until the bloody sputum occurred. Chest CT showed a lesion in the right lung and right pleural effusion. Lung cancer or the pleural tumor were first considered. Pleural neurofibromas are characterised by wavy elongated cells and associated strands of collagen, separated by mucoid material. Histologically they are characterised by spindled, wavy dispersed cells separated by a collagenous and myxoidstroma. Mast cells are frequently present and are a helpful diagnostic feature. In our cases, CT-guided percutaneous transthoracic aspiration biopsy of lung showed bundles of spindle-shaped cells mixed with collagen. On immunohistochemistry some cells were positive for S-100 protein, proving the presence of pleural neurofibroma.
The above two cases showed that all patients affected by pneumonia - especially a local repeated pneumonia - should undergo essential auxiliary examinations. Chest lamellar CT is helpful to find small lesions in airway or lesions in the lung; bronchoscopy is not only used to explore the airway, but also to biopsy in order to understand the etiology. After diagnosis of the neurofibromas, the treatment depends on the size and the location of the tumors, and should be conservative. Some small tumors can be removed endoscopically with or without laser. However, if the tumors invade adjacent tissue, surgery should be carried out.
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
The authors thank Prof. Qi-huaGu for providing the history of the two cases, Prof. Yongbin-Hu for providing the session, and Ji Yao for providing the CT imaging.
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