INTRODUCTION: This case is a rare intrathoracic presentation of desmoid tumor. We report a patient who had a large lung tumor extending from the apex of the thorax into the neck.
CASE PRESENTATION: A 42 yr old male comes for the evaluation of right neck mass which was present for approximately one year, progressively getting enlarged in the preceeding three 3 months. He was complaining of pressure-like feeling, tingling and numbness in right arm. He denied dysphagia, fever, night sweats or dysphonia. He was actively smoking and working as a welder. On physical examination, he was saturating 95% on room air. He has right supraclavicular mass, which was non-tender and immobile. The chest roentgenogram (CXR) showed a large well circumscribed right upper lobe mass deviating the trachea towards left side and extending into right lower neck. Size of the tumor was approximately 18 cm × 14cm. Computed tomography (CT) of the chest and neck showed a large solid mass lesion in right apex, involving the thoracic inlet, superior mediastinum and extending into lower neck to the level of thyroid cartilage. There was evidence of bony destruction with intraspinal extention at the level of the T1 (thoracic) and T2 vertebra and first rib. Right paratracheal and right hilar lymphadenopathy were present. No evidence of metastatic lesions were found in CT abdomen and pelvis. Patient underwent video assisted thoracoscopic surgery with partial resection and debulking of right upper lobe mass. The mass was tan in color and densely fibrotic. Right atrium and pericardium was adherent to the mass. Pathology showed aggressive extra-abdominal fibromatosis. Post-operatively, the patient developed acute respiratory distress syndrome and was placed on prone positioning and high frequency oscillation as he failed conventional ventilation. Eventually he developed sepsis and multiorgan failure, had tracheostomy for ventilator dependency. During the hospital course, he clinically improved and had reversal of tracheostomy.
DISCUSSIONS: Desmoid tumors were first described by John Macfarlene in 1832. They are benign connective tissue tumors, defined as a pseudoencapsulated infiltrative growth of well-differentiated collagenous fibroblasts and fibrocytes arising either in fascia or musculoaponeurotic structures. These tumors are more frequent in females with age ranging from 18 to 30 years. Desmoid tumors are rare, with an incidence of less than five cases per million, comprising of 0.03% of all the neoplasms. They rarely metastasize. Malignant transformtion is rare. They are aggressive locally and can infiltrate into surrounding structures. Extra-abdominal desmoid tumors occur in extremities, head and neck and chest wall with the commonest location being the shoulder girdle. They present as solitary, painless masses that are deeply situated. The average size is 5–10cm. Pain may be a presenting symptom when the tumor has invaded an adjacent nerve. Other neurological symptoms may also be present including numbness, hyperesthesia, and weakness.Etiological factors include abnormal scarring secondary to previous surgery or trauma, a genetic predisposition, abnormalities in connective tissue synthesis. Imaging investigations include CXR, CT, MRI to characterize the tumor. Surgical biopsy and histology are needed to confirm the diagnosis.Complete resection of the tumor with clear surgical margins is the best treatment modality. Desmoid tumors are likely to recur after surgical resection in 40%–70% of cases. Other treatment modalities include radiation therapy, chemotherapy, c-AMP modulation, estrogen and prostaglandin inhibition. Colchicine has been reported to reduce the size of the tumor. Prognosis is poor if the age group is between 18 to 30 yrs, multiple recurrences, margins of excision were not clear and adjuvant radiation therapy is not administered.
CONCLUSION: Eventhough intrathoracic desmoid tumors are rare, we should consider this in the differential diagnosis of a solitary tumor.
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