A 46-year-old male patient with no known comorbidities presented with complaints of hoarseness of voice and right sided chest pain for a duration of 1 month. He had developed dyspnoea on exertion in the last 2 weeks. Blood investigations were found to be normal.
Chest radiograph frontal projection shows an opacity in the right hemithorax with a shift of mediastinum to the left. Lateral chest radiograph shows the opacity in the posterior aspect of hemithorax. CT images show a large soft tissue density lesion which is broad-based to the costal pleura in the posterior aspect of the right hemithorax and the adjacent mediastinal pleura with an attenuation similar to muscle and a mild homogenous enhancement. The lesion showed a displacement of the mediastinum to the left with compression of the superior vena cava. No evidence of any bony erosions or widening of neural foramen was noted.
CT guided biopsy was done from the lesion, following which surgical resection was done. A large tumour that weighed over 2 kg was operated out from our patient which was reported as a spindle cell neoplasm with morphology and immune profile consistent with a desmoid tumour on histopathology.
Desmoid tumours, also referred to as aggressive fibromatosis are locally aggressive tumours with potential for local recurrence and adjacent organ involvement (1). They are rare mesenchymal neoplasms with a female predilection and a peak incidence in the third and fourth decades (2). There is a strong association between desmoid tumours and familial adenomatous polyposis (3). Pathologically they consist of fascicles of spindle cells and fibroblasts in dense collagen stroma (2).
Desmoid tumours are commonly intraabdominal but may also be extra-abdominal. Extra abdominal desmoids have been commonly reported from the shoulder and upper extremity, the gluteal region, chest wall, back and head and neck (2). Pleural desmoid tumours are extremely rare (4). Due to the locally aggressive nature, adjacent organ involvement is often responsible for the clinical presentation. Hence intrathoracic desmoid tumours tend to show features like cardiac arrhythmias, superior vena cava syndrome, cardiac failure and pulmonary manifestations (5).
On ultrasonography, desmoid tumours appear hypoechoic with variable vascularity. CT shows a soft tissue density lesion with attenuation similar to that of muscle. Margins may be indistinct and enhancement varies from mild to moderate. Mesenteric desmoid may show radiating spicules extending into the adjacent fat (6). MRI shows a heterogeneous pattern of lesion which appears isointense or hyperintense to skeletal muscle on T2WI. With dense collagen and decreased cellularity, signal intensity on T2 decreases while higher content of spindle cells show increased T2 signal intensity (7). Avid enhancement may be seen in highly cellular regions. Desmoid fibroids are not very metabolically active on PET imaging.
Definitive diagnosis is given by a histopathological examination and immunohistochemistry. Spindle cells stain positive for beta-catenin (8).
The main goal of treatment is local control and surgical resection, if possible. Recurrence is seen in 20 – 68% of the patients with a higher potential in syndromic patients (9). Systemic therapy can be used as an alternative or as neoadjuvant therapy. Despite the rarity of disease, it is important not to overlook desmoid tumours while considering the differentials for pleural and mediastinal tumours. An early diagnosis and treatment can prevent life-threatening complications of this locally aggressive neoplasm.
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