Largest recorded non-invasive true intrathoracic desmoid tumour

Abstract

Desmoid tumours are rare monoclonal fibroblastic proliferations arising in the soft tissue and accounting for less than 0.03% of all neoplasms. These benign neoplasms are locally invasive and tend to recur, but do not metastasise. Desmoid tumours generally occur between the ages of 15 and 60 years. [1,2] Two different types have been described: a sporadic type, and a familial type in which the tumours are usually intraabdominal. [2,3] The chest wall is the most common site for extraabdominal desmoid tumours, with true intrathoracic tumours being extremely rare. Patients with intrathoracic desmoid tumours are usually asymptomatic and generally present when the lesion is large enough to cause compression of vital structures or erosion into adjacent bone or joints. These tumours resemble sarcomas both clinically and histologically. Although not specific, beta-catenin and mutations thereof are highly sensitive for sporadic desmoid tumours. [3] Firstline therapy is complete surgical resection if this will not result in unacceptable morbidity.

The surgery of a giant chest wall tumor with intrathoracic extension

“…Common extra-abdominal sites of desmoid tumors reported in the literature include the upper and lower extremities, the head and neck, and the chest wall [ 2 , 5 ], with our case being an example of an extra-abdominal type involving the chest wall and the intrathoracic cavity, as shown in Figure 3 . The chest wall is the most common site of extra-abdominal fibromatosis with a reported incidence of 20%, but reports of true intrathoracic aggressive fibromatosis as in our case are very rare [ 3 , 5 ]. Intrathoracic desmoid tumors originate from the pleura or mediastinum and are mainly located within the thoracic skeleton with some chest wall involvement [ 1 , 3 ].…”

“…Our case was consistent with aggressive fibromatosis as was reported by the pathologist. Desmoid tumors generally occur within the ages of 15–60 years [ 3 ], although a similar chest wall tumor was reported by Govindarajan in a 7-year-old boy [ 7 ]. They have been found to have a predilection for females, with a 3 : 1 female-to-male ratio [ 1 , 2 ].…”

“…Since their initial description in 1832 by John MacFarlane [ 5 ], various terminologies – such as desmoid fibroma, desmoma, desmoplastic fibroma, aponeurosis fibromatosis, aggressive fibromatosis or sarcoma of low-grade malignancy – have been used to describe it [ 2 , 5 ]. Aggressive fibromatosis or sarcoma of low-grade malignancy is the currently preferred terminology due to its locally infiltrative potential and risk of recurrence despite radical excision [ 3 – 5 ]. However, their inability to metastasize distinguishes them from fibrosarcomas [ 3 , 6 ].…”

“…Aggressive fibromatosis or sarcoma of low-grade malignancy is the currently preferred terminology due to its locally infiltrative potential and risk of recurrence despite radical excision [ 3 – 5 ]. However, their inability to metastasize distinguishes them from fibrosarcomas [ 3 , 6 ]. Our case was consistent with aggressive fibromatosis as was reported by the pathologist.…”

“…This, along with their regularity among women of childbearing age increased the incidence with oral contraceptive use and their regression beyond menopause or with use of anti-estrogens has led to the suggestion that sex hormones may be involved in the pathogenesis of desmoid tumors [ 1 ]. Other risk factors reported include genetic predisposition or history of previous trauma [ 2 , 3 , 5 ]. Our patient was a 35-year-old man, consistent with the common age group at increased risk.…”