Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant soft tissue tumor derived from mesenchymal chondrocytic cells. We recently encountered a patient with hemoptysis, who was subsequently diagnosed with primary EMC of lung.
A 24-year old man was admitted to our facility complaining of intermittent hemoptysis for one year, with progression over the previous two weeks. His past medical history and review of systems were unremarkable. He was employed in construction, and recently traveled to Cancun. On presentation his physical exam was normal. Routine laboratories included a hemoglobin of 9.3 g/dl. Chest CT scanning showed a hazy, right lung infiltrate, and mediastinal adenopathy. Fiberoptic bronchoscopy was performed revealing thick bluish, non-purulent mucous plugs in the posterior segment of the right upper lobe. Microbiology studies, including stains for acid-fast bacillus were negative. Transbronchial biopsies of the right upper lobe were non-diagnostic.The patient improved on antibiotics and was discharged home. However, 11 days later he returned with recurrent bleeding, and a hemoglobin of 6.7 g/dl. Because of ongoing hemoptysis, a right upper lobe lobectomy was performed. Cytogenetic analysis of the tissue was consistent with an EMC. Additional radiographic evaluation, including CT, PET and bone scans were negative for a primary location of the malignancy.
Extraskeletal myxoid chondrosarcoma, first described as a distinct clinicopathologic entity in 1972, is a rare, intermediate grade, malignant soft tissue tumor. It is more frequent in males than females (2:1) and usually presents in middle aged and elderly patients. A series of 117 cases found a predilection for the proximal extremities or limb girdles in 80% of cases, where it often presents as a palpable mass (1). However, EMC has also been described to present in other areas of the body including the nasopharynx, orbits and chest wall. To our knowledge, this tumor has never been reported to present initially in the lung. The diagnosis of an EMC can usually be made by fine needle aspirate and subsequent cytogenetic analysis, demonstrating the tumor specific t(9;22)(q22;q12) translocation (2). In our case the cytogenetic analysis revealed this characteristic finding. Treatment of EMC includes excision with wide surgical margins and occasionally adjunct radiotherapy (1). Chemotherapy does not appear to be of benefit, although there is an isolated report of metastatic pulmonary EMC responding to interferon alfa-2b. Despite tumor resection there is a high incidence of local recurrence (48%) and metastatic disease (46%) including to the lung. Reported survival at 5, 10 and 15 years is 90 %, 70% and 60% respectively (1).
We believe this is the first reported case of EMC presenting as a lung primary. Despite an extensive search for an alternate primary location, none was identified. Other unusual features include this patient’s young age and history of hemoptysis. Although rare, EMC should be considered in those with similar presentations.
Carlos Vassaux, None.