Primary extraskeletal myxoid chondrosarcoma of pulmonary arteries: a rare mimic of acute pulmonary thromboembolism

Abstract

Primary extraskeletal myxoid chondrosarcoma of the pulmonary arteries is a very rare entity. Multimodality imaging reports on this entity are few. Myxoid chondrosarcoma is characterized by chondroid and neurogenic differentiation in extraskeletal locations. These tumours represent fewer than 2.5% of all soft-tissue sarcomas, and are most commonly found in the lower extremities, limb girdles, distal extremities and trunk. We report an unusual case of a 31-year old man with histopathologically proven extraskeletal myxoid chondrosarcoma of the pulmonary arteries mimicking acute pulmonary thromboembolism.

Pulmonary extraskeletal myxoid chondrosarcoma: A case report and literature review

“…The differential diagnosis for EMC include myoepithelial carcinoma of soft tissue (MEC), myxoid type of malignant fibrous histiocytoma, myxoid liposarcoma, mixed tumour of soft tissue, nodular fasciitis, ganglion cyst, chordoma, myxoid peripheral nerve sheath tumour, and when arising from the lungs primary pulmonary myxoid sarcoma (PPMS) [1], [11], [12]. The histological features of EMC partially overlap with PPMS and they occasionally share focal EMA and S-100 expresion [11].…”

“…PPMS is characterized by the presence of the chromosomal translocation t(2;22)(q33;q12), which encodes the oncogenic fusion gene EWSR1-CREB1, while EMC is known to express the chimeric gene EWSR1-NR4A3 [11]. MEC and EMC arise predominantly in the proximal lower extremity and it́s difficult to morphologically distinguish them since they both exhibit features typically seen in myoepithelial tumors [12]. MEĆs peak incidence is the fourth decade of life, while EMC frequently arises in the sixth decade [12].…”

“…MEC and EMC arise predominantly in the proximal lower extremity and it́s difficult to morphologically distinguish them since they both exhibit features typically seen in myoepithelial tumors [12]. MEĆs peak incidence is the fourth decade of life, while EMC frequently arises in the sixth decade [12]. MEC are normally located more superficially than EMC and demonstrate a more aggressive behaviour [12].…”

“…MEĆs peak incidence is the fourth decade of life, while EMC frequently arises in the sixth decade [12]. MEC are normally located more superficially than EMC and demonstrate a more aggressive behaviour [12].…”

Intraluminal EWSR1–CREB1 gene rearranged, low‐grade myxoid sarcoma of the pulmonary artery resembling extraskeletal myxoid chondrosarcoma (EMC)

“…In this case the EWSR1 gene FISH was negative, and no further molecular studies were performed. Yet another tumour reported as an EMC of PA was obviously incorrectly diagnosed as such, as no molecular studies were performed and the microphotographs illustrate hyaline chondrogenic neoplasia, immunohistochemically strongly expressing S100 protein, findings excluding the diagnosis of EMC.…”