Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.
Human diseases in ICD-11 classification [BR:br08403]
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant mesenchymal neoplasms
2B50 Chondrosarcoma, primary site
H00053 Extraskeletal myxoid chondrosarcoma