Systemic manifestations of extraskeletal myxoid chondrosarcoma associated with a novel t(2;22)(q34;q12) EWS translocation in a child and a review of the literature

Abstract

Extraskeletal myxoid chondrosarcoma (EMC), a soft-tissue sarcoma with unique clinicopathologic features and characteristic chromosomal translocations, is extremely rare in the pediatric population. We, herein, present the case of a 7-year-old boy with profound microcytic hypochromic anemia, poor weight gain and a mid-thoracic paraspinal mass that was identified as EMC. Systemic manifestations of localized, nonmetastatic EMC have never been described in the pediatric population, yet our patient’s anemia and poor weight gain resolved after successful surgical resection of the tumor, suggesting that localized EMC can present with systemic manifestations. The tumor also contained a novel t(2;22)(q34;q12) translocation involving the EWSR1 gene, which is consistent with additional reports suggesting that a growing list of translocations can drive formation of, and potential new management strategies for, EMC.

Keywords:

• Extraskeletal myxoid chondrosarcoma
• novel translocation
• pediatric sarcoma
• systemic manifestations of cancer

Acknowledgment

The authors thank Dr Lisa States (Children’s Hospital of Philadelphia) for providing radiologic images and Dr Sharon Weiss (Emory University) for pathology consultation.

Conflict of interest disclosure

The authors wish to report that there are no conflicts of interest associated with this publication.