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

Irini D. Batsis, Rachel Offenbacher, Brad Rybinski, Bruce Pawel, Daniel A. Weiser

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
Pages (from-to)434-441
Number of pages8
JournalPediatric Hematology and Oncology
Volume35
Issue number7-8
DOIs
StatePublished - Nov 17 2018

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Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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