TY - JOUR
T1 - 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
AU - Batsis, Irini D.
AU - Offenbacher, Rachel
AU - Rybinski, Brad
AU - Pawel, Bruce
AU - Weiser, Daniel A.
N1 - Publisher Copyright:
© 2019, © 2019 Taylor & Francis Group, LLC.
PY - 2018/11/17
Y1 - 2018/11/17
N2 - 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.
AB - 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.
KW - Extraskeletal myxoid chondrosarcoma
KW - novel translocation
KW - pediatric sarcoma
KW - systemic manifestations of cancer
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U2 - 10.1080/08880018.2018.1557766
DO - 10.1080/08880018.2018.1557766
M3 - Review article
C2 - 30776935
AN - SCOPUS:85063546925
SN - 0888-0018
VL - 35
SP - 434
EP - 441
JO - Pediatric Hematology and Oncology
JF - Pediatric Hematology and Oncology
IS - 7-8
ER -