Abstract
Ewing sarcoma (ES) is the second most common primary bone malignancy in children and is typically characterized by a translocation involving the EWS gene on chromosome 22 and a member of the ETS family of genes: FLI1 (90%), ERG1 (5%), ETV1 (1%), ETV4 (1%), and FEV (1%). We identified three new cases of t(7;22) (p22;q12) (EWS-ETV1) ES and a literature search revealed an additional six cases. In comparison to conventional ES with t(11;22) (q24;q12) (EWS-FLI1), the t(7;22) ES variant has a higher propensity for females and children in a younger age group and it occurs more commonly in extraosseous locations.
MeSH terms
-
Abnormal Karyotype
-
Biomarkers, Tumor / metabolism
-
Bone Neoplasms / genetics*
-
Bone Neoplasms / pathology
-
Bone Neoplasms / therapy
-
Child
-
Chromosomes, Human, Pair 22 / genetics*
-
Chromosomes, Human, Pair 7 / genetics*
-
Combined Modality Therapy
-
DNA, Neoplasm / analysis
-
Disease-Free Survival
-
Fatal Outcome
-
Female
-
Humans
-
In Situ Hybridization, Fluorescence
-
Infant
-
Oncogene Proteins, Fusion / genetics
-
Oncogene Proteins, Fusion / metabolism
-
Sarcoma, Ewing / genetics*
-
Sarcoma, Ewing / pathology
-
Sarcoma, Ewing / therapy
-
Translocation, Genetic*
Substances
-
Biomarkers, Tumor
-
DNA, Neoplasm
-
EWS-ETV1 fusion protein, human
-
Oncogene Proteins, Fusion