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ASPL
10%
63/640
ATF1
65/640
EWS
2%
10/640
PAX3
17%
106/640
USP6
61%
392/640
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Aneurysmal bone cyst was recently shown definitively to be a neoplasm driven by upregulation of the ubiquitin-specific protease USP6 (Tre2) gene on 17p13 when combined by translocation with a promoter pairing. The most commonly described translocation is t(16;17)(q22;p13) which results in juxtaposition of the promoter region CDH11 on 16q22. In the past, all aneurysmal bone cysts were thought to be reactive in nature. Whereas primary aneurysmal bone cysts are now known to be neoplasms, secondary aneurysmal bone cysts are not because no translocation has been identified in them. ASPL is involved in alveolar soft part sarcoma (tX;17)(TFE3-ASPL). ATF1 is involved in clear cell chondrosarcoma. EWS is a gene on chromosome 22 involved in several relevant musculoskeletal oncology conditions, including Ewing's sarcoma (t11;22)(EWS-FLI1), desmoplastic small round cell tumor (t11;22)(EWS-WT1), extraskeletal myxoid chondrosarcoma (t9;22)(EWS-CHN), and clear cell chondrosarcoma (t12;22)(EWS-ATF1). PAX3 is involved in alveolar rhabdomyosarcoma (t2;13)(PAX3-FKHR).
1.6
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