Definition: Aneurysmal bone cyst (ABC) is a locally aggressive osseous lesion that typically occurs during the first two decades of life.
Variants
soft tissue aneurysmal bone cyst (extraosseous aneurysmal bone cyst)
solid aneurysmal bone cyst
Associations
Differential diagnosis
osseous giant cell tumor
giant cell reparative granuloma (giant cell reaction)
brown tumor of hyperparathyroidism
simple bone cyst (solitary bone cyst)
telangiectatic osteosarcoma
well-differentiated osteosarcoma
Cytogenetics
17p13 rearrangements (USP6)
- translocation t(1;17) creating TRAP150/USP6 fusion
- translocation t(3;17) creating ZNF9/USP6 fusion
- t(5;17)(q33;p13) (17378626)
- translocation t(6:17)(p21;p13) (11764383)
- translocation t(9;17) creating OMD/USP6 fusion
- translocation t(16;17)(q22;p13) creating CDH11/USP6 fusion
- translocation t(17;17) creating COL1A1/USP6 fusion
Molecular biology
variant translocations upregulate USP6 transcription by promoter swapping with the genes ZNF9, COL1A1, TRAP150 and OMD (15735689)
- translocation t(1;17) creating TRAP150/USP6 fusion
- translocation t(3;17) creating ZNF9/USP6 fusion
- translocation t(6:17)(p21;p13) (11764383)
- translocation t(9;17) creating OMD/USP6 fusion
- translocation t(16;17)(q22;p13) creating CDH11/USP6 fusion
- translocation t(17;17) creating COL1A1/USP6 fusion
fusion gene in which the osteoblast cadherin 11 gene (CDH11) promoter region on 16q22 is juxtaposed to the entire ubiquitin-specific protease USP6 (Tre2) coding sequence on 17p13 (15026324, 15509545)
References