Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB

The t(5;17)(q33;p13) rearrangement has been observed as sole cytogenetic abnormality in one case of chronic myelomonocytic leukemia, a soft-tissue aneurysmal bone cyst, and a case of myeloid and lymphoid neoplasms (MLNs) with eosinophilia. The t(5;17)(q33;p13) generates a fusion gene, located on the rearranged chromosome 5, comprised of the 5' portion of RABEP1 (encoding the coiled-coil domain) and the 3' portion of PDGFRB (encoding the intracellular kinase domain). Expression of the resulting fusion protein has been demonstrated to cause myeloproliferative disease in mice. t(5;17)(q33;p13) in G-banded chromosomes. Clinics and pathology Disease Aneurysmal bone cyst (primary) Note t(5;17)(q33;p13) RABEP1/PDGFRB in hematological malignancies has also been described. Epidemiology One case of aneurysmal bone cyst with t(5;17)(q33;p13) to date: a white female patient who was 10 years old at diagnosis (Ellison et al., 2007). Clinics Patient developed limp and contracture after a fall down stairs. MRI revealed a cystic mass soft-tissue mass in posterior medial aspect of the left thigh (Ellison et al., 2007). Cytology Fibrous tissue and multinucleated giant cells observed on frozen section (Ellison et al., 2007). Pathology Mass of fibrous tissue with areas of bone rimmed with bony trabeculae (Ellison et al., 2007). Treatment Resection Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB Schroeder MC, Shetty S Atlas Genet Cytogenet Oncol Haematol. 2016; 20(8) 466 PDGFRB transcripts, from NCBI Gene report for Gene ID: 5159, updated 12-May-2015. RABEP1 transcripts, from NCBI Gene report for Gene ID: 9135, updated 4-May-2015.