Author/Editor | Šekoranja, Daja; Boštjančič, Emanuela; Salapura, Vladka; Mavčič, Blaž; Pižem, Jože | |
Title | Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing | |
Type | članek | |
Vol. and No. | , št. Vol. 228/229 | |
Publication year | 2018 | |
Volume | str. 12-16 | |
ISSN | 2210-7762 - Cancer genetics | |
Language | eng | |
Abstract | Aneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors. With the advent of next-generation sequencing (NGS) technology, several hitherto unknown USP6 fusion partners have been identified in ABC. Accordingly, we present a case of an 18-year-old male with a solid sub-periosteal primary ABC in the diaphysis of the left femur. Using an NGS-based assay, we identified SPARC-USP6 fusion, which has not previously been described in ABC. Including our case, the list of currently known USP6 fusion partners in primary ABC include: CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3 and THRAP3. | |
Keywords | aneurysmal bone cyst gene fusion next-generation sequencing aneurizmalna kostna cista fuzija genov zaporedje naslednje generacije |