Šekoranja Daja, Boštjančič Emanuela, Salapura Vladka, Mavčič Blaž, Pižem Jože
Faculty of Medicine, Institute of Pathology, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
Faculty of Medicine, Institute of Pathology, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
Cancer Genet. 2018 Dec;228-229:12-16. doi: 10.1016/j.cancergen.2018.07.001. Epub 2018 Jul 20.
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.
动脉瘤样骨囊肿（ABC）是一种良性但具有局部侵袭性的肿瘤，主要发生于儿童，具有特征性的USP6基因重排，这使其有别于继发性ABC和其他原发性骨肿瘤。随着下一代测序（NGS）技术的出现，在ABC中已鉴定出几种此前未知的USP6融合伴侣。因此，我们报告一例18岁男性，其左股骨干骺端有一个实性骨膜下原发性ABC。使用基于NGS的检测方法，我们鉴定出SPARC-USP6融合，这在ABC中此前尚未有描述。包括我们的病例在内，目前已知的原发性ABC中USP6融合伴侣列表包括：CDH11、CNBP、COL1A1、CTNNB1、EIF1、FOSL2、OMD、PAFAH1B1、RUNX2、SEC31A、SPARC、STAT3和THRAP3。
