Nanopore DNA sequencing detected chromothripsis-induced PAFAH1B1::USP6 rearrangement in periosteal solid aneurysmal bone cyst initially diagnosed as osteosarcoma

A bone mass was initially diagnosed as a high-grade osteosarcoma. As part of a retrospective analysis, the authors employed nanopore technology and uncovered a large chromosomal rearrangement and a fusion gene. After further validation with routine techniques and methylation analysis, the bone mass was diagnosed as an aneurysmal bone cyst, a benign bone tumour. This key genetic insight led the authors to suggest the potential ‘utility of nanopore DNA sequencing for soft tissue and bone tumour diagnosis’.