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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’.

Authors: Naohiro Makise, Jason Lin, Hajime Kageyama, Hideyuki Kinoshita, Hiroto Kamoda, Yoko Hagiwara, Mariko Oikawa, Takahiro Sugiyama, Hidetada Kawana, Akinobu Araki, Tsukasa Yonemoto, Masahito Kawazu, Makiko Itami

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