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A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene.
Izawa N, Matsumoto S, Manabe J, Tanizawa T, Hoshi M, Shigemitsu T, Machinami R, Kanda H, Takeuchi K, Miki Y, Arai M, Shirahama S, Kawaguchi N. Izawa N, et al. Among authors: machinami r. Int J Clin Oncol. 2008 Feb;13(1):78-82. doi: 10.1007/s10147-007-0692-8. Epub 2008 Feb 29. Int J Clin Oncol. 2008. PMID: 18307025
Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene.
Sugiura Y, Kanda H, Motoi N, Nomura K, Inamura K, Okada E, Matsumoto H, Shimoji T, Matsumoto S, Nakayama J, Takazawa Y, Ishikawa Y, Machinami R. Sugiura Y, et al. Among authors: machinami r. Pathol Res Pract. 2018 Feb;214(2):318-324. doi: 10.1016/j.prp.2017.10.018. Epub 2017 Nov 12. Pathol Res Pract. 2018. PMID: 29268950
151 results