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NF1
96%
452/471
EWS
0%
2/471
EXT1
1%
7/471
P53
Rb
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The patient has a plexiform neurofibroma and multiple café-au-lait spots, all characteristic of von Recklinghausen’s neurofibromatosis. This disease has been linked to a defect of the gene NF1 on chromosome 17. EWS is one of the genes associated with the 11;22 translocation found in Ewing’s sarcoma and several other sarcomas. EXT1 is the most common gene affecting patients with multiple hereditary exostosis. P53 and Rb are tumor suppressor genes whose inactivation has been associated with tumors in conditions such as Li-Fraumeni and retinoblastoma, respectively.
4.1
(8)
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