Yasumasa Nakata, Fumihiko Ouchi, Kota Yoshifuji, Daichi Sadato, Kouhei Yamamoto, Yuriko Kawase, Takehiko Mori
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Abstract
The incidence of central nervous system (CNS) involvement in mycosis fungoides (MF) is low. Here, we report a case of CNS involvement 3 years after MF diagnosis, comparing genetic alterations identified by amplicon-based targeted sequencing between a primary skin sample and a brain tissue sample. TNFAIP3 mutation, MYC gain, CDKN2A/B loss, and SOCS1 loss were concordantly detected, while MYC mutation was only found in the brain sample. This is the first report of a comprehensive genetic analysis of CNS involvement in MF, providing novel insights into genetic factors potentially associated with CNS involvement.
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