Nakata Yasumasa, Ouchi Fumihiko, Yoshifuji Kota, Sadato Daichi, Yamamoto Kouhei, Kawase Yuriko, Mori Takehiko
Department of Hematology Institute of Science Tokyo Tokyo Japan.
Clinical Research Support Center Tokyo Metropolitan Komagome Hospital Tokyo Japan.
EJHaem. 2025 Aug 1;6(4):e70118. doi: 10.1002/jha2.70118. eCollection 2025 Aug.
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. mutation, gain, / loss, and loss were concordantly detected, while 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.
蕈样肉芽肿（MF）累及中枢神经系统（CNS）的发生率较低。在此，我们报告1例MF诊断3年后出现CNS受累的病例，比较了基于扩增子的靶向测序在原发性皮肤样本和脑组织样本中鉴定出的基因改变。一致检测到了 突变、增益、/缺失和缺失，而 突变仅在脑样本中发现。这是关于MF累及CNS的全面基因分析的首例报告，为可能与CNS受累相关的遗传因素提供了新见解。
