蕈样真菌病累及中枢神经系统的综合遗传学分析:1例报告

IF 1.2
EJHaem Pub Date : 2025-08-01 DOI:10.1002/jha2.70118
Yasumasa Nakata, Fumihiko Ouchi, Kota Yoshifuji, Daichi Sadato, Kouhei Yamamoto, Yuriko Kawase, Takehiko Mori
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引用次数: 0

摘要

蕈样真菌病(MF)中中枢神经系统(CNS)受累的发生率较低。在这里,我们报告了一例MF诊断后3年中枢神经系统受损伤的病例,比较了原始皮肤样本和脑组织样本之间通过基于扩增子的靶向测序鉴定的遗传改变。TNFAIP3突变、MYC增加、CDKN2A/B缺失和SOCS1缺失是一致的,而MYC突变仅在脑样本中发现。这是对MF中中枢神经系统参与的全面遗传分析的第一份报告,为潜在与中枢神经系统参与相关的遗传因素提供了新的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Comprehensive Genetic Analysis of Central Nervous System Involvement in Mycosis Fungoides: A Case Report

Comprehensive Genetic Analysis of Central Nervous System Involvement in Mycosis Fungoides: A Case Report

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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