Primary cutaneous lymphoma is a microsatellite stable tumor: An analysis of microsatellite instability.

Drug discoveries & therapeutics Pub Date : 2025-07-04 Epub Date: 2025-06-25 DOI:10.5582/ddt.2025.01042
Saki Maeda-Otsuka, Myangat Tselmeg Mijiddorj, Ikko Kajihara, Soichiro Sawamura, Katsunari Makino, Shinichi Masuguchi, Satoshi Fukushima
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Abstract

A deficiency in DNA mismatch repair (MMR) leads to microsatellite instability (MSI), which is associated with a favorable response to immune checkpoint inhibitors (ICIs), and the Promega MSI Analysis System is approved as a companion diagnostic tool for it. In this study, we investigated the MMR status in patients with primary cutaneous lymphoma (PCL) diagnosed at our hospital. MSI was found in 1 of the 29 patients (3.4%), an 87-year-old man diagnosed with subcutaneous panniculitis-like T-cell lymphoma. Only the NR-21 marker was present in both tumor and normal tissue, indicating that the MMR status was MSI-low, and he had a germline mutation of SLC7A8. Our study showed that most PCLs are microsatellite stable tumors. This study is a single-center small-sample investigation and requires validation in larger cohorts.

原发性皮肤淋巴瘤是一种微卫星稳定性肿瘤:微卫星不稳定性分析。
DNA错配修复(MMR)缺陷导致微卫星不稳定性(MSI),这与免疫检查点抑制剂(ICIs)的有利反应有关,Promega MSI分析系统被批准作为其配套诊断工具。在本研究中,我们调查了在我院诊断的原发性皮肤淋巴瘤(PCL)患者的MMR状态。29例患者中有1例(3.4%)发现MSI,这是一名87岁的男性,被诊断为皮下泛膜炎样t细胞淋巴瘤。肿瘤和正常组织中均仅有NR-21标记物存在,说明MMR状态为MSI-low,且患者存在SLC7A8种系突变。我们的研究表明,大多数pcl是微卫星稳定肿瘤。本研究是单中心小样本调查,需要在更大的队列中进行验证。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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