RNF43 p.G659fs 通过 PI3K/AKT/mTOR 信号通路和 HLA-E 上调导致 MSI-high 结直肠癌中 NK 细胞功能障碍
RNF43 p.G659fs leads to natural killer cell dysfunction in MSI-high colorectal cancer through PI3K/AKT/mTOR signaling and HLA-E up-regulation.
CELL INTELLIGENCE · 肿瘤细胞治疗研究
肿瘤细胞治疗研究
结直肠腺癌中 MMR 表达异质性的患病率及类型：治疗意义与报告
英文原题：Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting.
查看英文原题
Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting.
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中文摘要
错配修复（MMR）免疫组化（IHC）评估已进入病理常规实践，作为识别 MMR 缺陷（MMRd）/微卫星不稳定（MSI）结直肠癌（CRC）患者的一线筛查方法，其误诊可能显著影响 CRC 患者诊疗的个体化。为确定真实世界实践中 MMR 蛋白瘤内异质性的患病率，我们收集了在 Lynch 综合征普遍筛查背景下接受 MMR 蛋白检测的 8282 例 CRC 连续病例。还对 4 例异质性病例通过 Nanostring nCounter® 平台检测了TIL（肿瘤浸润淋巴细胞）计数、MSI 状态和共识分子亚型。总体而言，1056 例（12.8%）CRC 显示 MMR 状态改变，其中 46 例显示异质性 MMR 图谱（占全部的 0.56%，占所有 MMRd 病例的 4.36%）。总之，作者就临床实践和常规诊断中 MMR 异质性的处理方式提出了一些批判性意见。
展开英文摘要原文
Mismatch repair (MMR) immunohistochemical (IHC) evaluation has entered pathology routine practice as the first-line screening method to identify patients with MMR deficient (MMRd)/microsatellite instability (MSI) colorectal cancer (CRC), and its misdiagnosis may significantly impact the personalization of CRC patient care.
To determine the prevalence of MMR protein intratumor heterogeneity in real-world practice, we collected a series of 8282 CRCs tested for MMR proteins in the setting of Lynch syndrome universal screening. Four heterogenous cases were also investigated for tumor infiltrating lymphocytes count, MSI status, and consensus molecular subtypes by Nanostring nCounter® Platform.
Overall, 1056 (12. 8%) CRCs showed a MMR altered status, with 46 cases showing a heterogeneous MMR profile (0. 56% of the total, and 4. 36% of all MMRd cases). To conclude, the authors make some critical remarks regarding the approach to MMR heterogeneity in clinical practice and routine diagnostics.
论文信息
- 作者
- Grillo F、Angerilli V、Parente P、Vanoli A、Luchini C、Sciallero S、Puccini A、Bergamo F
- 第一作者单位
- IRCCS Ospedale Policlinico San Martino, Genoa, Italy.Italy
- 通讯作者单位
- Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua, Italy. matteo.fassan@unipd.it.Italy
- 期刊
- Virchows Archiv : an international journal of pathology2024 Jul
- 原文标识
- PubMed 38141133 · DOI 10.1007/s00428-023-03726-z