印戒细胞结直肠癌：结直肠腺癌罕见亚群的基因组见解。
Signet ring cell colorectal cancer: genomic insights into a rare subpopulation of colorectal adenocarcinoma.
机构信息
Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Division of Medical Oncology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
出版信息
Br J Cancer. 2019 Sep;121(6):505-510. doi: 10.1038/s41416-019-0548-9. Epub 2019 Aug 13.
BACKGROUND
Signet ring cell carcinoma (SRCC) is a rare subtype of colorectal cancer (CRC). The aim of this study was to characterise the genomic alterations and outcomes of SRCC.
METHODS
Medical records of metastatic CRC (mCRC) patients whose tumours were evaluated by NGS analysis were reviewed. SC-mCRC were classified into two groups: SRCC (>50% signet ring cells) and adenocarcinoma (AC) with SC component (≤50% signet ring cells).
RESULTS
Six hundred and sixty-five mCRC patients were included. Of the 93 mCRC cases with SC features, 63 had slides for review. Of those 63 cases, 35 were confirmed SRCC, and 28 were AC with SC component. Compared with AC group, KRAS and PIK3CA mutations (mts) were found in only 11% (OR: 0.13) and 3% (OR: 0.15) of SRCC cases, respectively. In contrast to the 44% rate of APC mts in AC group, only 3% of SRCC patients had APC mts (OR = 0.04).
CONCLUSIONS
SRCC has distinct molecular features, including low rates of KRAS, PIK3CA and APC mts. Further study to identify activation pathways and potential therapeutic targets are needed.
背景
印戒细胞癌（SRCC）是一种罕见的结直肠癌（CRC）亚型。本研究旨在描述 SRCC 的基因组改变和结局。
方法
回顾了接受 NGS 分析评估的转移性结直肠癌（mCRC）患者的病历。将 SC-mCRC 分为两组：SRCC（>50%印戒细胞）和腺癌（AC）伴 SC 成分（≤50%印戒细胞）。
结果
共纳入 665 例 mCRC 患者。在 93 例具有 SC 特征的 mCRC 病例中，有 63 例有幻灯片进行复查。在这 63 例病例中，35 例被确认为 SRCC，28 例为 AC 伴 SC 成分。与 AC 组相比，SRCC 组中仅发现 11%（OR：0.13）和 3%（OR：0.15）的 KRAS 和 PIK3CA 突变（mts）。与 AC 组中 APC mts 的发生率为 44%相比，只有 3%的 SRCC 患者存在 APC mts（OR=0.04）。
结论
SRCC 具有独特的分子特征，包括 KRAS、PIK3CA 和 APC mts 的发生率较低。需要进一步研究以确定激活途径和潜在的治疗靶点。
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