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早发性结直肠癌的基因检测:病例报告和循证临床指南。

Genetic testing for young-onset colorectal cancer: case report and evidence-based clinical guidelines.

机构信息

Mayo Medical School, College of Medicine, Mayo Clinic, Rochester, Minnesota.

出版信息

Radiol Oncol. 2010 Mar;44(1):57-61. doi: 10.2478/v10019-010-0005-0. Epub 2010 Mar 18.

DOI:10.2478/v10019-010-0005-0
PMID:22933892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3423677/
Abstract

BACKGROUND

Young-onset colorectal cancer is clinicopathologically different from older-onset colorectal cancer and tends to occur in patients with hereditary germline conditions such as Lynch syndrome and familial adenomatous polyposis.

CASE REPORT

We describe the case of a 44-year-old man with a paternal history of colon polyps, a personal 2-year history of hematochezia, and a diagnosis of rectal cancer. Further clinical evaluation of the patient at our institution determined the cancer to be stage IIIA. The patient underwent genetic counseling and testing, which indicated he was negative for the most common familial cancer syndromes. After treatment with neoadjuvant chemoradiotherapy, surgery, and adjuvant chemotherapy, the patient has done well. We review the hereditary cancer syndromes and genetic tests to consider for patients with early-onset colorectal cancer.

CONCLUSIONS

This case underscores the importance of following cancer-screening guidelines.

摘要

背景

早发性结直肠癌在临床病理上与晚发性结直肠癌不同,并且往往发生在具有遗传性种系条件的患者中,如林奇综合征和家族性腺瘤性息肉病。

病例报告

我们描述了一例 44 岁男性的病例,他有结肠息肉的家族史,个人有 2 年便血史,被诊断为直肠癌。在我们的机构对患者进行进一步的临床评估后,确定癌症为 IIIA 期。患者接受了遗传咨询和检测,结果表明他没有常见的家族性癌症综合征。在接受新辅助放化疗、手术和辅助化疗后,患者恢复良好。我们回顾了遗传性癌症综合征和遗传测试,以考虑早发性结直肠癌患者。

结论

这个病例强调了遵循癌症筛查指南的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0b/3423677/accef7fec439/rado-44-01-57f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0b/3423677/7e6b135f8eab/rado-44-01-57f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0b/3423677/accef7fec439/rado-44-01-57f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0b/3423677/7e6b135f8eab/rado-44-01-57f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0b/3423677/accef7fec439/rado-44-01-57f2.jpg

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本文引用的文献

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The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.MUTYH检测在因遗传性非息肉病性结直肠癌综合征检测而转诊的早发性微卫星稳定型结直肠癌患者中的价值。
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Differences in plasma TIMP-1 levels between healthy people and patients with rectal cancer stage II or III.健康人与 II 期或 III 期直肠癌患者血浆 TIMP-1 水平的差异。
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Microsatellite instability in colorectal cancer.结直肠癌中的微卫星不稳定性。
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