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与林奇综合征相关的乳腺癌和直肠癌：一例报告。

Breast cancer and rectal cancer associated with Lynch syndrome: A case report.

作者信息

Qin Pei-Fang, Yang Ling, Hu Jun-Ping, Zhang Jing-Yue

机构信息

Department of Laboratory Medicine, The People Hospital of Guigang, Guigang 537100, Guangxi Zhuang Autonomous Region, China.

出版信息

World J Clin Oncol. 2024 Sep 24;15(9):1215-1221. doi: 10.5306/wjco.v15.i9.1215.

DOI:10.5306/wjco.v15.i9.1215
PMID:39351452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11438856/
Abstract

BACKGROUND

The development mechanisms of Lynch syndrome (LS)-related breast cancer (BC) and rectal cancer are complex and variable, leading to personalized variations in diagnosis and treatment plans.

CASE SUMMARY

This paper presents a comprehensive review of clinical diagnosis and treatment data from a patient with LS-associated BC and rectal cancer. Moreover, screening data and management guidelines, as well as relevant literature on LS, are included in this report. This study summarizes the molecular pathogenesis, clinicopathological features, and screening and management protocols for LS-associated BC and rectal cancer.

CONCLUSION

Implementing early screening, prevention, and timely diagnosis and treatment measures is expected to reduce mitigate the incidence and mortality of LS-related BC and rectal cancer.

摘要

背景

林奇综合征（LS）相关乳腺癌（BC）和直肠癌的发病机制复杂且多变，导致诊断和治疗方案存在个性化差异。

病例摘要

本文全面回顾了1例LS相关乳腺癌和直肠癌患者的临床诊断和治疗数据。此外，本报告还纳入了筛查数据和管理指南以及有关LS的相关文献。本研究总结了LS相关乳腺癌和直肠癌的分子发病机制、临床病理特征以及筛查和管理方案。

结论

实施早期筛查、预防以及及时的诊断和治疗措施有望降低LS相关乳腺癌和直肠癌的发病率和死亡率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/127fe80488dd/WJCO-15-1215-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/01a61a8db273/WJCO-15-1215-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/9459f12c65d3/WJCO-15-1215-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/127fe80488dd/WJCO-15-1215-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/01a61a8db273/WJCO-15-1215-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/9459f12c65d3/WJCO-15-1215-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5e2/11438856/127fe80488dd/WJCO-15-1215-g003.jpg

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本文引用的文献

1
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.遗传性乳腺癌和卵巢癌综合征及林奇综合征基因检测中不明临床意义变异体的发生：文献回顾和分析性观察回顾性队列研究。
BMC Med Genomics. 2023 Jan 16;16(1):7. doi: 10.1186/s12920-023-01437-7.
2
Discordance of microsatellite instability and mismatch repair immunochemistry occurs depending on the cancer type.微卫星不稳定性与错配修复免疫化学之间的不一致性会因癌症类型而异。
Hum Pathol. 2023 May;135:54-64. doi: 10.1016/j.humpath.2022.12.016. Epub 2022 Dec 31.
3
Lynch syndrome, molecular mechanisms and variant classification.
林奇综合征的分子机制和变异分类。
Br J Cancer. 2023 Mar;128(5):726-734. doi: 10.1038/s41416-022-02059-z. Epub 2022 Nov 24.
4
Lynch syndrome; towards more personalized management?林奇综合征；向更个体化的管理迈进？
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101790. doi: 10.1016/j.bpg.2022.101790. Epub 2022 Mar 26.
5
Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review.林奇综合征中子宫内膜癌或卵巢癌的筛查和降低风险手术：系统评价。
Int J Gynecol Cancer. 2022 May 3;32(5):646-655. doi: 10.1136/ijgc-2021-003132.
6
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.MSH6 和 PMS2 相关的林奇综合征中仍存在发病年龄早和广泛的癌症谱。
Genet Med. 2022 Jun;24(6):1187-1195. doi: 10.1016/j.gim.2022.02.016. Epub 2022 Mar 26.
7
Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.林奇综合征个体中发生的乳腺癌的形态学和基因组特征。
Clin Cancer Res. 2022 Jan 15;28(2):404-413. doi: 10.1158/1078-0432.CCR-21-2027. Epub 2021 Oct 19.
8
Lynch Syndrome and MSI-H Cancers: From Mechanisms to "Off-The-Shelf" Cancer Vaccines.林奇综合征和 MSI-H 癌症：从机制到“现货”癌症疫苗。
Front Immunol. 2021 Sep 24;12:757804. doi: 10.3389/fimmu.2021.757804. eCollection 2021.
9
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.林奇综合征家族结直肠癌风险的变异：一项回顾性队列研究。
Lancet Oncol. 2021 Jul;22(7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. Epub 2021 Jun 7.
10
Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement.结直肠癌筛查：美国预防服务工作组推荐声明。
JAMA. 2021 May 18;325(19):1965-1977. doi: 10.1001/jama.2021.6238.