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携带BRCA2突变的转移性早发性结肠癌，表现为巨大的盆腔阻塞性肿块，并导致急性肝衰竭和急性低氧性呼吸衰竭。

Metastatic Early-Onset Colon Cancer With BRCA2 Mutation Presenting With a Large Obstructing Pelvic Mass and Causing Acute Liver Failure and Acute Hypoxic Respiratory Failure.

作者信息

Forsah Sabastain F, Bijoy Sini, Arrey Agbor Divine Besong, Ugwendum Derek, Okang Margarieta, Syed Uroosa M, Aviles Cinthya, Nfonoyim Jay

机构信息

Internal Medicine, Richmond University Medical Center, Staten Island, USA.

Hematology and Oncology, Richmond University Medical Center, Staten Island, USA.

出版信息

Cureus. 2024 Jul 17;16(7):e64770. doi: 10.7759/cureus.64770. eCollection 2024 Jul.

DOI:10.7759/cureus.64770
PMID:39156267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11329380/
Abstract

Colorectal cancer (CRC) still constitutes a significant healthcare burden. Although its overall incidence is reducing, the incidence of early-onset CRC is increasing. There is uncertainty about the association between CRC and mutations and also, even though most cancers metastasize to the liver, acute liver failure (ALF) from metastatic cancer and specifically CRC is uncommon. This is a case of a young patient with mutation who presented with a large obstructing CRC with extensive metastatic burden to the liver, causing a fatal ALF. This case shows the growing number of ALFs associated with metastatic disease and suggests a possible association between mutation and CRC. This association needs more research to establish.

摘要

结直肠癌（CRC）仍然是一个重大的医疗负担。尽管其总体发病率在下降，但早发性CRC的发病率却在上升。CRC与突变之间的关联尚不确定，而且，尽管大多数癌症会转移至肝脏，但转移性癌症尤其是CRC导致的急性肝衰竭（ALF）并不常见。这是一例患有突变的年轻患者，其表现为巨大的阻塞性CRC，并伴有广泛的肝脏转移负担，导致致命的ALF。该病例显示与转移性疾病相关的ALF数量不断增加，并提示突变与CRC之间可能存在关联。这种关联需要更多研究来确定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/f15067c6bdb7/cureus-0016-00000064770-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/d60757dedcf5/cureus-0016-00000064770-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3269552e0131/cureus-0016-00000064770-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3e50e9afa920/cureus-0016-00000064770-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3fee8fd0aff7/cureus-0016-00000064770-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/f15067c6bdb7/cureus-0016-00000064770-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/d60757dedcf5/cureus-0016-00000064770-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3269552e0131/cureus-0016-00000064770-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3e50e9afa920/cureus-0016-00000064770-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/3fee8fd0aff7/cureus-0016-00000064770-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a663/11329380/f15067c6bdb7/cureus-0016-00000064770-i05.jpg

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本文引用的文献

1
Young-onset colorectal cancer.青年结直肠癌。
Nat Rev Dis Primers. 2023 Apr 27;9(1):21. doi: 10.1038/s41572-023-00432-7.
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Metastatic colorectal cancer: mechanisms and emerging therapeutics.转移性结直肠癌：机制与新兴治疗策略。
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A Rare Case of Acute Liver Failure Secondary to Miliary Liver Metastasis.一例罕见的粟粒性肝转移继发急性肝衰竭病例。
Cureus. 2022 Dec 7;14(12):e32282. doi: 10.7759/cureus.32282. eCollection 2022 Dec.
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The Rising Incidence of Early-Onset Colorectal Cancer.早发性结直肠癌发病率上升。
Dtsch Arztebl Int. 2023 Feb 3;120(Forthcoming):59-64. doi: 10.3238/arztebl.m2022.0368.
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BRCA mutations and gastrointestinal cancers: When to expect the unexpected?BRCA基因突变与胃肠道癌症：何时会出现意外情况？
World J Clin Oncol. 2021 Jul 24;12(7):565-580. doi: 10.5306/wjco.v12.i7.565.
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Risk of colorectal cancer associated with BRCA1 and/or BRCA2 mutation carriers: systematic review and meta-analysis.BRCA1 和/或 BRCA2 基因突变携带者结直肠癌发病风险的系统评价和荟萃分析。
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Early-onset colorectal cancer in young individuals.青年人群中的早发性结直肠癌。
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9
BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.BRCA1 和 BRCA2 基因突变与结直肠癌风险：系统评价和荟萃分析。
J Natl Cancer Inst. 2018 Nov 1;110(11):1178-1189. doi: 10.1093/jnci/djy148.
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Patterns of metastasis in colon and rectal cancer.结直肠癌转移的模式。
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