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一名患有林奇综合征患者的肾上腺嗜铬细胞瘤。

Adrenal pheochromocytoma in a patient with Lynch Syndrome.

作者信息

Rodriguez Katherine M, Harris Kelly T, Singla Nirmish

机构信息

Department of Urology, The James Buchanan Brady Urological Institute, The Johns Hopkins University School of Medicine, USA.

出版信息

Urol Case Rep. 2022 Feb 3;42:102015. doi: 10.1016/j.eucr.2022.102015. eCollection 2022 May.

DOI:10.1016/j.eucr.2022.102015
PMID:35530545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9073213/
Abstract

Lynch Syndrome (LS), or hereditary non-polyposis colorectal cancer, is the most common cause of hereditary colorectal cancer. There are well described extra-colonic manifestations of LS, including gynecologic and upper urinary tract malignancies. Other extra-colonic manifestations of LS are less understood. Here we present an unusual case of a functional adrenal pheochromocytoma in a 31-year old man with LS.

摘要

林奇综合征(LS),即遗传性非息肉病性结直肠癌,是遗传性结直肠癌最常见的病因。LS有多种已被充分描述的结肠外表现,包括妇科和上尿路恶性肿瘤。LS的其他结肠外表现则了解较少。在此,我们报告一例31岁患有LS的男性发生功能性肾上腺嗜铬细胞瘤的罕见病例。

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Adrenal pheochromocytoma in a patient with Lynch Syndrome.一名患有林奇综合征患者的肾上腺嗜铬细胞瘤。
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An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.孕期与希佩尔-林道病和林奇综合征相关的嗜铬细胞瘤罕见病例
JCEM Case Rep. 2024 Jun 21;2(6):luae097. doi: 10.1210/jcemcr/luae097. eCollection 2024 Jun.
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The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center.肾上腺切除术在嗜铬细胞瘤治疗中的作用:葡萄牙转诊中心的经验。
Endocrine. 2024 Oct;86(1):409-416. doi: 10.1007/s12020-024-03916-y. Epub 2024 Jun 8.

本文引用的文献

1
[An incidental finding of pheochromocytoma in a 33-year-old patient with Lynch syndrome].
Vnitr Lek. 2020 Spring;66(5):80-84.
2
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.NCCN 指南解读:遗传/家族性高风险评估:结直肠癌,第 2.2019 版。
J Natl Compr Canc Netw. 2019 Sep 1;17(9):1032-1041. doi: 10.6004/jnccn.2019.0044.
3
HNPCC-associated pheochromocytoma: expanding the tumor spectrum.遗传性非息肉病性结直肠癌相关嗜铬细胞瘤:拓展肿瘤谱
Pancreas. 2015 May;44(4):676-8. doi: 10.1097/MPA.0000000000000311.
4
Lynch syndrome: an updated review.林奇综合征:更新综述。
Genes (Basel). 2014 Jun 27;5(3):497-507. doi: 10.3390/genes5030497.
5
Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.EGAPP工作组的建议:针对新诊断的结直肠癌患者的基因检测策略,旨在降低亲属患林奇综合征的发病率和死亡率。
Genet Med. 2009 Jan;11(1):35-41. doi: 10.1097/GIM.0b013e31818fa2ff.