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林奇综合征诊断:种系测试决策过程。

Lynch syndrome diagnostics: decision-making process for germ-line testing.

机构信息

Unidad de Consejo Genético Este Castilla y León, Sección de Oncología Médica, Complejo Asistencial Universitario de Burgos, Hospital General Yagüe, Burgos, Spain.

出版信息

Clin Transl Oncol. 2012 Apr;14(4):254-62. doi: 10.1007/s12094-012-0793-3.

DOI:10.1007/s12094-012-0793-3
PMID:22484632
Abstract

Cancer risks and medical management of Lynch syndrome (LS) differ from other hereditary or familial clustering of colorectal cancer. Differential diagnosis has improved as a result of the growing clinical and molecular knowledge about LS. Appropriate application of these advances in several scenarios constitutes a decision-making process to further decide germ-line testing with accuracy and efficiency. However, an only molecular-screening algorithm, with a limited number of steps and choices, may be difficult to devise. How, when, where and at what expense to use the different diagnostic tools remain dynamic and changeable under different circumstances. From a clinical point of view, it is advisable to discuss conflicting aspects to guide LS diagnosis.

摘要

林奇综合征(LS)的癌症风险和医学管理与其他结直肠癌的遗传性或家族性聚集不同。随着对 LS 的临床和分子知识的不断增加,鉴别诊断得到了改善。在几种情况下适当应用这些进展构成了一个决策过程,以进一步准确有效地进行种系检测。然而,设计一个只有分子筛查算法,具有有限的步骤和选择,可能是困难的。如何、何时、何地以及以何种代价使用不同的诊断工具在不同的情况下仍然是动态和变化的。从临床的角度来看,讨论有争议的方面以指导 LS 诊断是明智的。

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本文引用的文献

1
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.林奇综合征中胚系 EPCAM 缺失的复发和变异。
Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1.
2
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.EPCAM 缺失阳性林奇综合征患者结直肠癌和子宫内膜癌的风险:一项队列研究。
Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8.
3
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome.EPCAM 蛋白表达分析在林奇综合征诊断中的应用。
J Clin Oncol. 2011 Jan 10;29(2):223-7. doi: 10.1200/JCO.2010.32.0820. Epub 2010 Nov 29.
4
Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma.免疫组化检测 PMS2 和 MSH6 可单独替代四抗体 panel 用于结直肠腺癌错配修复缺陷的筛选。
Pathology. 2010;42(5):409-13. doi: 10.3109/00313025.2010.493871.
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Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers.MSH2 的体细胞超甲基化是林奇综合征结直肠癌中的一个常见事件。
Cancer Res. 2010 Apr 15;70(8):3098-108. doi: 10.1158/0008-5472.CAN-09-3290. Epub 2010 Apr 13.
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Recent insights into the pathogenesis of colorectal cancer.结直肠癌发病机制的最新研究进展。
Curr Opin Gastroenterol. 2010 Jan;26(1):47-52. doi: 10.1097/MOG.0b013e328332b850.
7
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.胚系 MLH1 表观遗传突变作为遗传性非息肉病性结直肠癌的病因机制。
J Med Genet. 2009 Dec;46(12):793-802. doi: 10.1136/jmg.2009.068122. Epub 2009 Jun 29.
8
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.MLH1基因的种系高甲基化和EPCAM基因的缺失是林奇综合征的常见病因。
Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678.
9
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.缺失TACSTD1基因的最后一个外显子构成了一类导致林奇综合征的独特突变类型。
Hum Mutat. 2009 Feb;30(2):197-203. doi: 10.1002/humu.20942.
10
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.由于TACSTD1基因3'外显子缺失导致的林奇综合征家族中MSH2基因的可遗传体细胞甲基化和失活。
Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21.