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[林奇综合征与子宫内膜癌]

[Lynch syndrome and endometrial cancer].

作者信息

Bats Anne-Sophie, Rossi Léa, Le Frere-Belda Marie-Aude, Narjoz Céline, Cournou Caroline, Gosset Marie, Ngo Charlotte, Delomenie Myriam, Nos Claude, Blons Hélène, Laurent-Puig Pierre, Lecuru Fabrice

机构信息

Université Paris Descartes, Sorbonne Paris cité, faculté de médecine, 15, rue de l'École-de-médecine, 75006 Paris, France; Assistance publique-Hôpitaux de Paris, hôpital européen Georges-Pompidou, chirurgie cancérologique gynécologique et du sein, 20, rue Leblanc, 75015 Paris, France; Université Paris Descartes, Inserm UMR-S 1147, 45, rue des Saints-Pères, 75006 Paris, France.

Université Paris Descartes, Sorbonne Paris cité, faculté de médecine, 15, rue de l'École-de-médecine, 75006 Paris, France; Assistance publique-Hôpitaux de Paris, hôpital européen Georges-Pompidou, chirurgie cancérologique gynécologique et du sein, 20, rue Leblanc, 75015 Paris, France.

出版信息

Bull Cancer. 2017 Dec;104(12):1013-1021. doi: 10.1016/j.bulcan.2017.06.018. Epub 2017 Oct 21.

Abstract

Lynch syndrome is a hereditary predisposition to many tumors, in the forefront of which endometrial cancer in women. It is related to the mutation of a mismatch repair gene, involved in DNA mismatch repair. This mutation leads to a loss of expression of the corresponding protein, and to genome instability in tumor cells. Cumulative risk at the age of 70 years is over 40 %. Endometrial cancers related to Lynch syndrome are most of the time sentinel (They reveal the predisposition in half of families.) and are characterized by young age at onset (before 60 years) and low body mass index compared with patients presenting sporadic tumors. Pathological tumor characteristics are debated but it seems to be two types of tumors according to age, older patients having standard tumors and younger ones more aggressive pattern. Endometrial cancers related to Lynch syndrome can be synchronous of ovarian cancer. Therapeutic management does not present any particularity. Conservative treatment can be considered more frequently due to young age of patients but has to respect usual guidelines. Prognosis of these tumors is controversial. Gynaecological screening, although its benefit has not been proved, appears crucial in this population, as well as prophylactic surgery, which remains the best prevention.

摘要

林奇综合征是一种对多种肿瘤的遗传性易感性疾病,其中女性子宫内膜癌最为突出。它与一种错配修复基因的突变有关,该基因参与DNA错配修复。这种突变导致相应蛋白质表达缺失,并导致肿瘤细胞基因组不稳定。70岁时的累积风险超过40%。与林奇综合征相关的子宫内膜癌大多是哨兵性的(它们在一半的家族中揭示了这种易感性),其特征是发病年龄较轻(60岁之前),与散发性肿瘤患者相比体重指数较低。肿瘤的病理特征存在争议,但根据年龄似乎有两种类型的肿瘤,老年患者的肿瘤较为典型,而年轻患者的肿瘤侵袭性更强。与林奇综合征相关的子宫内膜癌可能与卵巢癌同时发生。治疗管理没有任何特殊性。由于患者年龄较轻,可更频繁地考虑保守治疗,但必须遵循常规指南。这些肿瘤的预后存在争议。妇科筛查尽管其益处尚未得到证实,但在这一人群中显得至关重要,预防性手术仍是最佳预防措施。

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