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发起物甲基化可能是林奇综合征致癌的第二次打击

Ileana Wanda Carnevali^1,2, Giulia Cini³, Laura Libera^2,4

¹UO Anatomia Patologica Ospedale di Circolo ASST-Settelaghi, 21100 Varese, Italy.

|November 25, 2023

概括

经常被认为是零星的MLH1高甲基化,也发生在林奇综合征癌症中. 这一发现影响了结直肠和子宫内膜癌查方案,需要考虑家族病史.

科学领域:

在瘤学瘤学.
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
癌症遗传学癌症遗传学

背景情况:

MLH1高甲基化是一种与结直肠癌 (CRC) 和子宫内膜癌 (EC) 瘤发生有关的表观遗传变异,导致基因沉默和微卫星不稳定.
MLH1高甲基化通常被视为零星事件,有助于区分零星癌症和林奇综合征 (LS) 等遗传疾病.
然而,在患有CRC和EC的LS患者中,罕见的MLH1高甲基化病例已被记录.

研究的目的:

调查MLH1高甲基化在接受遗传咨询的患者癌症中的发生和重要性.
确定MLH1高甲基化是否仅仅是零星事件,或者它是否也存在于林奇综合征相关的癌症中.

主要方法:

分析了来自56名患者的61种癌症 (31种CRC,27种EC,2种卵巢,1种胃癌),以检测MLH1蛋白质损失和微卫星不稳定性.
在所有选定的情况下,研究了MLH1促进物甲基化和MLH1/PMS2生殖系变异.

主要成果:

在16.7%的CRC和40%的EC病例中检测到体质MLH1促销物高甲基化,这些病例具有MLH1生殖系致病变体.
在两个家族中确定了初级和二级MLH1表皮,表明复杂的遗传模式.

结论:

MLH1高甲基化不仅仅是一种零星的癌症机制;相当一部分与林奇综合征相关的癌症表现出MLH1高甲基化.
目前的普遍林奇综合征查协议包括MLH1甲基化测试,应仔细应用,考虑个体患者和家族病史.

关键词:

在LS的普遍查.林奇综合征是什么? 林奇综合征是什么?MLH1甲基化的一种方法.宪法上的表达方式 (epimutation)

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