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首页> 外文期刊>Cancer: A Journal of the American Cancer Society >Germline PTEN, SDHB-D, and KLLN Alterations in Endometrial Cancer Patients With Cowden and Cowden-Like Syndromes:An International, Multicenter, Prospective Study
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Germline PTEN, SDHB-D, and KLLN Alterations in Endometrial Cancer Patients With Cowden and Cowden-Like Syndromes:An International, Multicenter, Prospective Study

机译：子宫内膜癌症患者的种系PTEN，SDHB-D和KLLN改变与Cowden和Cowden的综合征：国际，多中心，前瞻性研究

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BACKGROUND: Endometrial cancer has been recognized only recently as a major component of Cowden syndrome (CS). Germline alterations in phosphatase and tensin homolog (PTEN; PTEN_mut1), succinate dehydrogenase B/C/D (SDHB-D; SDHx_var1), and killin (KLLN_Me1) cause CS and Cowden syndrome-like (CSL) phenotypes. This study was aimed at identifying the prevalence and clinicopathologic predictors of germline PTEN_mut1, SDHx_var1, and KLLN_Me1 in CS/CSL patients presenting with endome trial cancer. METHODS: PTEN and SDHB-D mutation and KLLN promoter methylation analyses were performed for 371 prospectively enrolled patients (2005 -2011). PTEN protein was analyzed from patient-derived lymphoblast lines. The PTEN Cleveland Clinic (CC) score is a weighted, regression-based risk calculator giving the a priori risk for PTEN_mut1. Demographic and clinicopathologic features were correlated with the specific gene. RESULTS: Germline PTEN_mut1, SDHx_var1, and KLLN_Me1 were found in 7%, 9.8%, and 10.5% of informative samples, respectively. Predictors of PTEN_mut1 included an age <= 50 years (odds ratio [OR] for an age < 30 years, 6.1 [P 5.015]; OR for an age of 30-50 years, 4.4 [P 5 .001]), macrocephaly (OR, 14.4; P <.001), a higher CC score (OR for a 1-U increment, 1.35; P <.001), a PTEN protein level within the lowest quartile (OR, 5.1; P 5 .039), and coexisting renal cancer (OR, 5.7;P 5.002). KLLN_Me1 patients were on average 8 years younger than KLLN_Me-patients (44 vs 52 years, P=.018). Predictors of KLLN_Me1 were a younger age and a higher CC score. On the other hand, no clinical predictors of SDH_var1 were found. CONCLUSIONS: Clinical predictors of PTEN and KLLN alterations, but not SDHx_var1, were identified. These predictors should alert the treating physician to potential heritable risk and the need for referral to genetic professionals. High-risk cancer surveillance and prophylactic surgery of the uterus may be considered for KLLN_Me1 patients similarly to PTEN_mut1 patients
机译：背景：子宫内膜癌已被认为仅作为Cowden综合征（CS）的主要组成部分。磷酸酶和苔藓素同源物中的种系改变（PTEN; PTEN_MUT1），琥珀酸钠脱氢酶B / C / D（SDHB-D; SDHX_VAR1）和杀死（KLLN_ME1）导致CS和COWDEN综合征样（CSL）表型。本研究旨在鉴定患有本组试验癌症的CS / CSL患者的种系Pten_mut1，SDHX_VAR1和KLLN_ME1的患病率和临床病变预测因子。方法：PTEN和SDHB-D突变和KLLN启动子甲基化分析进行371例患者（2005-2011）。从患者衍生的淋巴细胞系分析PTEN蛋白。 PTEN克利夫兰诊所（CC）得分是一种加权，基于回归的风险计算器，为PTEN_MUT1提供了先验的风险。人口统计学和临床​​病理学特征与特定基因相关。结果：种系Pten_mut1，SDHX_VAR1和KLLN_ME1分别以7％，9.8％和10.5％的信息样本中找到。 PTEN_MUT1的预测因素包括年龄<= 50年（持续时间<或] <30岁，6.1 [P 5.015];或者为30-50岁，4.4 [P 5.001]），宏观麦或，14.4; p <.001），越来越高的CC评分（或为1-U增量，1.35; p <.001），在最低四分位数（或，5.1; p 5 .039）内的PTEN蛋白水平，并共存肾癌（或5.7; p 5.002）。 Klln_me1患者平均比Klln_me-患者更年轻8岁（44 vs 52岁，P = .018）。 Klln_me1的预测因子是年龄较小的年龄和较高的CC分数。另一方面，发现了SDH_VAR1的临床预测因子。结论：鉴定了PTEN和KLLN改变的临床预测因子，但不是SDHX_VAR1。这些预测因素应提醒治疗医生对潜在的遗传风险以及对遗传专业人员转诊的需求。与PTEN_MUT1患者同样地考虑klln_me1患者的高危癌症监测和子宫的预防性手术

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