Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.
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DOI：
10.1186/1897-4287-8-6
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发表时间：
2010-06-17
影响因子：
1.7
通讯作者：
Boardman LA
中科院分区：
文献类型：
--
作者：
Riegert-Johnson DL;Gleeson FC;Roberts M;Tholen K;Youngborg L;Bullock M;Boardman LA
Cowden 综合征 (CS) 的癌症风险和 Lhermitte-Duclos 病 (LDD) 风险评估范围广泛，且基于少数患者。风险评估对于诊断标准、遗传咨询和癌症监测的制定至关重要。为了进一步阐述和估计与 CS 相关的风险，对大量患者进行了评估。 CS 患者是根据医学文献和梅奥诊所的记录确定的。所有患者均符合公认的 CS 诊断标准。总共纳入 211 名 CS 患者（年龄 44 ± 16 岁，64% 女性，46% PTEN 突变）（已发表文献 90%，Mayo Clinic 系列 10%）。任何癌症诊断的累积终生（70 岁）风险均为 89%（95% 置信区间 (CI) = 80%,95%），乳腺癌[女性] 81% (CI = 66%,90%)，LDD 32% (CI = 19%,49%)，甲状腺癌 21% (CI = 14%,29%)，子宫内膜癌 19% (CI = 10%,32%)，肾癌15% (CI = 6%,32%)。发现了先前未报告的结直肠癌终生风险增加（16%，CI = 8%,24%）。男性 CS 患者诊断出的癌症少于女性患者，并且通常患有与 CS 不典型相关的癌症。百分之七的乳腺癌和甲状腺癌发生在年龄小于开始放射学癌症筛查的建议年龄的患者中。有 CS 和 PTEN 突变家族史的患者比没有家族史的患者患癌症的风险较低。这项研究证实 CS 患者患癌症的风险增加，并提供定量数据来指导临床护理。根据不同的肿瘤谱，可能会指定不同的男性和女性临床 CS 诊断标准。
Cancer risk and Lhermitte-Duclos disease (LDD) risk estimates for Cowden syndrome (CS) are broad and based on a small number of patients. Risk estimates are vital to the development of diagnostic criteria, genetic counseling, and cancer surveillance. To further elaborate and estimate the risks associated with CS, a large cohort of patients was evaluated. CS patients were identified from the medical literature and the Mayo Clinic's records. All patients met accepted diagnostic criteria for CS. A total of 211 CS patients (age 44 ± 16 years, 64% female, 46% PTEN mutation) were included (published literature 90% and Mayo Clinic series 10%). The cumulative lifetime (age 70 years) risks were 89% for any cancer diagnosis (95% confidence interval (CI) = 80%,95%), breast cancer [female] 81% (CI = 66%,90%), LDD 32% (CI = 19%,49%), thyroid cancer 21% (CI = 14%,29%), endometrial cancer 19% (CI = 10%,32%), and renal cancer 15% (CI = 6%,32%). A previously unreported increased lifetime risk for colorectal cancer was identified (16%, CI = 8%,24%). Male CS patients had fewer cancers diagnosed than female patients and often had cancers not classically associated with CS. Seven percent of breast and thyroid cancers occurred in patients who were younger than the recommended age to commence radiographic cancer screening. There was a trend for patients with a family history of CS and PTEN mutations to have a lower cancer risk than those without. This study confirms CS patients are at increased risk for cancer and quantitative data is provided to guide clinical care. Based on a different tumor spectrum, separate male and female clinical CS diagnostic criteria may be indicated.
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影响因子：
3.5
作者：
Zhou, XP;Marsh, DJ;Eng, C
通讯作者：
Eng, C
DOI：
10.1016/s0190-9622(97)80295-2
发表时间：
1997-06-01
影响因子：
13.8
作者：
OHare, AM;Cooper, PH;Parlette, HL
通讯作者：
Parlette, HL
影响因子：
3.5
作者：
Marsh, DJ;Kum, JB;Eng, C
通讯作者：
Eng, C
影响因子：
11.5
作者：
Hearle, Nicholas;Schumacher, Valerie;Houlston, Richard S.
通讯作者：
Houlston, Richard S.
影响因子：
4
作者：
Faghri, S.;Tamura, D.;DiGiovanna, J. J.
通讯作者：
DiGiovanna, J. J.