Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
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DOI：
10.1038/s41431-020-0651-7
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发表时间：
2020-10
期刊：
影响因子：
--
通讯作者：
European Reference Network GENTURIS
中科院分区：
文献类型：
--
作者：
Tischkowitz M;Colas C;Pouwels S;Hoogerbrugge N;PHTS Guideline Development Group;European Reference Network GENTURIS
PTEN错构瘤肿瘤综合征是一种多样化的多系统疾病，易导致错构瘤生长，增加乳腺癌、甲状腺癌、肾癌的风险，并可能增加子宫内膜癌、结直肠癌和黑色素瘤的风险。在PHTS的癌症监测方面没有国际共识，所有现行指南都是基于专家意见。临床遗传学、妇科学、内分泌学、皮肤病学、放射学、胃肠病学和普通外科专业的临床医生与受影响的个人及其代表一起进行了全面的文献审查，并制定了指南。对乳腺癌、甲状腺癌和肾癌的监测提出了建议。对其他部位（包括子宫内膜、结肠和皮肤）的建议有限。建议的PHTS癌症监测建议需要协调的多学科方法和重要的患者承诺。本指南中癌症监测的证据基础有限，强调需要对PHTS人群中监测的有效性进行前瞻性评价。
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
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影响因子：
2.1
作者：
Mester JL;Zhou M;Prescott N;Eng C
通讯作者：
Eng C
种系PTEN突变患者的终生癌症风险。
DOI：
10.1158/1078-0432.ccr-11-2283
发表时间：
2012-01-15
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Tan MH;Mester JL;Ngeow J;Rybicki LA;Orloff MS;Eng C
通讯作者：
Eng C
影响因子：
3.9
作者：
Mester JL;Ghosh R;Pesaran T;Huether R;Karam R;Hruska KS;Costa HA;Lachlan K;Ngeow J;Barnholtz-Sloan J;Sesock K;Hernandez F;Zhang L;Milko L;Plon SE;Hegde M;Eng C
通讯作者：
Eng C
影响因子：
8.9
作者：
Stanich, Peter P.;Owens, Victoria L.;Patnaik, Mrinal M.
通讯作者：
Patnaik, Mrinal M.
影响因子：
2.2
作者：
Nieuwenhuis, Marry H.;Kets, C. Marleen;Vasen, Hans F. A.
通讯作者：
Vasen, Hans F. A.