Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
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DOI：
10.1371/journal.pone.0059709
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Monnat RJ Jr
中科院分区：
文献类型：
--
作者：
Lauper JM;Krause A;Vaughan TL;Monnat RJ Jr
Werner综合征(WS)是一种常染色体隐性遗传不稳定和早衰综合征，与癌症风险增加有关。我们的研究目标是利用有充分记录的研究人群来描述WS中肿瘤的谱系，并估计WS中相对于普通人群的特定类型肿瘤风险。我们通过查阅以前的病例系列和对WS的综述，以及通过PubMed、Google Scholar和日本文献搜索引擎J-East的数据库搜索，获得WS患者的肿瘤病例报告。我们使用所有病例报告定义了WS中肿瘤的谱(类型和部位)，并能够通过计算标准化发病率和相对于日本大阪府发病率的比例发病率(分别为SIR和SPIR)来确定日本WS患者中肿瘤类型的特定风险。我们使用新收集的189名WS患者和248个肿瘤患者的研究人群来定义WS中的肿瘤谱。WS患者中最常见的肿瘤是甲状腺肿瘤、恶性黑色素瘤、脑膜瘤、软组织肉瘤、白血病和骨髓白血病前期疾病以及原发骨肿瘤，占所有报告的2/3。在除白血病以外的6种最常见的肿瘤中，SIRS定义的日本WS患者的癌症风险显著增加，范围从皮肤黑色素瘤的53.5倍(95%CI：24.5,101.6)到甲状腺肿瘤的8.9%(95%CI：4.9，15.0)。SPIR定义的癌症风险在除白血病以外的最常见的恶性肿瘤中也显著增加。WS对几种特定类型的肿瘤具有很强的易感性。这些结果可作为WS临床护理的指南，并可用于其他分析，以确定WS和普通人群中癌症的发病机制。
Werner syndrome (WS) is an autosomal recessive genetic instability and progeroid (‘premature aging’) syndrome which is associated with an elevated risk of cancer. Our study objectives were to characterize the spectrum of neoplasia in WS using a well-documented study population, and to estimate the type-specific risk of neoplasia in WS relative to the general population. We obtained case reports of neoplasms in WS patients through examining previous case series and reviews of WS, as well as through database searching in PubMed, Google Scholar, and J-EAST, a search engine for articles from Japan. We defined the spectrum (types and sites) of neoplasia in WS using all case reports, and were able to determine neoplasm type-specific risk in Japan WS patients by calculating standardized incidence and proportionate incidence ratios (SIR and SPIR, respectively) relative to Osaka Japan prefecture incidence rates. We used a newly assembled study population of 189 WS patients with 248 neoplasms to define the spectrum of neoplasia in WS. The most frequent neoplasms in WS patients, representing 2/3 of all reports, were thyroid neoplasms, malignant melanoma, meningioma, soft tissue sarcomas, leukemia and pre-leukemic conditions of the bone marrow, and primary bone neoplasms. Cancer risk defined by SIRs was significantly elevated in Japan-resident WS patients for the six most frequent neoplasms except leukemia, ranging from 53.5-fold for melanoma of the skin (95% CI: 24.5, 101.6) to 8.9 (95% CI: 4.9, 15.0) for thyroid neoplasms. Cancer risk as defined by SPIR was also significantly elevated for the most common malignancies except leukemia. WS confers a strong predisposition to several specific types of neoplasia. These results serve as a guide for WS clinical care, and for additional analyses to define the mechanistic basis for cancer in WS and the general population.
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影响因子：
5.3
作者：
Goto, M
通讯作者：
Goto, M
DOI：
10.1111/j.1349-7006.2000.tb00924.x
发表时间：
2000-12-01
期刊：
JAPANESE JOURNAL OF CANCER RESEARCH
影响因子：
--
作者：
Ishikawa, Y;Miller, RW;Goto, M
通讯作者：
Goto, M
Shwachman-Diamond 综合征的临床谱和分子病理生理学。
影响因子：
3.2
作者：
Huang JN;Shimamura A
通讯作者：
Shimamura A
影响因子：
14.5
作者：
Monnat RJ Jr
通讯作者：
Monnat RJ Jr
影响因子：
--
作者：
German, J
通讯作者：
German, J