文献简介

出版社:PLoS ONE

作  者:Julia M. Lauper, Alison Krause, Thomas L. Vaughan, Raymond J. Monnat Jr.

编  号:10.1371/journal.pone.0059709

关键字:

年  份:2013   点击量:494

文献摘要


Abstract
Background:
Werner syndrome (WS) is an autosomal recessive genetic instability and progeroid (‘premature aging’) 
syndrome which is associated with an elevated risk of cancer.
Objectives:
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.
Methods:
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 typespecific risk in Japan WS patients by calculating standardized incidence and proportionate incidence ratios (SIR and SPIR, respectively) relative to Osaka Japan prefecture incidence rates.
Results:
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.
Conclusions:
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.