STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
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DOI：
10.1136/jmg.2004.026294
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发表时间：
2005-05-01
影响因子：
4
通讯作者：
Royer-Pokora, B
中科院分区：
文献类型：
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作者：
Schumacher, V;Vogel, T;Royer-Pokora, B
方法从德国的一些机构收集了24例家族性和13例明显散发的无家族病史的PJS病例。在四个案例中，无法获得家族史。患者符合Tomlinson和Houlston提出的诊断标准，26即(A)存在两个或两个以上PJS型错构瘤性息肉，或(B)一个PJS息肉伴典型PJS色素沉着或PJS家族史。所有癌症诊断均经组织学检查或病理报告证实。根据当地伦理委员会批准的研究方案记录患者数据和家族史。在获得知情同意后，采集血样进行STK11基因突变分析。
METHODSA total of 24 familial and 13 apparently sporadic PJS cases without a family history were collected from a number of German institutions. In four cases, the family history could not be obtained. The patients fulfilled the diagnostic criteria suggested by Tomlinson and Houlston, 26 namely the presence of (a) two or more hamartomatous polyps of the PJS type, or (b) one PJS polyp along with classical PJS pigmentation or a family history of PJS. All cancer diagnoses were confirmed by tissue review or pathology reports. Patient data and family histories were documented according to a study protocol approved by the local ethics committee. Blood samples were collected for mutation analysis of STK11 after informed consent was obtained.