Germline APC Mutations Are Not Commonly Seen in Children With Sporadic Hepatoblastoma

被引:15
作者
Harvey, J. J. [2 ,3 ]
Clark, S. K. [3 ]
Hyer, W. [3 ]
Hadzic, N. [4 ]
Tomlinson, I. P. M. [2 ]
Hinds, R. [1 ]
机构
[1] Kings Coll Hosp London, Dept Child Hlth, Univ London Kings Coll, Sch Med, London SE5 9RS, England
[2] London Res Inst, UK Mol & Populat Genet Lab, Harrow, Middx, England
[3] St Marks Hosp, Polyposis Registry, Harrow, Middx, England
[4] Kings Coll Hosp London, Inst Liver Studies, Univ London Kings Coll, Sch Med, London SE5 9RS, England
关键词
Adenomatous polyposis coli; Familial adenomatous polyposis; Hepatoblastoma;
D O I
10.1097/MPG.0b013e318174e808
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Hepatoblastoma is the most common primary liver tumor in childhood and occurs more commonly in families with familial adenomatous polyposis. Germline mutations of the gene responsible for familial adenomatous polyposis-adenomatous polyposis coli (APC)-are described in patients with hepatoblastoma even without a family history. We investigated children presenting with apparently sporadic hepatoblastoma between 1991 and 2004. Blood samples were available from 29 children (18 boys) whose conditions were diagnosed at median at a of 22 months (range 6-119 months). No germline APC Mutations were found, which does not support the need for routine screening in sporadic hepatoblastoma in the absence of a suggestive family history of colorectal cancer or suspicion of familial adenomatous polyposis.
引用
收藏
页码:675 / 677
页数:3
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