Harvey Jj, Clark Sk, Hyer W, Hadzic N, Tomlinson Ipm, Hinds R
Cancer Research, UK Molecular and Population Genetics Laboratory, London Research Institute, London, UK.
J Pediatr Gastroenterol Nutr. 2008 Nov;47(5):675-7. doi: 10.1097/MPG.0b013e318174e808.
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 a median age 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.
肝母细胞瘤是儿童期最常见的原发性肝脏肿瘤，在患有家族性腺瘤性息肉病的家庭中更常见。即使没有家族病史，肝母细胞瘤患者中也有负责家族性腺瘤性息肉病的基因——腺瘤性息肉病 coli（APC）的种系突变的描述。我们调查了1991年至2004年间出现明显散发性肝母细胞瘤的儿童。从29名儿童（18名男孩）获得了血样，他们的病情在中位年龄22个月（范围6 - 119个月）时被诊断出来。未发现种系APC突变，这并不支持在没有提示性结直肠癌家族史或怀疑家族性腺瘤性息肉病的情况下对散发性肝母细胞瘤进行常规筛查的必要性。
