TP53相关的儿童恶性肿瘤
TP53-Associated Pediatric Malignancies.
作者信息
Pinto Emilia M, Ribeiro Raul C, Figueiredo Bonald C, Zambetti Gerard P
机构信息
International Outreach Program, St. Jude Children's Research Hospital, Memphis, TN, USA.
出版信息
Genes Cancer. 2011 Apr;2(4):485-90. doi: 10.1177/1947601911409745.
Abstract
Although the majority of pediatric malignancies express wild-type p53, it is well established that germline TP53 mutations or functional inactivation of this pathway by other means contribute to childhood cancer. Epidemiology studies have revealed the existence of diverse inherited mutant TP53 alleles that display different levels of tumor suppressor activity, which correlate with cancer risk in terms of penetrance, age of onset, and tumor types. In this monograph, the authors describe those childhood cancers associated with functional inactivation of TP53 focusing on adrenocortical carcinoma as a model for tissues that are highly sensitive to loss of p53 activity.
摘要
虽然大多数儿科恶性肿瘤表达野生型p53，但众所周知，种系TP53突变或该通路通过其他方式的功能失活会导致儿童癌症。流行病学研究揭示了存在多种遗传突变的TP53等位基因，这些等位基因表现出不同水平的肿瘤抑制活性，这在 penetrance、发病年龄和肿瘤类型方面与癌症风险相关。在这本专著中，作者描述了那些与TP53功能失活相关的儿童癌症，重点将肾上腺皮质癌作为对p53活性丧失高度敏感的组织的模型。
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High frequency of loss of heterozygosity at 11p15 and IGF2 overexpression are not related to clinical outcome in childhood adrenocortical tumors positive for the R337H TP53 mutation.11p15杂合性缺失的高频率以及IGF2过表达与R337H TP53突变呈阳性的儿童肾上腺皮质肿瘤的临床结局无关。
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Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.在一例罕见的儿童肾上腺皮质癌和脉络丛癌中鉴定出一种新的TP53胚系突变E285V
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