Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance:: results of a clinical study of PTEN mutation carriers
Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance:: results of a clinical study of PTEN mutation carriers
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DOI：
10.1136/jmg.2007.049981
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发表时间：
2007-09-01
影响因子：
4
通讯作者：
Temple, I. K.
中科院分区：
文献类型：
--
作者：
Lachlan, K. L.;Lucassen, A. M.;Temple, I. K.
背景资料：在具有PTEN突变的患者中描述的最常报告的表型是Bannayan-Riley-Ruvalcaba综合征（BRRS），具有儿童期发作、大头畸形、脂肪瘤和发育迟缓，以及Cowden综合征（CS），一种通过粘膜皮肤体征识别的成人发作病症，具有癌症风险，特别是甲状腺和乳腺癌。BRRS和CS被认为是同一种疾病，但文献继续将它们分开，并寻求基因型-表型相关性。目的：研究已知PTEN突变患者的临床特征，观察基因型-表型相关性。总共有42人（25先证者和17非先证者）来自26个家庭的所有年龄与PTEN突变招募通过英国临床遗传学服务。一个完整的临床病史和检查进行了undertaked.Results：我们无法证明基因型-表型相关性。此外，我们的研究结果在一个31岁的妇女CS和外显子1缺失驳斥了以前的报告，整个外显子缺失只发现在患者的BRRS phenotype.Conclusion：仔细的表型分析提供了进一步的支持，BRRS和CS实际上是一个条件，在不同的年龄，在其他肿瘤抑制疾病，如神经纤维瘤病1型。这对诊断患有BRRS的儿童具有重要的咨询意义，例如有关癌症监测的建议。
Background: The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in particular those of the thyroid and breast. It has been suggested that BRRS and CS are the same condition, but the literature continues to separate them and seek a genotype-phenotype correlation.Objective: To study the clinical features of patients with known PTEN mutations and observe any genotype phenotype correlation.Methods: In total, 42 people (25 probands and 17 non-probands) from 26 families of all ages with PTEN mutations were recruited through the UK clinical genetics services. A full clinical history and examination were undertaken.Results: We were unable to demonstrate a genotype-phenotype correlation. Furthermore, our findings in a 31-year-old woman with CS and an exon 1 deletion refutes previous reports that whole exon deletions are only found in patients with a BRRS phenotype.Conclusion: Careful phenotyping gives further support for the suggestion that BRRS and CS are actually one condition, presenting variably at different ages, as in other tumour-suppressor disorders such as neurofibromatosis type 1. This has important counselling implications, such as advice about cancer surveillance, for children diagnosed with BRRS.