Stojcev Zoran, Borun Pawel, Hermann Jacek, Krokowicz Piotr, Cichy Wojciech, Kubaszewski Lukasz, Banasiewicz Tomasz, Plawski Andrzej
Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, Poznan, 60-479, Poland.
Hered Cancer Clin Pract. 2013 Jun 1;11(1):4. doi: 10.1186/1897-4287-11-4.
Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation.
错构瘤是肿瘤样畸形,由正常组织紊乱构成,是肿瘤表现部位所特有的。错构瘤性息肉的家族性表现可见于幼年性息肉病综合征(JPS)、黑斑息肉综合征(PJS)、遗传性混合息肉病综合征(HMPS)和PTEN错构瘤肿瘤综合征(PHTS)。上述所有综合征均以常染色体显性方式遗传,在息肉的数量和定位以及消化道和其他器官发生癌症的风险方面形成了一个相当异质的群体。错构瘤性息肉病的各个综合征通常表现出相似的症状,尤其是在疾病早期,在某些情况下,它们的临床表现无法进行鉴别诊断。使用分子方法正确诊断疾病可以更早地实施治疗,因此更有效,因为随后会对表现出肿瘤转化易感性的器官进行严格监测。