Interpretation on genetic tumour syndromes in the 5th WHO classification of paediatric tumours: part Ⅱ
方园 1何乐健 2陈莲 3王世贤
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作者信息
1. 复旦大学附属儿科医院安徽医院（安徽省儿童医院）病理科，合肥 230051
2. 首都医科大学附属北京儿童医院病理科，北京 100045
3. 复旦大学附属儿科医院病理科，上海 201102
折叠
摘要
WHO首次出版了儿童肿瘤分类，遗传性肿瘤综合征作为其独立章节被介绍，内容涵盖儿童常见各种肿瘤易感综合征的临床病理特征、分子遗传学改变以及诊断标准等。本文结合相关文献，对其中儿童好发的5种热点综合征（神经纤维瘤病1型、痣样基底细胞癌综合征、von Hippel-Lindau综合征、家族性腺瘤性息肉病和着色性干皮病）做简要介绍和解读，以使临床及病理医师对儿童肿瘤易感综合征有更多认识和了解。 WHO firstly published the classification of paediatric tumours, in which genetic tumour syndromes were introduced as a separate chapter, covering the clinicopathological features, molecular genetic alterations, and diagnostic criteria of various tumor susceptibility syndromes common in children. This article briefly introduces and interprets 5 hotspot genetic tumour syndromes (neurofibromatosis type 1, naevoid basal cell carcinoma syndrome, von Hippel-Lindau syndrome, familial adenomatous polyposis and xeroderma pigmentosum) based on relevant literature, in order to bring new perspectives and insights to pathologists and clinicians.
Abstract
WHO firstly published the classification of paediatric tumours, in which genetic tumour syndromes were introduced as a separate chapter, covering the clinicopathological features, molecular genetic alterations, and diagnostic criteria of various tumor susceptibility syndromes common in children. This article briefly introduces and interprets 5 hotspot genetic tumour syndromes (neurofibromatosis type 1, naevoid basal cell carcinoma syndrome, von Hippel-Lindau syndrome, familial adenomatous polyposis and xeroderma pigmentosum) based on relevant literature, in order to bring new perspectives and insights to pathologists and clinicians.
关键词
世界卫生组织/儿科/肿瘤/遗传/综合征
Key words
World Health Organization/Pediatrics/Tumor/Genetics/Syndrome
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