乳头状甲状腺癌的基因图谱与核结构：儿科与成人人群比较概述
Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: An Overview Comparing Pediatric and Adult Populations.
作者信息
Rangel-Pozzo Aline, Sisdelli Luiza, Cordioli Maria Isabel V, Vaisman Fernanda, Caria Paola, Mai Sabine, Cerutti Janete M
机构信息
Cell Biology, Research Institute of Oncology and Hematology, University of Manitoba, CancerCare Manitoba, Winnipeg, MB R3E 0V9, Canada.
Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo/EPM, São Paulo SP 04039-032, Brazil.
出版信息
Cancers (Basel). 2020 Oct 27;12(11):3146. doi: 10.3390/cancers12113146.
Thyroid cancer is a rare malignancy in the pediatric population that is highly associated with disease aggressiveness and advanced disease stages when compared to adult population. The biological and molecular features underlying pediatric and adult thyroid cancer pathogenesis could be responsible for differences in the clinical presentation and prognosis. Despite this, the clinical assessment and treatments used in pediatric thyroid cancer are the same as those implemented for adults and specific personalized target treatments are not used in clinical practice. In this review, we focus on papillary thyroid carcinoma (PTC), which represents 80-90% of all differentiated thyroid carcinomas. PTC has a high rate of gene fusions and mutations, which can influence the histologic subtypes in both children and adults. This review also highlights telomere-related genomic instability and changes in nuclear organization as novel biomarkers for thyroid cancers.
甲状腺癌在儿科人群中是一种罕见的恶性肿瘤，与成人相比，它与疾病侵袭性和晚期疾病阶段高度相关。儿科和成人甲状腺癌发病机制背后的生物学和分子特征可能是临床表现和预后差异的原因。尽管如此，儿科甲状腺癌的临床评估和治疗与成人相同，临床实践中并未使用特定的个性化靶向治疗。在本综述中，我们重点关注乳头状甲状腺癌（PTC），它占所有分化型甲状腺癌的80-90%。PTC具有较高的基因融合和突变率，这会影响儿童和成人的组织学亚型。本综述还强调了端粒相关的基因组不稳定性和核组织变化作为甲状腺癌的新型生物标志物。
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