关键词: AGK-BRAF BRAFV600E Papillary thyroid carcinoma RET/PTC genomic instability nuclear architecture pediatric

来  源:   DOI:10.3390/cancers12113146   PDF(Sci-hub)   PDF(Pubmed)

Abstract:
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.
摘要:
甲状腺癌是儿科人群中罕见的恶性肿瘤,与成人人群相比,与疾病侵袭性和晚期疾病阶段高度相关。儿童和成人甲状腺癌发病机制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,用于小儿甲状腺癌的临床评估和治疗与用于成人的评估和治疗相同,在临床实践中未使用特定的个性化目标治疗.在这次审查中,我们专注于甲状腺乳头状癌(PTC),占所有分化型甲状腺癌的80-90%。PTC基因融合和突变率高,这可以影响儿童和成人的组织学亚型。这篇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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