Galuppini Francesca, Vianello Federica, Censi Simona, Barollo Susi, Bertazza Loris, Carducci Sofia, Colato Chiara, Manso Jacopo, Rugge Massimo, Iacobone Maurizio, Watutantrige Fernando Sara, Pennelli Gianmaria, Mian Caterina
Pathology Unit, Department of Medicine (DIMED), Padova University Hospital, Padova, Italy.
Department of Women's and Children's Health, Padova University Hospital, Padova, Italy.
Front Endocrinol (Lausanne). 2019 Aug 7;10:552. doi: 10.3389/fendo.2019.00552. eCollection 2019.
Follicular-derived differentiated thyroid carcinoma (DTC) is the most common endocrine and epithelial malignancy in children. The differences in the clinical and pathological features of pediatric vs. adult DTC could relate to a different genetic profile. Few studies are currently available in this issue, however, and most of them involved a limited number of patients and focused mainly on radiation-exposed populations. We considered 59 pediatric patients who underwent surgery for DTC between 2000 and 2017. rearrangement was investigated with fluorescent hybridization and real-time polymerase chain reaction. Sequencing was used to analyze mutations in the genes, and the promoter. The pediatric patients' clinical and molecular features were compared with those of 178 adult patients. In our pediatric sample, male gender and age <15 years coincided with more extensive disease and more frequent lymph node and distant metastases. Compared with adults, the pediatric patients were more likely to have lymph node and distant metastasis, and to need second treatments ( < 0.01). In all, 44% of the pediatric patients were found to carry molecular alterations. rearrangement was confirmed as the most frequent genetic alteration in childhood DTC (24.6%) and correlated with aggressive features. was only identified in 16% of the pediatric DTCs, while NRASQ61R, NRASQ61K, and TERTC250T mutations were very rare. Pediatric DTC is more aggressive at diagnosis and more likely to recur than its adult counterpart. Unlike the adult disease, point mutations have no key genetic role.
滤泡源性分化型甲状腺癌（DTC）是儿童中最常见的内分泌和上皮性恶性肿瘤。儿童与成人DTC临床和病理特征的差异可能与不同的基因谱有关。然而，目前关于这个问题的研究很少，而且大多数研究涉及的患者数量有限，主要集中在受辐射人群。我们纳入了2000年至2017年间接受DTC手术的59例儿科患者。采用荧光原位杂交和实时聚合酶链反应研究重排情况。测序用于分析相关基因和启动子中的突变。将儿科患者的临床和分子特征与178例成人患者的进行比较。在我们的儿科样本中，男性和年龄<15岁与疾病范围更广、淋巴结和远处转移更频繁相关。与成人相比，儿科患者更易发生淋巴结和远处转移，且需要二次治疗（P<0.01）。总体而言，发现44%的儿科患者存在分子改变。重排被确认为儿童DTC中最常见的基因改变（24.6%），并与侵袭性特征相关。仅在16%的儿科DTC中检测到，而NRAS Q61R、NRAS Q61K和TERT C250T突变非常罕见。儿科DTC在诊断时更具侵袭性，且比成人DTC更易复发。与成人疾病不同，点突变没有关键的遗传作用。
