Macerola Elisabetta, Proietti Agnese, Poma Anello Marcello, Ugolini Clara, Torregrossa Liborio, Vignali Paola, Basolo Alessio, Materazzi Gabriele, Elisei Rossella, Santini Ferruccio, Basolo Fulvio
Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, 56126 Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Cancers (Basel). 2021 Jun 22;13(13):3123. doi: 10.3390/cancers13133123.
Papillary thyroid carcinoma (PTC) presents distinct clinico-pathological and molecular differences in children compared with adult patients. Whether the presence of rearrangements or point mutations is associated with aggressive PTC clinical presentation is still controversial. In this study, PTCs diagnosed in patients aged less than 18 years were retrospectively searched from the institutional archive and tumor tissue was tested for point mutations in and genes and for rearrangements in , , , , , and . A total of 163 PTCs were analyzed. Point mutations were found in 83 (51%) and gene fusions in 48 cases (30%). The most frequent alteration was the mutation (36.8%), followed by fusion (11%), mutation (10.4%) and fusion (10.4%). Fusion-driven PTCs showed more frequently infiltrative growth, larger tumors, extrathyroidal extension and N1b disease. PTCs showing solid growth pattern were significantly enriched in gene fusions. This is one of the largest cohorts of pediatric PTCs. Fusion-driven tumors most frequently show aggressive pathological features; the search for rearrangements, especially in tumors with solid areas, could improve the characterization of pediatric PTCs and offer possible therapeutic options.
与成年患者相比，儿童甲状腺乳头状癌（PTC）呈现出明显的临床病理和分子差异。重排或点突变的存在是否与侵袭性PTC临床表现相关仍存在争议。在本研究中，从机构档案中回顾性检索了18岁以下患者诊断的PTC，并对肿瘤组织进行了 和 基因的点突变检测以及 、 、 、 、 和 的重排检测。共分析了163例PTC。83例（51%）发现点突变，48例（30%）发现基因融合。最常见的改变是 突变（36.8%），其次是 融合（11%）、 突变（10.4%）和 融合（10.4%）。融合驱动的PTC更常表现为浸润性生长、肿瘤较大、甲状腺外扩展和N1b期疾病。表现为实性生长模式的PTC在基因融合中显著富集。这是最大的儿童PTC队列之一。融合驱动的肿瘤最常表现出侵袭性病理特征；寻找重排，特别是在有实性区域的肿瘤中，可能会改善儿童PTC的特征描述并提供可能的治疗选择。
