Table_6_Molecular and clinical features of papillary thyroid cancer in adult patients with a non-classical phenotype.xlsx

PurposeGenotyping is fundamental in papillary thyroid cancer (PTC) and helps to enhance diagnosis and prognosis and determine appropriate treatments. The phenotype-genotype association in PTC was previously studied, with BRAF V600E characterizing classic PTC and tall-cell PTC and RAS mutations characterizing follicular-variant PTC. In clinic, some non-classical histological subtypes of PTC were also identified, however, their genotype remains unclear. In this study, we collected samples of these non-classical PTC after the exclusion of classic phenotypes and examined their phenotypes, genotype and the relationship between phenotype and genotype.MethodsWe screened out non-classical PTC by excluding classical PTC from 1,059 different thyroid samples, and a total of 24 cases was obtained and described from the morphological features, which is rare in differentiated PTC. DNA/RNA sequencing was performed using 18 available samples to describe the genetic features.ResultsPTC with the non-classical phenotype were characterized cuboidal to low columnar tumor cells with subtle nuclear features of PTC and without discernible nuclear elongation, concurrently with dense microfollicles, delicate papillae or solid nodules with delicate fibrovascular cores. They were associated with lymphatic vessel invasion (P

目的：基因分型在乳头状甲状腺癌（PTC）的研究中至关重要，它有助于提升诊断与预后评估，并确定适宜的治疗方案。既往研究已对PTC中的表型-基因型关联进行了探讨，其中BRAF V600E突变表征了经典型PTC及高细胞型PTC，而RAS突变则与滤泡变型PTC相关。在临床实践中，亦已识别出一些非经典型PTC的病理亚型，然而，其基因型仍待明确。本研究中，我们在排除经典表型的基础上，收集了这些非经典型PTC的样本，并对其表型、基因型及其与表型-基因型之间的关联进行了研究。方法：通过从1,059例不同甲状腺样本中排除经典型PTC，筛选出非经典型PTC，共获得24例，其形态学特征在分化型PTC中较为罕见。利用18个可用样本进行了DNA/RNA测序，以描述其遗传特征。结果：具有非经典表型的PTC以立方形至低柱状肿瘤细胞为特征，核特征微妙，无明显的核伸长，伴随密集的微滤泡、细腻的乳头状结构或具有细腻的纤维血管核心的实性结节。这些特征与淋巴管侵犯相关（P