Table_5_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

本研究旨在探究滤泡状甲状腺癌（PTC）的基因分型，这对于提升诊断、预后评估以及确定治疗方案具有重要意义。先前的研究已对PTC中的表型-基因型关联进行了探讨，其中BRAF V600E突变是经典PTC和柱状细胞PTC的标志性特征，而RAS突变则是滤泡变异型PTC的特征。在临床实践中，还识别出一些非经典的组织学亚型，然而，它们的基因型尚不明确。在本研究中，我们从排除经典表型的1059个不同甲状腺样本中收集了这些非经典PTC样本，并从形态学特征描述了其中24例，这些特征在分化型PTC中较为罕见。通过18个样本的DNA/RNA测序，对遗传特征进行了描述。结果显示，具有非经典表型的PTC表现为立方形至低柱状肿瘤细胞，具有PTC的细微核特征，且无明显的核伸长，同时伴有密集的微滤泡、细腻的乳头或具有细腻纤维血管核心的实性结节。这些特征与淋巴管侵犯相关（P