In silico annotation of follicular thyroid neoplasm associated metabolic pathways and involved biomarkers: An aid to diagnosis

IF 0.5 Q4 GENETICS & HEREDITY Human Gene Pub Date : 2024-03-12 DOI:10.1016/j.humgen.2024.201275
Manisha Ray , Mukund Namdev Sable , Saurav Sarkar
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Abstract

The follicular thyroid neoplasm (FTN) is like an unsolved puzzle at some stage in preoperative diagnosis. Usually, for preliminary characterization of thyroid lesions, clinicians depend much on fine-needle aspiration cytology (FNAC). However, in the case of FTN, FNAC cannot distinguish between benign and malignant entities, as both are exhibiting predominant follicular architecture. Cytological/ architectural/ or cellular criteria alone is not enough to differentiate Follicular adenoma (FA), Follicular thyroid carcinoma (FTC), Follicular variant of papillary thyroid carcinoma (FVPTC) together with Non-Invasive Follicular variant of Papillary Thyroid Carcinoma (NIFTP), Encapsulated FVPTC (EFVPTC) and well-differentiated neoplasm of uncertain malignant potential. Thus, the genetic analysis can be used as a novel diagnostic approach that should be applied with the traditional method for easy diagnosis of follicular thyroid neoplasm, which reduces the risk of unnecessary surgeries. This present study tried to explore the current genetic assessment of FTN through review of the genetics of FTN studied from 2009 to 2019 which showed the characterization of differential gene expression in these follicular neoplasms some extent. Also, pathway analysis has potentially implemented to minimize the diagnosis dilemma. In addition to the previously identified pathways and associated target genes, some novel endocrine cancer-related pathways with putative target genes of FTN have been remoted from characterizing tumor with follicular pattern. The observed genes might be considered as diagnostic biomarker in the respective FTN associated metabolic pathways.

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甲状腺滤泡性肿瘤相关代谢途径和相关生物标志物的硅学注释:辅助诊断
甲状腺滤泡性肿瘤(FTN)在术前诊断的某些阶段就像一个未解之谜。通常,临床医生对甲状腺病变的初步定性主要依赖于细针穿刺细胞学检查(FNAC)。然而,在甲状腺滤泡性结节的病例中,细针穿刺细胞学检查无法区分良性和恶性实体,因为两者都以滤泡结构为主。仅凭细胞学/结构/或细胞学标准还不足以区分滤泡性腺瘤(FA)、滤泡性甲状腺癌(FTC)、甲状腺乳头状癌滤泡变异型(FVPTC)以及甲状腺乳头状癌非侵袭性滤泡变异型(NIFTP)、包裹性甲状腺乳头状癌(EFVPTC)和恶性程度不确定的分化良好的肿瘤。因此,基因分析可作为一种新型诊断方法,与传统方法一起应用,可轻松诊断甲状腺滤泡性肿瘤,从而降低不必要的手术风险。本研究试图通过回顾2009年至2019年期间对甲状腺滤泡性肿瘤遗传学的研究,探索目前对甲状腺滤泡性肿瘤的遗传学评估,这些研究在一定程度上显示了这些滤泡性肿瘤中不同基因表达的特征。此外,路径分析也有可能使诊断困境最小化。除了之前确定的通路和相关靶基因外,一些新的内分泌癌症相关通路和FTN的假定靶基因也从具有滤泡模式的肿瘤特征中分离出来。这些观察到的基因可被视为与 FTN 相关的代谢途径中的诊断生物标志物。
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来源期刊
Human Gene
Human Gene Biochemistry, Genetics and Molecular Biology (General), Genetics
CiteScore
1.60
自引率
0.00%
发文量
0
审稿时长
54 days
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