<i>BRAF</i><i>V600E</i> mutation is associated with aggressive features in papillary thyroid carcinomas ≤ 1.5 cm

Silver, Jennifer A; Bogatchenko, Mariya; Pusztaszeri, Marc; Forest, Véronique-Isabelle; Hier, Michael P.; Yang, Ji Wei; Tamilia, Michael; Payne, Richard J.

doi:10.1186/s40463-021-00543-9

Cited by 24 publications

(22 citation statements)

References 43 publications

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“…The genotype-phenotype correlation between two groups of mutations and the morphologic features of differentiated thyroid cancers has been explored in multiple molecular studies [ 18 , 20 , 31 , 32 , 33 , 34 , 35 , 36 , 37 ] ( Figure 1 ). Both groups are activating the MAPK pathway but do so to different degrees.…”

Section: Molecular Markersmentioning

confidence: 99%

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Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Rajab

Payne

Forest

et al. 2022

Cancers

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In the past few decades, molecular characterization of thyroid cancer has made significant progress and is able to identify thyroid-cancer-related molecular markers that can then be applied clinically for improved decision making. The aim of this review is to provide a general overview about the molecular markers (mutations and alterations) of thyroid cancers, present several molecular tests, and discuss the clinical applications of identifying these markers supported by the clinical experience of several high-volume thyroid cancer specialists at the McGill university hospitals in Montreal, Canada. Our group experience showed that molecular testing can reclassify more than half of the patients with indeterminate thyroid nodules (Bethesda III and IV) into benign and spare these patients from unnecessary diagnostic surgery. Furthermore, it can help optimize the initial management in thyroid cancers with no evidence of high risk of recurrence of disease preoperatively. While routine molecular testing is not firmly established for thyroid FNA specimens that are suspicious or positive for malignancy (Bethesda V and VI), knowledge of a thyroid nodule’s molecular risk group profile in such cases, together with its clinical and radiologic features, can help select the optimal surgical options (lobectomy versus upfront total thyroidectomy and central neck dissection), as demonstrated by our studies.

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Section: Molecular Markersmentioning

confidence: 99%

“…Two studies were conducted to analyze the relation of the nodule size to the BRAF V600E mutation. In both studies, the presence of a BRAF V600E mutation in the nodules was associated with aggressive features regardless of the size of the nodule [ 36 , 37 ].…”

Section: Clinical Utility and Our Group’s Experiencementioning

confidence: 99%

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Rajab

Payne

Forest

et al. 2022

Cancers

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“…Among these alterations, BRAF mutations occur most frequently in PTC ( 73 – 75 ). Some studies proved that the BRAF V600E mutation plays a part in the biological behaviors of PTMC (≤ 1 cm) and small PTC (1–1.5 cm) ( 76 ). However, the correlation between these alterations and iodine intake remains controversial ( 77 ).…”

Section: Iodine Intake and Combined Factorsmentioning

confidence: 99%

Iodine nutrition and papillary thyroid cancer

Zhang

Zhang²,

Li³

et al. 2022

Front. Nutr.

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Thyroid cancer (TC) is the most frequent endocrine malignancy. The incidence of TC, especially papillary thyroid carcinoma (PTC), has continued to rise all over the world during the past few years, for reasons that are not entirely clear. Though the phenomenon of overdiagnosis is occurring, it is not the sole driver of the substantial increase in incidence. Lifestyle, environmental factors, or complications are considered to be potential risk factors. Among these factors, iodine is a micronutrient that is vital to thyroid function. The effect of iodine intake on PTC has been controversial for many years and the epidemiological or experimental studies provided diametrically opposite conclusions. Combining all these studies, we found that iodine nutrition may affect the overall prevalence, distribution of the histological types, and clinicopathological aggressiveness of TC, especially PTC. However, the available evidence is poor due to the impact of various internal and external related factors. Therefore, this article sums up available results from both epidemiological and experimental studies, future studies are also warranted to expound on the relationship between overall PTC prevalence and iodine intake.

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“…However, it has been difficult to accurately distinguish the difference between the survival outcomes in PTCs with similar clinicopathological features [9,10]. A number of prior studies have proposed that combining BRAF, TERT, and RAS mutations with TNM staging can lead to better prediction of the prognosis of PTC patients [11][12][13]. Our team has previously constructed an integrated nomogram based on clinicopathological factors and the related risk scores, which showed significantly better predictive performance than AJCC stage [14][15][16].…”

Section: Introductionmentioning

confidence: 99%

A Potential Four-Gene Signature and Nomogram for Predicting the Overall Survival of Papillary Thyroid Cancer

et al. 2022

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Background. Although the prognosis of papillary thyroid cancer (PTC) is relatively good, some patients experience recurrence or distant metastasis after thyroidectomy and progress to radioactive iodine refractory stage. Therefore, accurate prediction of clinical outlook can aid to screen out the minority of patients with poorer prognosis and avoid excessive treatment in low-risk patients. Methods. The RNA-seq and clinical data of PTC patients was downloaded from the Gene Expression Omnibus (GEO) and the Cancer Genome Atlas (TCGA) databases. Multivariate and Lasso Cox regression analyses were used to construct a prognostic nomogram to predict overall survival (OS). Thereafter, quantitative RT-PCR and Human Protein Atlas (HPA) database were employed to verify the expression of key genes. Results. A four-gene risk score comprising ABI3BP, DPT, MRO, and TENM1 was exhibited strong prognostic value. Moreover, an integrated nomogram was established based on the risk score, age, AJCC (American Joint Commission on Cancer) stage, tumor size, extrathyroidal extension, and history of neoadjuvant treatment, which exhibited significantly better predictive performance than TNM stage system ( P < 0.05 ). GSEA (Gene Set Enrichment Analysis) and GSVA (Gene Set Variation Analysis) revealed that the different tumor-associated hallmarks, biological processes, and pathways were substantially enriched in the poor-prognosis group. In addition, a ceRNA network was constructed by including the four genes (ABI3BP, DPT, MRO, and TENM1), 54 lncRNAs, and 10 miRNAs. Finally, both the relative mRNA and protein expression of ABI3BP, DPT, MRO, and TENM1 were validated. Conclusion. The present study identified a four-gene risk signature and developed a novel nomogram, which could be regarded as a reliable prognostic model for PTC patients. The findings also revealed preliminary potential mechanisms that may influence the prognosis outcome. These results can be conducive to design personalized treatment and prognosis management in affected patients.

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BRAFV600E mutation is associated with aggressive features in papillary thyroid carcinomas ≤ 1.5 cm

Cited by 24 publications

References 43 publications

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Iodine nutrition and papillary thyroid cancer

A Potential Four-Gene Signature and Nomogram for Predicting the Overall Survival of Papillary Thyroid Cancer

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