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Endocrine Unit, Azienda Ospedaliero-Universitaria di Ferrara, Cona/Ferrara, Italy
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interest. The somatic BRAF V600E mutation has a consolidated diagnostic role [ 5 , 6 ], but its prognostic role is debatable. BRAF V600E correlates with many clinical and pathological PTC characteristics associated with high recurrence risk (HRR) and
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). Most cases of MTC carry mutations in the proto-oncogene known as rearranged during transfection ( RET ), which can be either germline (in ≥95% of patients with hereditary MTC) or somatic (in about half of cases of sporadic MTC) ( 5 , 8 , 9 , 10 , 11
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goiter. What Is the Evidence that Molecular FNA Diagnostics by Analyzing a Panel of Somatic Mutations Can Alter the Follow-Up? It is commonly accepted that positive rule-in tests constitute an indication for surgery due to a substantial risk
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) secretion, leading to paraneoplastic Cushing’s syndrome. Mutations of the proto-oncogene RET mutations are driver molecular events in 70% of MTC cases ( 1 ). More than half of sporadic MTC exhibit somatic RET mutation in tumor cells, and nearly all
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, indicating a relatively high level of this oxidizing agent in the thyroid gland. More recently, the observation that somatic mutations are present in higher levels in the rat thyroid gland has further confirmed that the thyrocyte is under oxidative stress [ 5
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Department of Human Genetics, McGill University, Montreal, Québec, Canada
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Department of Human Genetics, McGill University, Montreal, Québec, Canada
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brother (who was unaffected), and 2 cousins (one of whom was unaffected and the other had PPB type I) were also heterozygous for the germline DICER1 variant (Fig. 1 ). A second somatic DICER1 RNase IIIb hotspot mutation(c.5438A>G, p.E1813G) was
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Papillary and follicular thyroid carcinomas (PTC and FTC) are prominent malignancies that originate from thyroid follicular cells. PTC is usually diagnosed via preoperative cytology, and large tumor size, clinical node metastasis, and distant metastasis constitute preoperative prognostic factors. Gross extrathyroidal and extranodal tumor extensions have a significant prognostic impact, are evaluated intraoperatively, and are useful for determining the extent of surgery. Aggressive variants, such as tall cell and hobnail variants, a high Ki-67 labeling index (LI), and somatic gene mutations are prognostic factors in postoperative pathological and molecular examinations. In contrast, FTC is generally diagnosed based on the postoperative pathology. Large tumor size and M factors have prognostic value; however, the findings of pathological examinations are very important. FTCs are classified as minimally invasive, encapsulated angioinvasive, and widely invasive FTCs. Widely invasive FTC with vascular invasion (VI) and encapsulated angioinvasive FTCs with extensive VI have a poor prognosis, whereas widely invasive FTC without VI has an excellent prognosis, which is similar to that of minimally invasive FTC. This indicates that VI is a considerably more important prognostic marker than capsular invasion. For postoperative follow-up, dynamic markers such as the thyroglobulin-doubling rate (DR), metastatic tumor volume-DR, and change in neutrophil-to-lymphocyte ratio are important and are useful for evaluating the effectiveness of treatments, such as radioactive iodine therapy and molecular targeted therapy, for recurrent lesions. For clinicians, it is important to accurately evaluate prognostic markers of PTC and FTC in the pre-, intraoperative, and postoperative phases.
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Medullary thyroid carcinoma (MTC) is a rare but aggressive thyroid tumor, with 25% of hereditary and 75% of sporadic forms. RET mutations are found in 98% of hereditary MTC and in 55% of sporadic MTC ( 1 ). The most frequent somatic RET
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. Somatic point mutations that occur in the BRAF gene, which encodes serine/threonine protein kinase involved in this cascade, represent a significant genetic event in PTC [ 3 ]. Among these, the most common BRAF alteration is the V600E mutation (BRAF V600E
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Medical Education Center, Hamamatsu University School of Medicine, Shizuoka, Japan
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Department of Pharmacology, Hamamatsu University School of Medicine, Shizuoka, Japan
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common somatic mutation in papillary thyroid carcinoma). What Does This Case Report Add? • We identified concurrent BRAF mutation and TSHR polymorphism for the first time in a case of hyperfunctioning malignant thyroid nodule. • The findings
