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Purpose: To investigate the value of Korean, American, and Chinese ultrasound risk stratification systems combined with BRAF(V600E) mutation in the detection of papillary thyroid carcinoma (PTC)within cytologically indeterminate thyroid nodules (CITNs)., Methods: A single-center retrospective study encompassed 511 CITNs selected from 509 patients between January 2020 and July 2023.Each nodule underwent surgical treatment and was classified according to three distinct systems. Receiver operating characteristic (ROC) curves were plotted using histopathological diagnosis as the reference standard, and diagnostic performance was compared., Results: The three ultrasound stratification systems showed an elevated malignant risk with increasing grades (all P for trend 2  < 0.001). The cut-off values for Korean, American, and Chinese systems were 5, 5, and 4c, and their respective area under the curves (AUCs) were 0.735, 0.778, and 0.783.The combination of BRAF (V600E) mutation significantly enhanced the diagnostic efficacy for the Korean(0.773vs0.735, P < 0.001), American (0.809vs0.778, P < 0.001) and Chinese (0.815vs0.783, P < 0.001) stratification systems in distinguishing CITNs without compromising specificity. When the three stratification systems were applied individually or combined with BRAF (V600E) mutation, the AUCs of the American and Chinese systems were similar (all P > 0.05), both of which were higher than the AUC of the Korean system (all P < 0.05). The American system exhibited higher specificity compared to the Chinese and Korean systems (all P < 0.001), whereas the Chinese system demonstrated higher sensitivity and accuracy when compared to the American and Korean systems (all P < 0.001)., Conclusion: Korean, American and Chinese stratification systems present potential in the differential diagnosis of CITNs. BRAF (V600E) mutation can significantly improve the detection rate of malignant nodules within CTNs, particularly PTC. Notably, the American and Chinese systems demonstrate superior overall diagnostic performance among these systems., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Context: Thyroid nodules are very common, and 7% to 15% of them are diagnosed as thyroid cancer. However, the inherited genetic risk factors for thyroid nodules and their associations with thyroid cancer remain unknown., Objective: To identify the genetic variants associated with susceptibility to thyroid nodules in comparison with thyroid cancer., Design and Setting: We performed a three-stage genome-wide association study for thyroid nodules. The discovery stage involved a genome-wide scan of 811 subjects with thyroid nodules and 691 subjects with a normal thyroid from a population-based cohort. Replication studies were conducted in an additional 1981 cases and 3100 controls from the participants of a health checkup. We also performed expression quantitative trait loci analysis of public data., Results: The most robust association was observed in TRPM3 (rs4745021) in the joint analysis (OR, 1.26; P = 6.12 × 10-8) and meta-analysis (OR, 1.28; P = 2.11 × 10-8). Signals at MBIP/NKX2-1 were replicated but did not reach genome-wide significance in the joint analysis (rs2415317, P = 4.62 × 10-5; rs944289, P = 8.68 × 10-5). The expression quantitative trait loci analysis showed that TRPM3 expression was associated with the rs4745021 genotype in thyroid tissues., Conclusions: To the best of our knowledge, we have performed the first genome-wide association study of thyroid nodules and identified a susceptibility locus associated with thyroid nodules, suggesting that thyroid nodules have a genetic predisposition distinct from that of thyroid cancer.

Background: The cribriform-morular variant of papillary thyroid carcinoma (cmvPTC) is rare. There are few if any studies of the ultrasonographic (US) features of cmvPTC. The aim of this study was to determine the characteristic US and clinical features of the cmvPTC., Methods: A retrospective review of the US and clinical features was performed on 18 surgically confirmed cmvPTCs in five patients who were seen at our institution between January 2000 and December 2010., Results: All patients were female with a mean age of 28 years (range, 19-46 years). Two patients presented with palpable lesions, and the other patients were incidentally detected during screening US. On US, the majority of nodules had well-defined, oval to round shapes, and were hypoechoic and solid without calcifications. However, 6 (33.3%) of 18 nodules did have a cystic change. The size of the lesions varied from 0.3 to 3.0 cm (mean, 1.11 cm). None of the nodules were diagnosed as malignant based on the US criteria, but all except one patient had a cytology of their thyroid nodules that was read as malignant, without revealing the subtype of their PTC. Two of the five patients had familial adenomatous polyposis (FAP), and they had bilateral multiple nodules. No metastatic lymph nodes or extrathyroidal extension were identified. To date, none of the patients has had recurrence or metastasis during their mean follow-up of 25 months after thyroidectomy., Conclusion: It appears that most cases of cmvPTC do not have features of malignancy on US and that they are indolent tumors as far as their clinical and histological features are concerned.

Context: In Korea, where PTC comprises about 90-95% of the reported thyroid cancers, the prevalence of BRAF(V600E) mutation in papillary thyroid carcinoma (PTC) is above 80%., Objective: We analyzed the surgical result according to a management guideline based on the BRAF(V600E) mutation status of thyroid nodules., Design: A total of 865 thyroid nodules were prospectively analyzed for their cytology and BRAF(V600E) mutation status by pyrosequencing. For the patients who had a diagnosis of atypical cells of undetermined significance (ACUS), we recommended surgery when there was positivity for BRAF(V600E) mutation or the nodules were clinically suspicious., Results: Among 865 cases, 504, 141, 54, 140, 10, and 16 were diagnosed as benign, ACUS, suspicious for malignancy, malignant, suspicious for follicular neoplasm, and nondiagnostic, respectively. None of the 504 benign, 45 (31.9%) of the 141 ACUS, 46 (85.2%) of the 54 suspicious for malignancy, 129 (92.1%) of the 140 malignant, and one (10%) of the 10 suspicious for follicular neoplasm cases showed BRAF(V600E) mutation. Surgery was recommended to all 45 patients with BRAF(V600E) mutation-positive ACUS nodules; among them, 30 patients underwent surgery, 29 had PTC, and one had nodular hyperplasia. All the patients diagnosed as suspicious for malignancy or malignant were advised to undergo an operation, and they turned out to have PTCs regardless of their BRAF(V600E) mutation status., Conclusions: We found that performing BRAF(V600E) mutation analysis on the fine-needle aspiration biopsy specimens was of great help to make a therapeutic decision for thyroid nodules when the fine-needle aspiration biopsy results were equivocal.