Early detection of malignant thyroid nodules is crucial for effective treatment, but traditional diagnostic methods face challenges such as variability in expert opinions and limited integration of advanced imaging techniques. This prospective cohort study investigates a novel multimodal approach, integrating traditional methods with advanced machine learning techniques. We studied 181 patients who underwent fine-needle aspiration (FNA) biopsy, each contributing one nodule, resulting in a total of 181 nodules for our analysis. Data collection included sex, age, and ultrasound imaging, which incorporated elastography. Features extracted from these images included Thyroid Imaging Reporting and Data System (TIRADS) scores, elastography parameters, and radiomic features. The pathological results based on the FNA biopsy, provided by the pathologists, served as our gold standard for nodule classification. Our methodology, termed ELTIRADS, combines these features with interpretable machine learning techniques. Performance evaluation showed that a Support Vector Machine (SVM) classifier using TIRADS, elastography data, and radiomic features achieved high accuracy (0.92), with sensitivity (0.89), specificity (0.94), precision (0.89), and F1 score (0.89). To enhance interpretability, we used hierarchical clustering, shapley additive explanations (SHAP), and partial dependence plots (PDP). This combined approach holds promise for enhancing the accuracy of thyroid nodule malignancy detection, thereby contributing to advancements in personalized and precision medicine in the field of thyroid cancer research.

• Klíčová slova
• Elastography, Hierarchical clustering, Interpretable machine learning, Nodule classification, Radiomics,
• MeSH
• dospělí MeSH
• elastografie * metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory štítné žlázy diagnostické zobrazování   klasifikace   patologie   diagnóza   MeSH
• prospektivní studie MeSH
• radiomika MeSH
• senioři MeSH
• štítná žláza diagnostické zobrazování   patologie   MeSH
• strojové učení * MeSH
• support vector machine MeSH
• tenkojehlová biopsie MeSH
• uzly štítné žlázy * diagnostické zobrazování   patologie   klasifikace   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Papillary thyroid carcinoma (PTC) frequently harbors the BRAF V600E mutation. Recent research suggests that aggressive behavior in BRAF V600E+ PTC may be due to an undetected mutation in the TERT gene. This study aims to observe the clinicopathological features of BRAF V600+ PTC and correlate them with surgical treatment complications. METHODS: A retrospective analysis was conducted on the BRAF V600E+ PTC cohort from July 2019 to January 2023. The histopathological features and surgical treatment (total thyroidectomy - group A, total thyroidectomy + central block neck dissection - group B) complications were correlated. Patients with TERT and TP53 mutation were excluded. Next-generation sequencing and real-time PCR were used for genetic analysis. RESULTS: Out of 121 PTCs, 65 cases showed BRAF V600E mutation with the following features: intracapsular spread (13.8%), extracapsular spread (27.7%), extrathyroidal spread (15.4%), multifocality (26.2%), angioinvasion (12.3%), and local metastasis (27.7%). The incidence of surgical complications in group A/B was: reversible recurrent laryngeal nerve (RLN) paresis 3.7/7.1%, RLN paresis permanent 0/2.4%, paresthesia 6.8/23.8%, hypocalcemia 36.4/61.9% on day 1 and 27.3/33.3% on day 3, and bleeding 2.3/9.5%. There was no significant difference in clinicopathological features between the BRAF V600E+ and BRAF V600E- PTC groups. Group B had a significantly higher incidence of hypoacalcaemia on postoperative day 1 (p = 0.047). CONCLUSION: The BRAF V600E mutation will certainly remain important in the preoperative diagnosis of PTC. The more radical surgical procedures currently recommended may be abandoned in the future, particularly elective CLND, which has a higher risk of postoperative complications.

• Klíčová slova
• BRAF V600E, Cancer, Clinicopathologic features, Complications, Mutation, Papillary Thyroid Carcinoma (PTC), Surgery, TERT, Thyroid,
• MeSH
• dospělí MeSH
• krční disekce škodlivé účinky   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace * MeSH
• nádorový supresorový protein p53 * genetika   MeSH
• nádory štítné žlázy * genetika   chirurgie   patologie   MeSH
• papilární karcinom štítné žlázy * genetika   chirurgie   patologie   MeSH
• pooperační komplikace epidemiologie   etiologie   MeSH
• protoonkogenní proteiny B-Raf * genetika   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• telomerasa * genetika   MeSH
• tyreoidektomie * škodlivé účinky   metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• BRAF protein, human MeSH Prohlížeč
• nádorový supresorový protein p53 * MeSH
• protoonkogenní proteiny B-Raf * MeSH
• telomerasa * MeSH
• TERT protein, human MeSH Prohlížeč
• TP53 protein, human MeSH Prohlížeč

The aim of our study was to address the potential for improvements in thyroid cancer detection in routine clinical settings using a clinical examination, the American College of Radiology Thyroid Imaging Reporting and Database System (ACR TI-RADS), and fine-needle aspiration cytology (FNAC) concurrently with molecular diagnostics. A prospective cohort study was performed on 178 patients. DNA from FNA samples was used for next-generation sequencing to identify mutations in the genes BRAF, HRAS, KRAS, NRAS, and TERT. RNA was used for real-time PCR to detect fusion genes. The strongest relevant positive predictors for malignancy were the presence of genetic mutations (p < 0.01), followed by FNAC (p < 0.01) and ACR TI-RADS (p < 0.01). Overall, FNAC, ACR TI-RADS, and genetic testing reached a sensitivity of up to 96.1% and a specificity of 88.3%, with a diagnostic odds ratio (DOR) of 183.6. Sensitivity, specificity, and DOR decreased to 75.0%, 88.9%, and 24.0, respectively, for indeterminate (Bethesda III, IV) FNAC results. FNA molecular testing has substantial potential for thyroid malignancy detection and could lead to improvements in our approaches to patients. However, clinical examination, ACR TI-RADS, and FNAC remained relevant factors.

• Klíčová slova
• ACR-TIRADS, BRAF, FNAC, RAS, TERT, fusions, molecular testing, thyroid cancer, thyroid nodule,
• Publikační typ
• časopisecké články MeSH

Since Noninvasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features (NIFTP) was introduced as a new thyroid tumour entity, many studies, and meta-analyses on diagnosing NIFTP have been published. NIFTP-revised histopathological criteria emerged in 2018. NIFTP is defined as a histological entity and its diagnosis requires a careful histological examination. Its molecular profile is similar to follicular-like tumours. Ultrasound features are unable to differentiate NIFTP. NIFTP is not a cytological diagnosis, but it influences the risk of malignancy in several categories of The Bethesda System for Reporting Thyroid Cytopathology terminology.

• Klíčová slova
• Noninvasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features (NIFTP), The Bethesda System for Reporting Thyroid Cytopathology, cytology, histopathology, molecular diagnosis, thyroid gland, thyroid papillary carcinoma, ultrasound,
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

The aim of this prospective study was the validation of the risk stratification of thyroid nodules using ultrasonography with the American College of Radiology Thyroid Imaging, Reporting and Data System (ACR TI-RADS) and partly in comparison to American Thyroid Association (ATA) guidelines in a secondary referral center. Fine needle aspiration biopsy (FNA) (n=605) and histological examinations (n=63) were the reference standards for the statistical analysis. ACR TI-RADS cut-off value: TR4 with sensitivity 85.7 %, specificity 54.1 %, PPV 58.5 %, accuracy 67.7 % (AUC 0.738; p<0.001). ATA cut-off value: "high suspicion" with sensitivity 80 %, specificity 83.3 %, PPV 80 %, accuracy 81.8 % (AUC 0.800; p=0.0025). 18.4 % nodules (3 malignant) could not be assigned to a proper ATA US pattern group (p<0.0001). Both ACR TI-RADS and ATA have allowed fair selection of nodules requiring FNA with superiority of ACR TI-RADS according to classification of all thyroid nodules to the proper group. According to ACR TI-RADS almost one third of the patients were incorrectly classified with 17.9 % missed thyroid carcinomas, exclusively micropapillary carcinomas, even though, the amount of FNA would be reduced to 48 %.

• MeSH
• centra sekundární péče normy   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory štítné žlázy diagnóza   diagnostické zobrazování   chirurgie   MeSH
• prospektivní studie MeSH
• referenční standardy MeSH
• štítná žláza diagnostické zobrazování   patologie   chirurgie   MeSH
• tenkojehlová biopsie MeSH
• ultrasonografie metody   MeSH
• uzly štítné žlázy diagnóza   diagnostické zobrazování   chirurgie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH