Search Results (85)

Background: A dilated main pancreatic duct (MPD) ≥ 5 mm can be observed in main-duct IPMNs (MD-IPMN) and chronic pancreatitis (CP); however, distinguishing between the two differently treated diseases can be difficult. Cell-free (cf) DNA in MPD fluid obtained by EUS-guided FNA might help to distinguish MD-IPMN from CP. Methods: All patients with a dilated MPD ≥ 5 mm on EUS during the period of 1 June 2017 to 30 April 2024 were prospectively analysed in this single-centre study, with EUS-guided MPD fluid aspiration performed for suspected MD-IPMN or CP in patients who were suitable for surgery. Twenty-two known gastrointestinal cancer genes, including GNAS and KRAS, were analysed by deep targeted (dt) NGS. The results were correlated with resected tissue, biopsy, and long-term follow-up. Results: A total of 164 patients with a dilated MPD were identified, of which 30 (18.3%) underwent EUS-guided FNA, with 1 patient having a minor complication (3.3%). Twenty-two patients (mean MPD diameter of 12.4 (7–31) mm) with a definitive, mostly surgically confirmed diagnosis were included in the analysis. Only a fish-mouth papilla, which was present in 3 of 12 (25%) MD-IPMNs, could reliably differentiate between the two diseases, with history, symptoms, diffuse or segmental MPD dilation, presence of calcifications on imaging, cytology, and CEA in the ductal fluid failing to achieve differentiation. However, GNAS mutations were found exclusively in 11 of the 12 (91.6%) patients with MD-IPMN (p < 0.01), whereas KRAS mutations were identified in both diseases. Conclusions: GNAS testing by dtNGS in aspirated fluid from dilated MPD obtained by EUS-guided FNA may help differentiate MD-IPMN from CP for surgical resection. Full article

Background/Objectives: Thyroid nodules are commonly found through sensitive imaging methods like ultrasonography. While most nodules are benign and asymptomatic, certain characteristics may indicate malignancy, prompting fine needle aspiration biopsy. Factors like age and gender affect cancer risk, complicating ultrasound-based risk systems. We aimed to determine whether the cytological malignancy rate of thyroid nodules could be adjusted for several clinical parameters. Methods: Data from patients aged 18 and above with thyroid nodules assessed via fine needle aspiration (FNA) were retrospectively reviewed. Malignancy classification was based on cytopathology and histopathology results. The study examined how various clinical parameters, adjusted for the ACR TI-RADS category, affected thyroid nodule malignancy rates, including age, sex, Body Mass Index (BMI), nodule size, presence of autoimmunity, and thyroxine therapy. Additionally, we analyzed the performance of ACR TI-RADS in predicting malignant cytology across different age subgroups of thyroid nodules. Results: The study included 1128 thyroid nodules from 1001 adult patients, with a median age of 48 years and predominantly female (76.68%). Malignancy rates varied across ACR TI-RADS categories, with higher rates associated with larger nodules and younger age groups. Age emerged as a significant predictor of malignancy, with a consistent decrease in the odds ratio for malignant cytology with advancing age across all ACR TI-RADS categories, indicating its potential utility in risk assessment alongside nodule size and sex. Conclusions: Raising the size threshold for recommending FNA of TR3-3 nodules and incorporating patients’ age and gender into the evaluation process could enhance the system’s accuracy in assessing thyroid nodules and guiding clinical management decisions. Full article

Objectives: Oncocyte-rich indeterminate thyroid nodules (O-ITNs) present diagnostic and management challenges due to overlapping features between benign and malignant lesions and differing cytological classifications. This study aimed primarily to assess the ultrasound (US) characteristics and US-based risk of O-ITNs using the American College of Radiology Thyroid Imaging Reporting And Data Systems (ACR TI-RADS). A secondary objective was to compare the Bethesda System for Reporting Thyroid Cytopathology (BSRTC) and Italian Consensus for the Classification and Reporting of Thyroid Cytology (ICCRTC) cytological systems regarding classification and clinical management implications for O-ITNs. Methods: A retrospective study was conducted on 177 ITNs (TIR3A and TIR3B) evaluated between June 2023 and December 2024 at CTO-Alesini, Rome (Italy). Nodules were assessed with US, cytology, and histology. Oncocyte predominance was defined as >70% oncocytes on fine-needle aspiration (FNA). US features were analyzed according to ACR TI-RADS. Nodules were reclassified by BSRTC, and potential differences in clinical case management (CCM) were analyzed. Results: O-ITNs comprised 47.5% of the sample. Compared to non-O-ITNs, O-ITNs were larger and more frequently showed low-risk US features, including a higher prevalence of ACR TI-RADS 3 nodules. However, no progressive increase in the risk of malignancy (ROM) was observed across ACR TI-RADS classes within O-ITNs. Histological malignancy was identified in 47.1% of O-ITNs, a lower proportion compared to non-O-ITNs, though the difference was not statistically significant. Classification discordance with potential management impact was lower in O-ITNs (20.2%) than in non-O-ITNs (38.7%). Conclusions: O-ITNs typically exhibit benign-appearing US features and lower classification discordance between BSRTC and ICCRTC, yet US risk stratification fails to differentiate malignancy risk within O-ITNs. A tailored approach integrating cytology and cautious US interpretation is essential for optimal O-ITN management. Full article

Background/Objectives: Accurate determination of malignancy in pancreatic masses through endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is crucial for appropriate clinical management and prognostic assessment. However, the diagnostic sensitivity of conventional cytology using Papanicolaou (Pap) staining remains limited, often leading to inconclusive results. In this study, we investigated the diagnostic utility of methionyl-tRNA synthetase 1 (MARS1) through immunohistochemical (IHC) and immunofluorescence (IF) staining as a potential biomarker for pancreatic cancer. IHC analysis was conducted on resected tissue samples from 10 patients, including both pancreatic ductal adenocarcinoma and corresponding non-neoplastic pancreatic tissue. Additionally, cytologic samples were obtained from 198 patients with pancreatic masses who underwent EUS-FNA for diagnostic evaluation. Pap staining and MARS1 IF staining were performed on liquid-based cytology slides derived from EUS-FNA specimens. Results: MARS1 was detected by IHC staining in the 10 surgical specimens diagnosed with pancreatic adenocarcinomas. After Pap staining, 37 patients were excluded because of unsuitable specimens, leaving 161 patients who underwent both Pap and MARS1 IF staining. EUS-FNA specimens from the 151 patients with pancreatic ductal adenocarcinoma were classified by Pap staining as atypia (n = 36), suspicious for malignancy (n = 55), or malignancy (n = 60). MARS1 IF staining was positive in 147 of these patients and negative in 4. MARS1 IF staining distinguished pancreatic cancer in specimens with atypia on Pap staining. The sensitivity for detecting pancreatic cancer was significantly higher for MARS1 IF staining than for conventional Pap staining (97.4% vs. 79.1%, p < 0.0001). Conclusions: The high sensitivity of MARS1 IF staining improved malignancy detection in pancreatic masses. Further prospective studies are required to validate our findings. Full article

Background and Objectives: Endoscopic ultrasonography (EUS)-guided fine-needle aspiration/biopsy (FNA/B) is widely used for solid pancreatic lesions; however, the optimal number of needle punctures required to achieve high diagnostic accuracy remains unclear. This study aimed to identify the ideal number of punctures required for solid pancreatic lesions using EUS-FNA/B. Methods: This single-center retrospective study included 598 patients who underwent EUS-FNA/B for solid pancreatic lesions. We analyzed the cumulative tissue acquisition rates and diagnostic accuracy rates for cytology and histology, and identified the factors associated with diagnostic accuracy using univariate and multivariate analyses. Rapid on-site cytological evaluation was performed in all cases. Results: Cumulative tissue acquisition rates were 95.6% and 92.5% for cytology and histology, respectively. The diagnostic accuracy for cytology increased from 72.6% in the first puncture to 78.8% in the second puncture (p = 0.0233). In contrast, the diagnostic accuracy of histology increased from 72.0% at the first puncture to 83.2% at the third puncture (p = 0.0412). Statistically significant differences were noted between the first and second punctures for cytology, and between the first, second, and third punctures for histology. Univariate and multivariate analyses were conducted to identify factors associated with diagnostic accuracy. In cytology, sex was identified as a significant contributing factor, whereas no independent predictors were found in histology. Conclusions: These findings suggest that two-needle punctures are optimal for cytology, and three-needle punctures are optimal for the histological diagnosis of solid pancreatic lesions using EUS-FNA/B. Full article

Papillary thyroid carcinoma (PTC) frequently involves cervical lymph node (LN) metastases and is a major determinant of prognosis and recurrence. However, cytology alone has limitations. Fine-needle aspiration thyroglobulin (FNA-Tg) has emerged as a promising diagnostic marker, although its cutoff value remains controversial, particularly in patients with thyroglobulin antibodies (TgAbs). We retrospectively analyzed 63 LNs of 60 patients with PTC at a single medical center. Patients underwent FNA-Tg measurements and concurrent cytological evaluation. Diagnostic performance metrics, including sensitivity, specificity, positive and negative predictive value, and overall accuracy, were evaluated; the cutoff value was determined; and the potential influence of factors such as TgAb on FNA-Tg levels was investigated. A cutoff value of 4.23 ng/mL for FNA-Tg achieved 100% sensitivity and 90.2% specificity, with an overall accuracy of 93.6%. TgAb positivity did not significantly affect the diagnostic performance in patients with FNA-Tg. FNA-Tg might be useful for detecting local LN recurrence and providing valuable diagnostic insights, particularly in patients with residual thyroid tissue or positive TgAbs. Full article

Background: Oncocytic adenomas (OAs) of the thyroid, previously referred to as Hürthle cell adenomas, are uncommon tumors, particularly in pediatric populations, where they represent a minority of thyroid nodules. Due to their rarity and the potential difficulty in distinguishing benign from malignant forms on cytology, these adenomas present unique diagnostic and management challenges. Here, we report a pediatric case of a large OA of the thyroid, managed with surgical resection following inconclusive fine-needle aspiration (FNA) results. Case Presentation: A 13-year-old girl presented with an enlarging thyroid nodule. An ultrasound examination showed a large (26 × 16 mm), solid, isoechoic nodule with a hypoechoic halo. The FNA findings were inconclusive, indicating a follicular neoplasm with oncocytic features, classified as Bethesda IV. The patient underwent a hemithyroidectomy, and a histopathological examination confirmed an encapsulated OA without evidence of capsular or vascular invasion. The postoperative recovery was uneventful, and follow-up assessments showed no recurrence. Conclusions: OAs in pediatric patients are rare and may pose diagnostic challenges. This case highlights the importance of a comprehensive approach, including surgical resection, for definitive diagnoses in cases where FNA results are inconclusive. Further studies are warranted to establish guidelines for the management of oncocytic thyroid neoplasms in pediatric patients, as well as to understand their clinical behavior in this population. Full article

Background/Objectives: Mucoepidermoid carcinoma (MEC) is the most common malignant tumor of the minor salivary glands, often affecting the hard palate. Preoperative diagnosis and surgical planning are challenging due to anatomical complexity and limitations in sampling, generally obtained by fine-needle aspiration (FNA). This study retrospectively evaluated the diagnostic and therapeutic performance of a high-definition ultrasound (HDUS)-guided fine-needle aspiration cytology/biopsy (FNAC/FNAB) protocol in diagnosing intraoral MEC, based on the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC), with the relative clinical outcomes. Methods: A cohort of 64 patients with histologically confirmed MEC of the minor salivary glands, treated between 2000 and 2022, was retrospectively analyzed. All patients underwent HDUS-guided FNAC/FNAB, imaging (CT, MRI, and panoramic X-ray), and subsequent surgical treatment. The cytological specimens were classified using the MSRSGC. Surgical margins, histopathological findings, lymph node status, and follow-up outcomes were recorded. Results: Of 64 MECs, 42 cases were finally diagnosed as low-grade (LG)/intermediate grade (IG) and 22 as high-grade (HG) carcinomas, using a two-tier histological classification system. HDUS accurately delineated the lesion size, infiltration depth, and bone proximity, with excellent correlation with surgical specimens (difference ≤ 0.6 mm). MSRSGC classification distributed the cases across all categories, with 28 classified as malignant (category VI). Repeat FNAC improved the diagnostic yield in non-diagnostic and atypical cases. FNAB confirmed the cytological findings in all cases, with immunohistochemistry investigation with Ki-67 supporting tumor grading. Surgical margins were clear in all resections. Lymph node metastases were identified in all patients who underwent neck dissection (n = 18), all with HG-MEC. No recurrences occurred among the LG/IG-MEC patients during a median 2-year follow-up. Conclusions: The combined use of HDUS and FNAC/FNAB, interpreted through the MSRSGC framework, offers a highly accurate, minimally invasive approach for preoperative diagnosis and surgical planning in intraoral MEC. HDUS-guided cytology significantly improves diagnostic reliability, particularly in LG/IG and cystic variants, facilitating tailored surgical management. Also, the clinical outcomes may support the possibility of using a simplified grading classification for two histopathological types. Full article

Background/Objectives: Both adiposity and Hashimoto’s thyroiditis (HT) are states of chronic inflammation. Adiposity may increase the risk of thyroid nodules and thyroid carcinoma. However, its role in patients with HT remains unclear. The connections among thyroid nodularity, adiposity, and HT have not been explored. Aim: To investigate the impact of adiposity on thyroid nodularity in patients with HΤ and to determine whether there are any differences in the risk for thyroid cancer. Methods: This retrospective cohort study included 294 consecutive patients with HT who were categorized according to their body mass index (BMI). Grayscale ultrasound (US) and fine-needle aspiration (FNA) cytology results were evaluated in association with clinicopathological characteristics. Results: After controlling for age and gender, nodules from patients with a BMI ≥ 25 kg/m² showed significantly more suspicious or malignant cytology (Thy 4–5) compared to patients with a BMI < 25 kg/m² (27.03% vs. 18.18%; p < 0.01). Although not statistically significant after adjustments, patients with BMI ≥ 25 kg/m² demonstrated a higher proportion of nodules classified as highly suspicious on ultrasound (28.20% vs. 22.46%). Additionally, overweight and obese patients tended to have more thyroid nodules (mean ± SD: 2.91 ± 2.11) than normal-weight patients (2.36 ± 1.79), a difference approaching marginal significance (p = 0.06). Conclusions: Adiposity is associated with more suspicious and malignant cytology in patients with HT. Overweight and obese patients with HT tended to have more thyroid nodules. Further studies are needed to investigate the mechanisms linking obesity, thyroid nodules, and HT. Full article

The aim of this paper is to highlight the combined role of ultrasound elastography and contrast-enhanced ultrasound in terms of diagnosis, staging, and follow-up of the post-treatment response. Contrast-enhanced ultrasound (CEUS) and ultrasound elastography are natural extensions of conventional USs that have created new opportunities, facilitating the implementation of multiparametric ultrasounds in the characterization of thyroid nodules, in risk stratification, and in the selection of nodules that request Fine Needle Aspiration (FNA), management, and follow-up of the nodules with indeterminate cytology, evaluation of pre-operative prognostic features, and treatment efficiency. Full article

Background: Surgical intervention in asymptomatic retrosternal goiter (RSG) is debated in the absence of suspicious cytology, while performing fine-needle aspiration (FNA) is challenging in thyroids with mediastinal extension. The rate of unexpected thyroid cancers found at the time of thyroidectomy varies widely, while the notion of increased cancer incidence in RSG with respect to cervical goiters is still controversial. Methods: We retrospectively reviewed 411 patients with a preoperative diagnosis of multinodular goiter (MNG) (114 retrosternal, 297 cervical) who underwent thyroidectomy at an academic endocrine surgery referral center between January 2019 and October 2022. Rates of cancer detected on the final pathology examination, overall and not anticipated by preoperative workup, were compared between cervical MNG (cMNG) and RSG. Results: Patients with RSG were older (58.2% vs. 50.6%; p < 0.001) and more likely to be men (34.2% vs. 23%; p = 0.014). Overall, thyroid cancer was found in 49.5% of cMNG specimens and in 35.1% of RSGs (p = 0.02), and cancer > 1 cm was found in 37.4% of cMNG and 17.4% of RSG (p = 0.003). Prevalence of unexpected thyroid cancer was not significantly different between cMNGs (29.8%) and RSGs (28.8%). Unexpected carcinomas > 1 cm impacted 11% of all RSGs. Conclusions: In this study, the prevalence of unexpected thyroid cancer in RSG was similar to cMNG and significant from a clinical standpoint, with 1 in every 10 RSG diagnosed with differentiated cancer > 1 cm. Findings may be partially attributed to the difficulty in performing FNA in the mediastinum. Surgeons should counsel patients preoperatively regarding the risk of unexpected thyroid cancer to set appropriate expectations of outcome. Full article

Cytologic diagnosis of extra-adrenal paraganglioma presenting as a peripancreatic mass is challenging, with a high rate of diagnostic error. We present a case of a peripancreatic mass identified by radiology as a gastrointestinal stromal tumor. Endoscopic ultrasound-guided fine-needle aspiration (FNA) of the mass showed a moderately cellular tumor composed of small-to-medium-sized neoplastic cells with round-to-oval nuclei arranged singly and in loose clusters. The cells were positive for neuroendocrine markers (synaptophysin and chromogranin) and negative for CD117. A diagnosis of neoplasm with a neuroendocrine tumor (NET) was made based on FNA cytology. The subsequent surgical resection of the tumor revealed peripancreatic paraganglioma with immunohistochemistry positive for synaptophysin, chromogranin, and S100. The latter delineated the sustentacular cells. Although paraganglioma is a well-recognized tumor, a detailed comparison of peripancreatic paraganglioma versus pancreatic/gastrointestinal NET is still lacking. Full article

Schwannomas are benign nerve sheath tumours that exhibit a slow rate of growth. In the vast majority of cases, schwannomas manifest as asymptomatic masses. The presence of symptomatic lesions may necessitate surgical removal. The incidence of schwannomas ranges from 4.4 to 5.23 cases per 100,000 population, accounting for approximately 7% of all primary tumours in the central nervous system. There is a limited number of case reports describing schwannomas outside the central nervous system. In rare instances, schwannomas may originate at the level of the thyroid gland. In such cases, incidental neck schwannomas may be mistaken for thyroid or parathyroid tumours. The increasing incidence of thyroid cancer draws more attention to all thyroid nodules, both benign and malignant. Thyroid nodules are detected in up to 65% of autopsies, with only 4–6.5% being malignant. Thyroid tumours are typically diagnosed by USG; however, they are often revealed incidentally during neck CT or MRI for other conditions. To rule out malignancy, tumour verification is required. The modern diagnosis of thyroid cancer is based on fine-needle aspiration (FNA) biopsy and cytology, which is classified according to the Bethesda classification system. However, not all FNAs are informative, and the differential diagnosis and treatment strategies in cases of unsatisfactory results are not standardized, leading to potential intraoperative challenges. We present a case study of a patient with a thyroid nodule that was ultimately diagnosed with a schwannoma of the neck according to core-needle biopsy. Full article

The incidence of thyroid cancer is increasing worldwide. Fine-needle aspiration (FNA) cytology is widely applied with the use of extracted biological cell samples, but current FNA cytology is labor-intensive, time-consuming, and can lead to the risk of false-negative results. Surface-enhanced Raman spectroscopy (SERS) combined with machine learning algorithms holds promise for cancer diagnosis. In this study, we develop a label-free SERS liquid biopsy method with machine learning for the rapid and accurate diagnosis of thyroid cancer by using thyroid FNA washout fluids. These liquid supernatants are mixed with silver nanoparticle colloids, and dispersed in quartz capillary for SERS measurements to discriminate between healthy and malignant samples. We collect Raman spectra of 36 thyroid FNA samples (18 malignant and 18 benign) and compare four classification models: Principal Component Analysis–Linear Discriminant Analysis (PCA-LDA), Random Forest (RF), Support Vector Machine (SVM), and Convolutional Neural Network (CNN). The results show that the CNN algorithm is the most precise, with a high accuracy of 88.1%, sensitivity of 87.8%, and the area under the receiver operating characteristic curve of 0.953. Our approach is simple, convenient, and cost-effective. This study indicates that label-free SERS liquid biopsy assisted by deep learning models holds great promise for the early detection and screening of thyroid cancer. Full article

Background: Metastatic pancreatic lesions (MPLs) are relatively uncommon, constituting 2 to 5% of all pancreatic tumors. They often manifest as solitary lesions without distinct clinical symptoms, usually identified incidentally during radiologic imaging for the surveillance of prior malignancies. Differentiating these lesions from primary pancreatic tumors presents a significant challenge due to their nonspecific presentation. Methods: We aimed to prospectively assess the effectiveness of endoscopic ultrasound (EUS) and EUS-guided fine needle aspiration/biopsy (EUS-FNA/B) in diagnosing MPLs in a carefully selected cohort of patients presenting with pancreatic masses. Additionally, we sought to examine the relevance of specific EUS findings in supporting the initial diagnosis of MPLs and their agreement with the definitive cytological diagnosis. This study retrospectively analyzed data from 41 patients diagnosed with MPLs between 2013 and 2023, focusing on their clinical and pathological characteristics, the echogenic features of the pancreatic lesions, and the techniques used for tissue acquisition. Results: The incidence of MPLs in our cohort was 3.53%, with the most frequent primary tumors originating in the kidney (43.90%), colorectum (9.76%), lung (9.76%), lymphoma (9.76%), and breast (4.88%). MPLs typically presented as hypoechoic, oval-shaped lesions with well-defined borders and were predominantly hypervascular. Interestingly, 68.29% of the cases were discovered incidentally during follow-up of the primary tumors, while the involvement of the common bile duct was uncommon (19.51%). Conclusions: EUS and EUS-FNA/B have been validated as valuable diagnostic tools for identifying MPLs. While our findings are promising, further multicenter studies are necessary to corroborate these results and elucidate the predictive value of specific EUS characteristics in determining the metastatic origin of pancreatic lesions. Full article