Context:Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.Objectives:We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTCs).Design:This was a retrospective observational study.Setting and Patients:We studied 647 tumors and tumor-like lesions. A total of 469 patients with FCDTC treated and followed in five university hospitals were included. Mean follow-up (±SD) was 7.8 ± 5.8 years.Main Outcome Measures:Predictive value of TERT promoter mutations for distant metastasization, disease persistence at the end of follow-up, and disease-specific mortality.Results:TERT promoter mutations were found in 7.5% of papillary carcinomas (PTCs), 17.1% of follicular carcinomas, 29.0% of poorly differentiated carcinomas, and 33.3% of anaplastic thyroid carcinomas. Patients with TERT-mutated tumors were older (P < .001) and had larger tumors (P = .002). In DTCs, TERT promoter mutations were significantly associated with distant metastases (P < .001) and higher stage (P < .001). Patients with DTC harboring TERT promoter mutations were submitted to more radioiodine treatments (P = .009) with higher cumulative dose (P = .004) and to more treatment modalities (P = .001). At the end of follow-up, patients with TERT-mutated DTCs were more prone to have persistent disease (P = .001). TERT promoter mutations were significantly associated with disease-specific mortality [in the whole FCDTC (P < .001)] in DTCs (P < .001), PTCs (P = .001), and follicular carcinomas (P < .001). After adjusting for age at diagnosis and gender, the hazard ratio was 10.35 (95% confidence interval 2.01–53.24; P = .005) in DTC and 23.81 (95% confidence interval 1.36–415.76; P = .03) in PTCs.Conclusions:TERT promoter mutations are an indicator of clinically aggressive tumors, being correlated with worse outcome and disease-specific mortality in DTC. TERT promoter mutations have an independent prognostic value in DTC and, notably, in PTC.

Background Cytological analysis is part of the initial etiological evaluation of serous effusions. The newly proposed International System for Reporting Serous Fluid Cytopathology (ISRSFC) aims to standardize reporting. Methods All pleural and peritoneal effusion samples admitted for cytological analysis at our institution between 2012 and 2016, and pericardial effusion samples admitted between 2008 and 2018, were reviewed and reclassified according to the ISRSFC. Risk of malignancy (ROM) and performance parameters were calculated. Results 1496 pleural effusion samples were reclassified: 12(0.8%) non‐diagnostic (ND), 944(63.1%) negative for malignancy (NFM), 9(0.6%) atypia of undetermined significance (AUS), 54(3.6%) suspicious of malignancy (SFM) and 477(31.9%) malignant (M). 64 pericardial effusion samples were reclassified: 23(35.9%) NFM, 1(1.6%) AUS, 4(6.3%) SFM and 36(56.2%) M. 763 peritoneal effusion samples were reclassified: 5(0.7%) ND, 457(59.9%) NFM, 12(1.6%) AUS, 37(4.8%) SFM and 252(33%) M. The ROM was, respectively, for each of the aforementioned categories, 57.1%, 23.9%, 50%, 76.2%, 100% in pleural effusions, 100%, 26.3%, 62.5%, 91.7%, 100% in peritoneal effusions and 0% for NFM, 0% for AUS and 100% for M in pericardial effusions. Sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy were, respectively, 61.6%, 100%, 100%, 73.3%, 81.3% for pleural, 100%, 100%, 100%, 100%, 100% for pericardial and 61.2%, 100%, 100%, 70%, 79.7% for peritoneal effusion samples. Conclusion Serous effusion cytology has a high specificity and positive predictive value and a modest sensitivity and negative predictive value, supporting its role in confirming the diagnosis of malignancy. The ISRSFC will increase standardization and reproducibility in reporting, leading to improved clinical decision‐making.

Follicular thyroid carcinoma is being diagnosed less and less frequently despite the increasing incidence of well-differentiated thyroid carcinomas everywhere. This review will discuss the reasons underlying such an observation focusing on the evolution of the morphological and immunohistochemical diagnostic criteria of follicular thyroid tumors. It will address the differential diagnosis between follicular carcinoma and three tumor types-follicular adenoma, follicular variant of papillary carcinoma and poorly differentiated carcinoma-as well as the problems raised by the newly described categories of follicular tumors: follicular tumor of uncertain malignant potential, well-differentiated tumor of uncertain malignant potential and welldifferentiated carcinoma, not otherwise specified. Finally, the prognostic and therapeutic significance of some promising molecular biomarkers will be discussed within the frame of the aforementioned histopathological classification.

When the genotype of primary tumors is compared with the genotype of LNMs, the concordance is high for all the genes studied. On the other hand, distant metastases show an enrichment in TERTp mutations and a decrease in BRAF mutations. TERTp mutations may play a role in distant metastases.

Objective: To compare the outcomes and evaluate the relative risk of thyroid cancer by using the UK thyroid fine-needle aspiration (FNA) cytological diagnostic categories, with the main objective being the clarity of patient management. Study Design: Results of thyroid FNA reported as Thy3a, Thy3f, Thy4, and Thy5 were correlated with histological outcomes. The specificity and positive predictive value (PPV; risk of malignancy) for each reporting category was assessed. Results: Of a total of 873 thyroid FNAs, 237 (27%) were reported as ‘abnormal’: 40 (4.6%) as Thy3a, 119 (13.6%) as Thy3f, 20 (2.2%) as Thy4, and 58 (6.6%) as Thy 5. The final outcomes were available in 136 (57%) cases which underwent surgical resection (25, 60, 55, and 74% of Thy3a, Thy3f, Thy4, and Thy5, respectively). The known outcomes of the Thy3a category were too low to be statistically significant. The specificity and PPV of the Thy3f, Thy4, and Thy5 (equivalent to the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) IV, V, and VI) categories were 50, 50, and 100% and 28, 64, and 100%, respectively. The PPV of Thy3f for diagnosis of ‘neoplasms’ (benign and malignant) was 63%. Conclusion: The current thyroid FNA classification system used in the UK, which is comparable to TBSRTC, offers a sound basis for clear communication on which the management of patients with abnormal thyroid FNA findings can be based. Categories Thy3f, Thy4, and Thy5 carry a progressively rising risk of malignancy, justifying their continuing use. Diagnostic category Thy5 ‘malignant’ is robust and can be used as a sure indication of a definitive surgical management.

High-Risk Human papillomavirus (HR-HPV) full genotyping methods have been described as of great potential use in epidemiology and preventive strategies, including cervical cancer screening and HPV vaccination. We characterized the prevalence and distribution of HR-HPV genotypes in cervico-vaginal samples obtained from the Regional Cervical Cancer Screening Program from the Northern Region of Portugal. HR-HPV genotyping was performed using Anyplex™ II HPV-HR Detection kit in 105,458 women enrolled between August 2016 and December 2017. HR-HPVs were detected in 10,665 women (10.2%) with a prevalence ranging from 6.2 to 17.1% depending on age, and from 8.7 to 10.7% depending on geographical location. Multiple infections with two or more HR-HPVs were detected in 2736 (25.7%) of HR-HPV women ranging from 16.5 to 31.0% depending on age. Amongst HR-HPV positive women, HPV-16 (17.5%), HPV-39 (16.7%), HPV-31 (15.0%), HPV-68 (13.2%), HPV-52 (10.7%) and HPV-51 (10.6%) were the most common genotypes in our population, being HPV-16 more frequent in women aged from 30 to 45 years and HPV-39 in 50–65 years. Results also show that HPV16/18 are present in 22.1% and HPV16/18/31/33/45/52/58 in 47.6% of HR-HPV positive women. This is the largest study on HR-HPV genotyping for Cervical Cancer Screening in European populations and provides critical data for program management and vaccine policy.

Cytological examination of effusions in KSHV-related lymphoproliferative disorders may show similar morphological features but clonality studies and immunocytochemistry are very helpful in distinguishing between these rare benign and malignant lymphoproliferative diseases.

BackgroundOnly one previous study, via telephone call, on the prevalence of self-reported food allergies has been performed in Portugal, in a small sample of adults. The objective of this study was to determine the prevalence of self-reported and probable food allergy, analyze the clinical features and involved foods in Portuguese adults.MethodsPopulation-based, cross-sectional study performed in various healthcare centres from central Portugal. All 1436 randomly selected individuals (median age: 45 years, 50.6 % female) replied to a validated food allergy questionnaire by phone. Those who reported an adverse food reaction were invited to come to the hospital, where clinical history was taken, skin prick (SPT) and prick-prick skin (SPPT) tests were performed and food allergen-specific IgE levels (sIgE) were determined. An open oral challenge was performed in selected cases. Cases of positive clinical history of immediate (up to 2 h after ingestion) reaction in association with positive food sIgE levels and/or skin prick tests were classified as IgE-associated probable food allergy. Cases of positive clinical history of delayed (more than 2 h after ingestion) and negative food sIgE levels independently of positive SPT or SPPT results were classified as non-IgE associated probable food allergy.ResultsThe prevalence of probable food allergy in our sample was 1 %, with shellfish and fish as the most frequently implicated foods. IgE-mediated probable food allergy occurred in 0.71 % of cases, with shellfish, peanut and nuts mainly involved. Cutaneous symptoms were most frequently reported. Prevalence values and food types were discrepant between self-reported and probable food allergies.ConclusionsThe prevalence of probable food allergies in Portuguese adults is low, is mostly related to shellfish, peanut and nuts and most frequently involves cutaneous symptoms.Electronic supplementary materialThe online version of this article (doi:10.1186/s13223-016-0139-8) contains supplementary material, which is available to authorized users.