Comprehensive Assessment of TERT mRNA Expression across a Large Cohort of Benign and Malignant Thyroid Tumours

The presence of TERT promoter (TERTp) mutations in thyroid cancer have been associated with worse prognosis features, whereas the extent and meaning of the expression and activation of TERT in thyroid tumours is still largely unknown. We analysed frozen samples from a series of benign and malignant thyroid tumours, displaying non-aggressive features and low mutational burden in order to evaluate the presence of TERTp mutations and TERT mRNA expression in these settings. In this series, TERTp mutations were found in 2%, only in malignant cases, in larger cancers, and from older patients. TERT mRNA expression was detected in both benign and malignant tumours, with increased frequencies in the malignant tumours with aggressive histotypes, larger tumours, and from older patients. In benign tumours, TERT mRNA expression was found in 17% of the follicular thyroid adenoma (FTA) with increased levels of expression in smaller tumours and associated with the presence of thyroiditis. TERTp mutations and TERT mRNA expression are correlated with worse prognosis features in malignant thyroid tumours, whereas TERT mRNA expression in the benign tumours is associated with the presence of thyroiditis.info:eu-repo/semantics/publishedVersio

Performance of the Bethesda system for reporting thyroid cytology in multi-institutional large cohort of pediatric thyroid nodules: a detailed analysis

Background: To evaluate the performance of TBSRTC through multi-institutional experience in the paediatric population and questioning the management recommendation of ATA Guidelines Task Force on Paediatric Thyroid Cancer; Methods: A retrospective search was conducted in 4 institutions to identify consecutive thyroid FNAC cases in paediatric population between 2000 and 2018. Following the 2nd TBSRTC, the risk of malignancy ratios (ROMs) was given in ranges and calculated by 2 different ways. Sensitivity, specificity, PPV, NPV and DA ratios were calculated using histologic diagnosis as the gold standard; Results: Among a total of 405 specimens, the distribution of cases for each category was, 44 (11%) for ND, 204 (50%) for B category, 40 (10%) for AUS/FLUS, 36 (9%) for FN/SFN, 24 (6%) for SFM and 57 (14%) for M categories. 153 cases have a histological diagnosis. The ratio of surgery was 23% in ND, 16% in the B, 45% for AUS/FLUS, 75% for SFN/FN and 92% for SFM and 75% in M categories; Conclusions: The data underlines the high ROM values in paediatric population which might be clinically meaningful. The high rate of malignancy of the cohort of operated patients (50%) also underlines the need of better preoperative indicators for stratification. Considering that more than half of the nodules in AUS/FLUS category were benign, direct surgery recommendation could be questionable as proposed in ATA 2015 guidelines.info:eu-repo/semantics/publishedVersio

Cytology samples and molecular biomarker testing in lung cancer-advantages and challenges

This review presents an overview on molecular diagnostic in lung cancer using cytologic samples. Every patient with advanced non-small cell lung cancer (NSCLC) should be tested for targetable driver mutations and gene arrangements. If a mutation is found, this may open an option for targeted therapy. As most of the NSCLC patients in advanced stage of disease are no candidates for surgery, these tests have to be performed on small biopsies or cytology samples. The most common and treatable gene alterations should be tested in every patient: EGFR, ALK, ROS1. A growing number of other genetic changes with targetable mutations may become treatable in the near future. To find patients who might profit from inclusion into clinical studies, relevant additional markers may be tested in an appropriate context. Another important approach for treatment is immunotherapy of lung cancer, which is guided by status of PD-L1 expression on tumour cells. The use of cytology samples carries considerable advantages: often, DNA of high quality is extracted thus enabling easy and precise analysis, and samples may be easily obtained. In case of effusions, effusion fluid seldom is not aspirated for immediate patient relief, so no additional dedicated procedure is needed. Some challenges exist: If the tumour cell count is low, mutations with a low allelic frequency may be missed. In cellblocks formalin-induced DNA, damage may obviate any DNA analysis. In very cellular smears, FISH may be impossible due to massive overlapping of nuclei. Autofluorescence may impede FISH analysis. Although there is no real universal test for genomic profiling for lung cancer, the pathology laboratory must be prepared to offer different assays on different specimens in order to address turnaround time and optimise detections of difficult tumour alterations such as gene fusions. The data from the literature demonstrate that cytology show consistent results, and it is a good alternative for lung cancer molecular testing

Current Topics and Practical Considerations of Cytology Practice in Lung Cancer: Reflexions from the Lung Symposium at the 42nd European Congress of Cytology, Malmo, 2019

In June 2019, a lung symposium was held at the 42nd European Congress of Cytology in Malmo, Sweden. Due to the current importance of cytological samples in the diagnoses and molecular analysis to set up the utmost management of lung cancer patients, cytologists from different countries shared the experience of their institutions. The place of the cytological samples gains more and more importance on the potential long-term survival gain through personalized medicine and this harbors the improvement of the guidelines both in pathology and cytology field. In this symposium, the new 6-tiered reporting system for pulmonary cytology proposed by the Papanicolaou Society of Cytopathology and detailed cytomorphological approach to lung carcinoma including look alike lesions and DNA- and RNA-based analysis of cytology material have been discussed. The cytopathologist plays a pivotal role in ensuring success of a correct triage for the cytology material to be sure of the adequacy and quality of the yield from the rapid on-site evaluation till the report which should encompass molecular profile in rational patient management. (C) 2020 S. Karger AG, Base

A mixed-type intermesenteric trunk as a major contributor to the ascending, transverse, and descending colons: a case report.

We present a case in which a mixed-type intermesenteric trunk was the major arterial supply for the ascending, transverse, and descending colons

DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions

DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genotyped for the c.1552G>A p.(E518K) mutation. When frozen tissue was available, DGCR8 mRNA expression was analysed by qPCR. Formalin-fixed paraffin-embedded tissues were studied for DGCR8 immunoexpression. We present for the first time the p.(E518K) mutation in a case of poorly differentiated thyroid carcinoma and present the deregulation of DGCR8 expression at mRNA level in follicular-patterned tumours. The obtained data solidify DGCR8 as another important player of miRNA-related gene mutations in thyroid tumorigenesis, particularly in follicular-patterned thyroid tumours

Clear cell variant of solid pseudopapillary neoplasm of pancreas diagnosed by fine needle aspiration: A case report and review of the literature

Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare tumor of uncertain malignant potential, predominantly affecting young adult females. We report a case of clear cell variant of SPN, which was diagnosed by fine needle aspiration biopsy. The aspirate was highly cellular and exhibited delicate branching papillary structures with central capillaries covered with several layers of plasmacytoid tumor cells. Acinar and rosette-like formations, as well as single neoplastic cells were also observed. An unusual cytologic feature was the presence of large, clear cytoplasmic vacuoles. The diagnosis of SPN was confirmed by characteristic immunocytochemical staining pattern including nuclear staining for beta-catenin, cytoplasmic staining for vimentin and lack of reactivity for cytokeratin

Mixed Hepatocellular Carcinoma and Hepatoblastoma: Cytohistopathologic Findings and Differential Diagnosis

Background: Hepatocellular carcinoma (HCC) accounts for approximately 80% of all the primary malignant tumors of the liver. Hepatoblastoma (HBL) is the most common primary malignant neoplasm of the liver in childhood, and extremely rare in adults. To the best of our knowledge, this is the first report of an adult case with cytopathologic description of a combined HCC and HBL, occurring in a noncirrhotic liver. Case: A 24-year-old male was admitted to the hospital with right-sided abdominal pain. Masses in the liver were detected radiologically. Fine-needle aspiration biopsy and core-needle biopsy revealed a malignant hepatocellular tumor with features of both HCC and HBL. Conclusion: In the present case among the distinct HCC cell groups, areas of smaller and more primitive cells consistent with embryonal type HBL and some other groups of cells with intermediate morphology were observed. These findings suggested the probable single stem cell origin of the tumor with differentiation to both cell groups rather than a combination of two different tumors. Therefore, the term 'malignant hepatocellular tumor' could also be considered to define this particular tumor. This case provides support to the previous reports in which HBL areas are described in HCC. Copyright (c) 2012 S. Karger AG, Base