The Role of BRAF V600E in Reducing AUS/FLUS Diagnosis in Thyroid Fine Needle Aspiration
In this study, we summarize AUS/FLUS diagnosed cases from thyroid fine needle aspirations in our center from 2015 to 2017 to explore the impact of BRAF V600E detection on the cytopathological diagnosis of PTC. BRAF V600E detection could significantly reduce the AUS/FLUS diagnosis rates from 11.59 to 8.42% when all BRAF V600E-mutated AUS/FLUS cases were diagnosed as conforming to PTC (20.01 to 19.13% in 2016 and 10.92 to 7.93% in 2017, respectively). The AUS/M rates decreased from 0.67 to 0.64 in 2016 and from 0.33 to 0.23 in 2017. We further discuss a case with a single BRAF V600E cytological mutant lacking a postoperative...
Source: Endocrine Pathology - September 15, 2019 Category: Pathology Source Type: research
RET Proto-oncogene Gene Mutation Is Related to Cervical Lymph Node Metastasis in Medullary Thyroid Carcinoma
AbstractRET proto-oncogene (RET) mutations were proved to be related to the development of medullary thyroid carcinoma (MTC). We aimed to analyze the role ofRET mutations in cervical lymph node metastasis in patients with MTC. Forty-nine patients with preoperatively diagnosed MTC by fine-needle aspiration cytology (FNAC) who underwent bilateral total thyroidectomy with cervical lymphadenectomy were included. PostoperativeRET gene test and pathological analysis were performed with the surgical specimens; serum calcitonin (Ctn) and carcinoembryonic antigen (CEA) levels were tested pre- and postoperatively, to evaluate the as...
Source: Endocrine Pathology - September 6, 2019 Category: Pathology Source Type: research
The Genomic Landscape of Sporadic Prolactinomas
AbstractSomaticGNAS andUSP8 mutations have been implicated in sporadic somatotrophinomas and corticotrophinomas, respectively. However, no genes are known to be recurrently mutated in sporadic prolactinomas. The prevalence of copy number variants (CNV), which is emerging as a mechanism of tumorigenesis in sporadic pituitary adenomas in general, is also unclear in prolactinomas. To characterize the genetic events underpinning sporadic prolactinomas, we performed whole exome sequencing of paired tumor and germline DNA from 12 prolactinoma patients. We observed recurrent large-scale CNV, most commonly in the form of copy numb...
Source: Endocrine Pathology - August 30, 2019 Category: Pathology Source Type: research
Long Non-coding RNA Expression in Anaplastic Thyroid Carcinomas
AbstractLong non-coding RNAs (lncRNAs) participate in transcription and in epigenetic or post-transcriptional regulation of gene expression. They also have roles in epithelial to mesenchymal transition and in carcinogenesis. Because lncRNAs may also have a role in thyroid cancer progression, we examined a group of thyroid tumors which included papillary thyroid carcinomas and anaplastic thyroid carcinomas to determine the specific lncRNAs that were upregulated during thyroid tumor progression. An RT2 Profiler PCR Array Human Cancer Pathway Finder consisting of 84 lncRNAs (Qiagen) and fresh tissues of normal thyroid, PTCs, ...
Source: Endocrine Pathology - August 28, 2019 Category: Pathology Source Type: research
Overexpression of Histone H3 Lysine 27 Trimethylation Is Associated with Aggressiveness and Dedifferentiation of Thyroid Cancer
AbstractA variety of epigenetic dysregulations are observed in thyroid malignancies. EZH2, the catalytic subunit of polycomb repressive complex 2, is upregulated in advanced thyroid cancers. EZH2 can catalyze trimethylation of histone H3 at lysine 27 (H3K27me3) and contribute to transcriptional silencing of target genes. Here, we investigated the immunohistochemical expression of H3K27me3 in neoplastic and normal thyroid tissues. Normal thyroid epithelial cells typically exhibited nuclear staining of moderate intensity. A similar expression pattern was observed in nodular goiters and follicular adenomas. By contrast, stron...
Source: Endocrine Pathology - August 7, 2019 Category: Pathology Source Type: research
Systematic Review and Meta-analysis of the Impact of Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features (NIFTP) on Cytological Diagnosis and Thyroid Cancer Prevalence
This study was done to investigate the prevalence and cytological distribution of NIFTP. PRISMA guided systematic review was done from a database search of Pubmed, EMBASE, and Medline using the search terms “non-invasive follicular thyroid neoplasm with papillary-like nuclear features”, “non-invasive follicular variant of papillary carcinoma”, “niftp”, and “Bethesda” until November 2018. Original articles with surgically proven diagnoses of NIFTP using strict NIFTP criteria were include d. Twenty-nine studies with 1563 cases of NIFTP were included. The pooled prevalence of NIFTP in cases which would be clas...
Source: Endocrine Pathology - July 22, 2019 Category: Pathology Source Type: research
Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1 and 2 Are Expressed in Neuroblastoma
AbstractNeuroblastoma (NB), the most common extracranial cancer in childhood, exhibits neuroendocrine (NE) differentiation. Two well-established NE markers, chromogranin A (CgA) and synaptophysin (syn), are used in the histopathological diagnostics. Our aims were to explore if the NE markers synaptic vesicle protein 2 (SV2) and vesicular monoamine transporter 1 (VMAT1) and 2 (VMAT2) also are expressed in human NB and if so, evaluate their usefulness in NB histopathological diagnostics. Tumor specimens from 21 NB patients, before and/or after chemotherapy, were immunostained for CgA, syn, SV2, VMAT1, and VMAT2. Clinical dat...
Source: Endocrine Pathology - July 17, 2019 Category: Pathology Source Type: research
A Systematic Review and Meta-Analysis of the Diagnostic Performance of BRAF V600E Immunohistochemistry in Thyroid Histopathology
In conclusion, BRAF IHC is highly sensitive and reasonably specific in detecting theBRAFV600E mutation; however, there is some variability in analytic performance. (Source: Endocrine Pathology)
Source: Endocrine Pathology - July 11, 2019 Category: Pathology Source Type: research
The Utility of Intraoperative Cytological Smear and Frozen Section in the Surgical Management of Patients with Cushing ’s Disease due to Pituitary Microadenomas
AbstractCushing ’s disease (CD) is most commonly caused by a microadenoma, which at surgical exploration may not provide adequate tissue for pathologic diagnosis using standard techniques. We wished to determine the accuracy of intraoperative pathologic examination and whether the addition of intraoperative cytol ogy increased the diagnostic yield. We reviewed the pathology reports from 403 operations on 341 patients with CD microadenomas from a single institution. The concordance rates of intraoperative diagnoses (cytology and frozen) with the final (paraffin section) pathological diagnosis were calculated. The overall ...
Source: Endocrine Pathology - June 20, 2019 Category: Pathology Source Type: research
Comprehensive Evaluation of Rare Pituitary Lesions: A Single Tertiary Care Pituitary Center Experience and Review of the Literature
AbstractThe 2017 World Health Organization classification of central nervous system and endocrine tumors have introduced significant changes in the diagnostic criteria for pituitary lesions. The aim of our paper is to describe the epidemiological, clinico-pathological, and radiological features of a single consecutive institutional surgical series of rare pituitary lesions, using these new criteria. Of the 316 endoscopic endonasal trans-sphenoidal approaches performed for pituitary lesions between 2010 and 2018, 15 rare lesions were encountered. These included metastases, pituitary carcinomas, pituicytomas, granular cell t...
Source: Endocrine Pathology - June 16, 2019 Category: Pathology Source Type: research
TERT Promoter Mutation Spatial Heterogeneity in a Metastatic Follicular Thyroid Carcinoma: Implications for Clinical Work-Up
We describe a patient presenting with a large pelvic mass, in which a core needle biopsy was consistent with follicular-patterned thyroid tissue positive for a Q61RNRAS mutation and the C228TTERT promoter mutation. Upon clinical investigation, a 60-mm lesion was detected in the right thyroid lobe. The ensuing FNAB was consistent with a follicular thyroid tumor, Bethesda IV, positive for the sameNRAS mutation and both the C228T and C250TTERT promoter mutations. A total thyroidectomy was performed, and a widely invasive FTC was diagnosed. Tumor tissue samples from various parts of the primary lesion were investigated forTERT...
Source: Endocrine Pathology - May 31, 2019 Category: Pathology Source Type: research
Parathyroid Neoplasms: Immunohistochemical Characterization and Long Noncoding RNA (lncRNA) Expression
AbstractParathyroid adenomas are slow growing benign neoplasms associated with hypercalcemia, while atypical parathyroid adenomas and parathyroid carcinomas are uncommon tumors and their histologic features may overlap with parathyroid adenomas. LncRNAs participate in transcription and in epigenetic or post-transcriptional regulation of gene expression, and probably contribute to carcinogenesis. We analyzed a group of normal, hyperplastic, and neoplastic parathyroid lesions to determine the best immunohistochemical markers to characterize these lesions and to determine the role of selected lncRNAs in tumor progression. A t...
Source: Endocrine Pathology - May 21, 2019 Category: Pathology Source Type: research
Pembrolizumab-Induced Thyroiditis
We describe a case of thyrotoxicosis secondary to a programmed cell death 1 (PD-1) immune checkpoint inhibitor, pembrolizumab. A 30- year-old female was started on pembrolizumab immunotherapy for stage III small cell carcinoma of the ovary, hypercalcemic type. Thirteen days after her second cycle of therapy, she presented with symptoms consistent with thyrotoxicosis. A thyroiditis was diagnosed by thyroid function tests and ultra sonography. She was originally treated with prednisone and metoprolol for possible Grave’s disease. Pertechnetate thyroid scan was more consistent with thyroiditis secondary to pembrolizumab. Sh...
Source: Endocrine Pathology - May 19, 2019 Category: Pathology Source Type: research
Risk of Malignancy According to the Sub-classification of Atypia of Undetermined Significance and Suspicious Follicular Neoplasm Categories in Thyroid Core Needle Biopsies
The objective of this study was to evaluate the risk of malignancy (ROM) associated with atypia of undetermined significance (AUS) and suspicious follicular neoplasm (SFN) core needle biopsy (CNB) categories after further sub-classification. Data from 2267 thyroid nodules evaluated by ultrasound-guided CNB, from January to December 2015, were retrospectively reviewed. AUS nodules (n = 556) were sub-classified as follows: (1) architectural atypia (AUS-A;n = 369, 66.4%), (2) cytologic atypia (AUS-C;n = 35, 6.3%), (3) cytologic/architectural atypia (AUS-C/A;n = 85, 15.3%), or (4) oncocytic atypia (AUS-O;n =...
Source: Endocrine Pathology - April 30, 2019 Category: Pathology Source Type: research
A Previously Unrecognized Monocytic Component of Pheochromocytoma and Paraganglioma
We describe a consistently present, previously unrecognized, population of monocytes in pheochromocytomas and paragangliomas. Although sustentacular cells are generally recognized as a common component of these tumors, differential immunohistochemical staining for CD163 and S100 shows that monocytes can in fact be more numerous. These cells frequently resemble sustentacular cells topographically and cytologically, possibly explaining why they have not been previously noticed. They contribute to the tumor proteome and may have implications for tumor biology. No correlations were identifiable between the p resence of these...
Source: Endocrine Pathology - April 17, 2019 Category: Pathology Source Type: research
