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Endocrine Pathology

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https://www.readbyqxmd.com/read/27873160/prognostic-significance-of-cd44-and-orthopedia-homeobox-protein-otp-expression-in-pulmonary-carcinoid-tumours
#1
George Papaxoinis, Daisuke Nonaka, Ciara O'Brien, Benjamin Sanderson, Piotr Krysiak, Wasat Mansoor
CD44 and orthopedia homeobox protein (OTP) expressions have shown to be predictive of overall survival in pulmonary carcinoid (PC) tumours. The scope of the present study was to validate their role in PC patients and investigate potential application in clinical practice. Data was collected from patients presenting to a tertiary cancer centre diagnosed with PC between 2003 and 2015. Diagnosis was confirmed by central pathology review. Formalin-fixed paraffin-embedded (FFPE) tissue samples collected at diagnosis were scored using immunohistochemistry (H score) for standard CD44 and nuclear and cytoplasmic OTP protein expression...
November 21, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27838885/pathological-and-genetic-characterization-of-bilateral-adrenomedullary-hyperplasia-in-a-patient-with-germline-max-mutation
#2
Pauline Romanet, Carole Guerin, Pascal Pedini, Wassim Essamet, Frédéric Castinetti, Fréderic Sebag, Philippe Roche, Alberto Cascon, Arthur S Tischler, Karel Pacak, Anne Barlier, David Taïeb
In recent years, familial pheochromocytoma (PHEO) with germline mutations in the MAX (MYC associated factor X) gene has been reported in a few cases. Here, we investigated a 25-year-old patient with multiple PHEOs associated with a non-sense germline MAX mutation. Preoperative (18)F-FDOPA PET/CT revealed bilateral adrenal involvement with multiple tumors. In addition, both adrenal glands were found to have diffuse or nodular adrenal medullary hyperplasia (AMH), a histopathological feature previously described as a precursor of MEN2- and SDHB-related PHEOs but not MAX...
November 12, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27797004/novel-cause-of-black-thyroid-intraoperative-use-of-indocyanine-green
#3
Rebecca D Chernock, Ryan S Jackson
The antibiotic minocycline is virtually pathognomonic for brown-black discoloration of the thyroid gland referred to as 'black thyroid'. Black thyroid' is an incidental finding in patients taking the drug who undergo thyroid surgery for another indication and is not of known clinical significance. However, its recognition is important so as not to raise concern for a disease process. Here, we present the first case of 'black thyroid' attributable to the iodine-containing compound indocyanine green. Intraoperative indocyanine green was administered as part of a research protocol transoral robotic-assisted surgery for a base of tongue cancer in a 44-year-old man...
October 28, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27771834/familial-papillary-thyroid-carcinoma-fptc-a-retrospective-analysis-in-a-sample-of-the-bulgarian-population-for-a-10-year-period
#4
Kalin Vidinov, Dragomira Nikolova
In recent years, there are numerous reports indicating the presence of familial papillary carcinoma. Unfortunately, no genetic defect can be linked directly to the disease. In this study, we set the goal to make a retrospective analysis of the cases with papillary carcinoma in the Department of Endocrine Surgery for the past 10 years, to compare the characteristics of sporadic and familial forms of the disease and to find families with hereditary papillary carcinoma. The study included 810 patients treated for thyroid cancer in the Department of Endocrine Surgery, USBALE "Acad...
October 22, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27743246/dopamine-secreting-paraganglioma-in-the-retroperitoneum
#5
Yusuke Matsuda, Noriko Kimura, Takanobu Yoshimoto, Yoshihiro Sekiguchi, Junzo Tomoishi, Ichiro Kasahara, Yoshihito Hara, Yoshihiro Ogawa
Pheochromocytomas and paragangliomas, which exclusively produce dopamine, are very rare. Herein, we report for the first time a Japanese case of an exclusively dopamine-producing paraganglioma accompanied by detailed immunohistochemical analyses. A 70-year-old Japanese woman was referred to our hospital for functional examination of her left retroperitoneal mass. Her adrenal functions were normal, except for excessive dopamine secretion. After the tumorectomy, her dopamine level normalized. The histopathological diagnosis of the tumor was paraganglioma; this was confirmed by positive immunostaining of chromogranin A (CgA), tyrosine hydroxylase (TH), dopamine β-hydroxylase (DBH), and succinate dehydrogenase gene subunit B (SDHB)...
October 14, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27709415/pathology-of-human-pheochromocytoma-and-paraganglioma-xenografts-in-nsg-mice
#6
James F Powers, Karel Pacak, Arthur S Tischler
A major impediment to the development of effective treatments for metastatic or unresectable pheochromocytomas and paragangliomas has been the absence of valid models for pre-clinical testing. Attempts to establish cell lines or xenografts from human pheochromocytomas and paragangliomas have previously been unsuccessful. NOD-scid gamma (NSG) mice are a recently developed strain lacking functional B-cells, T-cells, and NK cells. We report here that xenografts of primary human paragangliomas will take in NSG mice while maintaining their architectural and immunophenotypic characteristics as expressed in the patients...
October 6, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27704398/the-ret-e616q-variant-is-a-gain-of-function-mutation-present-in-a-family-with-features-of-multiple-endocrine-neoplasia-2a
#7
William Grey, Rosaline Hulse, Anna Yakovleva, Dilyana Genkova, Benjamin Whitelaw, Ellen Solomon, Salvador J Diaz-Cano, Louise Izatt
The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland...
October 5, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27696303/malat1-long-non-coding-rna-expression-in-thyroid-tissues-analysis-by-in-situ-hybridization-and-real-time-pcr
#8
Ranran Zhang, Heather Hardin, Wei Huang, Jidong Chen, Sofia Asioli, Alberto Righi, Francesca Maletta, Anna Sapino, Ricardo V Lloyd
Long non-coding RNAs (lncRNAs) are important for transcription and for epigenetic or posttranscriptional regulation of gene expression and may contribute to carcinogenesis. Metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), an lncRNA involved in the regulation of the cell cycle, cell proliferation, and cell migration, is known to be deregulated in multiple cancers. Here, we analyzed the expression of MALAT1 on 195 cases of benign and malignant thyroid neoplasms by using tissue microarrays for RNA in situ hybridization (ISH) and real-time PCR...
September 30, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27688081/tert-promoter-mutation-in-an-aggressive-cribriform-morular-variant-of-papillary-thyroid-carcinoma
#9
Eun Ji Oh, Sohee Lee, Ja Seong Bae, Yourha Kim, Sora Jeon, Chan Kwon Jung
The cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is a rare thyroid neoplasm characterized by unique morphologic findings and association with familial adenomatous polyposis. The biologic behavior of this variant has been reported to behave similarly to classic PTC. We report a rare sporadic case of CMV-PTC occurring in a 45-year-old female with multiple lymph nodes and bone metastases, which were detected after total thyroidectomy and radioactive iodine remnant ablation. Molecular analyses of primary thyroid and metastatic tumor tissues revealed a telomerase reverse transcriptase (TERT) promoter mutation, but absence of BRAF, KRAS, NRAS, HRAS, and PIK3CA mutations...
September 30, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27688080/reliability-of-ki-67-determination-in-fna-samples-for-grading-pancreatic-neuroendocrine-tumors
#10
Cristina Díaz Del Arco, J Ángel Díaz Pérez, Luis Ortega Medina, Javier Sastre Valera, M Jesús Fernández Aceñero
Neuroendocrine pancreatic tumors (PanNETs) are graded on the basis of their proliferative activity. Cytological samples are commonly the only samples available, but the determination of Ki-67 in cytology and its reliability as a measure of tumor mitotic activity is not well settled. We have retrospectively reviewed all the cases of FNA under EUS control of PanNETs in a 10-year period (2006-2016) in the Hospital Clínico San Carlos (Madrid). We identified 10 PanNET cases with histological correlation. Median age was 49...
September 29, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27688079/sarcomatoid-adrenal-carcinoma-case-report-with-contribution-to-pathogenesis
#11
Wolfgang Saeger, Werner Mohren, Matthias Behrend, Peter Iglauer, Waldemar Wilczak
A tumor in the adrenal region with two metastases in the liver was classified as poorly differentiated sarcoma on the base of extensive immunostainings (expression of vimentin, desmin, myogenin, and CD31, no expression of inhibin, melan A). Four years later in a second examination with molecular methods for a study of adrenal sarcomas, this diagnosis must be revised due to the lack of MDM-2 gene amplification and FKHR translocation which exclude sarcoma. Further immunostainings of many other parts of the tumor showed in one area more mature tumor tissue expressing synaptophysin, SF-1, and melan A...
September 29, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27550342/stage-specific-embryonic-antigen-1-ssea-1-expression-in-thyroid-tissues
#12
Jin Xu, Heather Hardin, Ranran Zhang, Kaitlin Sundling, Darya Buehler, Ricardo V Lloyd
Stage-specific embryonic antigen-1 (SSEA-1), also known as CD15, is a member of a cluster of differentiation antigens that have been identified in various normal tissues and in different types of cancers including papillary and medullary thyroid carcinoma. SSEA-1 may be expressed in normal stem cells and cancer stem-like cells. To evaluate the potential diagnostic and prognostic utility of SSEA-1 in thyroid tumors, we analyzed the expression of SSEA-1 in normal and neoplastic thyroid tissues by immunohistochemistry (IHC) using a tissue microarray with 158 different tissue cores...
December 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27456058/new-genetics-and-genomic-data-on-pancreatic-neuroendocrine-tumors-implications-for-diagnosis-treatment-and-targeted-therapies
#13
REVIEW
Anja M Schmitt, Ilaria Marinoni, Annika Blank, Aurel Perren
The recent findings on the roles of death-associated protein 6/α-thalassemia/mental retardation X-linked (DAXX/ATRX) in the development of pancreatic neuroendocrine tumors (PanNETs) have led to major advances in the molecular understanding of these rare tumors and open up completely new therapeutic windows. This overview aims at giving a simplified view on these findings and their possible therapeutic implications. The importance of epigenetic changes in PanNET is also underlined by recent findings of a cross-species study on microRNA (miRNA) and messenger RNA (mRNA) profiles in PanNETs...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27372303/genomic-landscape-of-poorly-differentiated-and-anaplastic-thyroid-carcinoma
#14
REVIEW
Bin Xu, Ronald Ghossein
Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) are aggressive thyroid tumors associated with a high mortality rate of 38-57 % and almost 100 % respectively. Several recent studies utilizing next generation sequencing techniques have shed lights on the molecular pathogenesis of these tumors, providing evidence to support a stepwise tumoral progression from well-differentiated to poorly differentiated, and finally to anaplastic thyroid carcinomas. While BRAF (V600E) and RAS mutations remain the main drivers in aggressive thyroid carcinoma, PDTC and ATC gains additional mutations, e...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27334654/neuroendocrine-tumors-of-the-urinary-bladder-according-to-the-2016-world-health-organization-classification-molecular-and-clinical-characteristics
#15
REVIEW
Erik Kouba, Liang Cheng
Neuroendocrine neoplasms of the urinary bladder are a rare type of tumor that account for a small percentage of urinary bladder neoplasms. These tumors of the urinary bladder range from well-differentiated neuroendocrine neoplasms (carcinoids) to the more aggressive subtypes such as small cell carcinoma. Despite the rarity of the neuroendocrine tumors of the bladder, there has been substantial investigation into the underlying genomic, molecular, and the cellular alterations within this group of neoplasms. Accordingly, these findings are increasingly incorporated into the understanding of clinical aspects of these neoplasms...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27306997/sporadic-gastric-well-differentiated-neuroendocrine-tumors-have-a-higher-ki-67-proliferative-index
#16
Hee Eun Lee, Taofic Mounajjed, Lori A Erickson, Tsung-Teh Wu
Well-differentiated neuroendocrine tumor (WDNET) of the stomach can arise in three distinct clinical settings: (1) in association with autoimmune atrophic gastritis, (2) in association with multiple neuroendocrine neoplasia type I (MEN I) or Zollinger-Ellison syndrome (ZES), or (3) sporadic. The Ki-67 proliferative index (PI) in gastric WDNETs in these three distinct clinical settings has not been evaluated in detail. Forty-five gastric WNETs underwent polypectomy (n = 4), endoscopic mucosal resection (n = 12), and surgical resection (n = 29) between 1994 and 2015 were included...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27300354/liver-metastases-of-neuroendocrine-tumors-rarely-show-overlapping-immunoprofile-with-hepatocellular-carcinomas
#17
Ming Jin, Xiaoping Zhou, Martha Yearsley, Wendy L Frankel
The distinction of hepatocellular carcinoma (HCC), neuroendocrine tumor (NET) metastatic to the liver, and cholangiocarcinoma (CC) can sometimes be challenging on small biopsies. Tissue microarrays were constructed from HCCs, NETs, and CCs. The immunoprofile was evaluated using HepPar1, glypican-3 (GPC3), synaptophysin (SYN), chromogranin A (CHR), CD56, MOC-31, and pCEA. One hundred thirteen HCCs, 48 NETs, and 44 CCs were included. Of HCCs, 107 (95 %) expressed HepPar1 and/or GPC3, 52 (46 %) both, and 97 (88 %) marked with pCEA (canalicular pattern)...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27262318/urinary-bladder-paragangliomas-analysis-of-succinate-dehydrogenase-and-outcome
#18
Sounak Gupta, Jun Zhang, Michael Rivera, Lori A Erickson
Paragangliomas of the urinary bladder can arise sporadically or as a part of hereditary syndromes including those with underlying mutations in the succinate dehydrogenase (SDH) genes, which serve as tumor suppressors. SDH deficiency can be screened for by absence of immunohistochemical detection of SDHB. In this study of 11 cases, clinical follow-up was available for 9/11 cases. The cases were reviewed and graded based on the grading system for adrenal pheochromocytomas and paragangliomas (GAPP) criteria. Immunohistochemistry was performed for Ki67 and SDHB...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27256098/expression-of-somatostatin-receptor-type-2a-and-pten-in-neuroendocrine-neoplasms-is-associated-with-tumor-grade-but-not-with-site-of-origin
#19
Hideo Wada, Katsuya Matsuda, Yuko Akazawa, Yuka Yamaguchi, Shiro Miura, Nozomi Ueki, Akira Kinoshita, Koh-Ichiro Yoshiura, Hisayoshi Kondo, Masahiro Ito, Takeshi Nagayasu, Masahiro Nakashima
Neuroendocrine neoplasms (NENs) are derived from endocrine cells in various organs and share common morphological features. This study aimed to clarify whether NENs of different organs are comparable at the molecular pathologic level. We retrospectively collected 99 cases of NENs from gastro-entero-pancreatic, lung, and other organs and reclassified these according to identical criteria. Grade, site, and molecular expression profile including NE markers, Ki-67, p53, somatostatin receptor type 2A (SSTR2A), and phosphatase and tensin homolog (PTEN) were compared...
September 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27256097/comparing-clinicopathologic-and-radiographic-findings-between-tt-ump-classical-and-non-encapsulated-follicular-variants-of-papillary-thyroid-carcinomas
#20
Husniye Baser, Oya Topaloglu, Abbas Ali Tam, Afra Alkan, Aydan Kilicarslan, Reyhan Ersoy, Bekir Cakir
Thyroid tumors of uncertain malignant potential (TT-UMP) comprise an accepted subgroup of follicular-patterned thyroid tumors for which benignancy or malignancy cannot be precisely assessed. We aimed to evaluate the demographic characteristics, ultrasound (US) findings, and cytological results of patients with TT-UMP and compare these findings to a classical variant of papillary thyroid carcinoma (CV-PTC) and non-encapsulated follicular variant of PTC (NEFV-PTC) patients; we also evaluated the immunohistochemical characteristics of patients with TT-UMP...
September 2016: Endocrine Pathology
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