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Endocrine Pathology

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https://www.readbyqxmd.com/read/28647780/analysis-of-newly-identified-and-rare-synonymous-genetic-variants-in-the-ret-gene-in-patients-with-medullary-thyroid-carcinoma-in-polish-population
#1
Maria Sromek, Małgorzata Czetwertyńska, Magdalena Tarasińska, Aneta Janiec-Jankowska, Renata Zub, Maria Ćwikła, Dorota Nowakowska, Magdalena Chechlińska
Gain-of-function germline mutations of the RET proto-oncogene are responsible for initiation of carcinogenesis within the thyroid gland and development of hereditary form of medullary thyroid carcinoma and MEN2 syndrome. Genotype-phenotype correlations are established for most RET mutations, but the importance of the synonymous changes in this gene remains debatable. We aimed to analyze RET gene variants in Polish population. Genetic testing for the RET gene variants was performed with standard methods in 585 people aged 1-85, including 448 patients with medullary thyroid carcinoma and 131 of their first- and second-degree relatives, as well as six patients suspected of MTC/MEN2...
June 24, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#2
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28639242/accuracy-of-fine-needle-cytology-in-histological-prediction-of-papillary-thyroid-carcinoma-variants-a-prospective-study
#3
Anna Cipolletta Campanile, Maria Gabriella Malzone, Nunzia Simona Losito, Gerardo Botti, Maria Grazia Chiofalo, Antongiulio Faggiano, Roberta Siciliano, Annamaria Colao, Luciano Pezzullo, Franco Fulciniti
Fine needle cytology (FNC) is a crucial procedure in the preoperative diagnosis of thyroid tumors. Papillary thyroid carcinoma (PTC), in its classic variant (cPTC), is the most common malignant neoplasm of the thyroid. Several histological variants of PTC have been described, each one with its own characteristics and prognosis. The ability of FNC to identify the variants represents a challenge even for a skilled pathologist. The aim of this study was to evaluate the diagnostic cytological accuracy of FNC in PTC and to look for specific features that could predict the different variants...
June 21, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28493102/men2-syndrome-related-medullary-thyroid-carcinoma-with-focal-tyrosine-hydroxylase-expression-does-it-represent-a-hybrid-cellular-phenotype-or-functional-state-of-tumor-cells
#4
Ozgur Mete, Ahmed Essa, Anil Bramdev, Navendren Govender, Runjan Chetty
No abstract text is available yet for this article.
May 10, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28488195/differences-in-clinical-features-between-subcategories-of-atypia-follicular-lesion-of-undetermined-significance
#5
Seong Dong Kim, Seung Hoon Han, Woo-Jin Jeong, Hyojin Kim, Soon Hyun Ahn
Within the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC), category III (atypia or follicular lesion of undetermined significance (AUS/FLUS)) comprises specimens with heterogeneous features and the need for subcategorization has been reported. We compared the clinical features of two subgroups from within the category of AUS/FLUS to determine precise guidelines for clinicians who explain the results of fine-needle aspiration (FNA) to patients. Retrospective review was performed including data from all patients who underwent FNA with results reported as AUS/FLUS at a single tertiary hospital from January 2010 to August 2014...
May 9, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28477311/update-on-adrenal-tumours-in-2017-world-health-organization-who-of-endocrine-tumours
#6
REVIEW
Alfred King-Yin Lam
The fourth edition of the World Health Organization (WHO) classification of endocrine tumours contains substantial new findings for the adrenal tumours. The tumours are presented in two chapters labelled as "Tumours of the adrenal cortex" and "Tumours of the adrenal medulla and extra-adrenal paraganglia." Tumours of the adrenal cortex are classified as cortical carcinoma, cortical adenoma, sex cord stromal tumours, adenomatoid tumour, mesenchymal and stromal tumours (myelolipoma and schwannoma), haematological tumours, and secondary tumours...
May 6, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28421464/a-novel-tp53-mutation-associated-with-twist1-and-sip1-expression-in-an-aggressive-adrenocortical-carcinoma
#7
Daniel Bulzico, Davi Coe Torres, Gerson Moura Ferreira, Bruno Ricardo Barreto Pires, Paulo Antônio Silvestre de Faria, Rocio Hassan, Eliana Abdelhay, Mario Vaisman, Leonardo Vieira Neto
Adrenocortical carcinomas (ACC) are very rare tumors related to TP53 mutations mostly in childhood onset cases. Epithelial-mesenchymal transition (EMT) transcription factors TWIST1 and Smad interacting protein 1 (SIP1) are related to poorer outcomes in other malignancies, but their role in ACC is unknown. We describe a case of an advanced metastatic ACC (Weiss-score of 9) in a patient at age 76. After primary tumor resection, mitotane therapy was started as palliation to low-volume liver metastasis. After a 2-year period of stable disease, the patient died due to brain metastasis...
April 18, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28382483/images-in-endocrine-pathology-unique-composite-adrenal-adenomatoid-tumor-ganglioneuroma-myelolipoma-and-cortical-nodular-hyperplasia
#8
Eleonora Duregon, Marco Volante, Stefano Guzzetti, Ida Rapa, Simona Vatrano, Mauro Papotti
No abstract text is available yet for this article.
April 5, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28444500/metastatic-follicular-thyroid-carcinoma-and-the-primary-thyroid-gross-examination-institutional-review-of-cases-from-1990-to-2015
#9
Krzysztof Glomski, Vania Nosé, William C Faquin, Peter M Sadow
The diagnosis of follicular-patterned carcinomas, including follicular thyroid carcinoma, oncocytic (Hürthle cell) carcinoma, and the encapsulated follicular variant of papillary thyroid carcinoma, requires evidence of capsular and/or vascular invasion. With minimally invasive carcinomas classified often within less than a millimeter of tissue segregating them from adenomas and non-invasive follicular thyroid neoplasms with papillary-like nuclear features, opinions vary internationally over how much of the capsule to submit in order to deem it well enough represented, considering that even if grossly entirely submitted in microcassettes, without leveling through each tissue block, the capsule is truly never entirely examined microscopically...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28389994/neuroendocrine-tumors-of-the-breast
#10
REVIEW
Daniel W Visscher, Saba Yasir
A small but increasingly recognized and studied subset of breast carcinomas are characterized by neuroendocrine (NE) differentiation. As with nearly all forms of breast neoplasia, NE tumors are characterized by considerable heterogeneity in microscopic appearance and clinical aggressiveness. About half of NE breast carcinomas recapitulate the histological spectrum typical of their counterparts in other organ systems, varying from "carcinoid-like" to small cell carcinoma, with most representing intermediate grade tumors...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28386672/malignancy-in-pheochromocytoma-or-paraganglioma-integrative-analysis-of-176-cases-in-tcga
#11
Yong Joon Suh, Ji-Young Choe, Hyo Jin Park
Methods of diagnosing malignant pheochromocytoma (PCC) or paraganglioma (PGL) are needed. However, there are no reliable histopathologic criteria to distinguish malignant PCC/PGLs. The recent genomic analysis of The Cancer Genome Atlas (TCGA) provides in-depth information enabling more accurate diagnosis of disease entities. Therefore, we investigated genomic expression differences and mutational differences of malignant PCC/PGLs with TCGA. As of December 2014, TCGA had acquired multigenomic analysis of 176 PCC/PGL samples...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28378267/gangliocytic-paraganglioma-a-diagnostic-pitfall-of-rare-neuroendocrine-tumor
#12
LETTER
Yoichiro Okubo
No abstract text is available yet for this article.
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28361392/noninvasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-historical-context-diagnosis-and-future-challenges
#13
REVIEW
Bin Xu, Giovanni Tallini, Ronald A Ghossein
The encapsulated/well-demarcated non-invasive form of follicular variant of papillary thyroid carcinoma (FVPTC) that occurs annually in 45,000 patients worldwide was thought for 30 years to be a carcinoma. Many studies have now shown almost no recurrence in these non-invasive tumors, even in patients treated by surgery without radioactive iodine therapy. The categorization of the tumor as cancer has led to aggressive forms of treatment, with their side effects, financial costs, and the psychological and social impact of a cancer diagnosis...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28332062/diagnosis-and-treatment-of-metastases-to-the-thyroid-gland-a-meta-analysis
#14
REVIEW
Patrizia Straccia, Claudia Mosseri, Chiara Brunelli, Esther Diana Rossi, Celestino Pio Lombardi, Alfredo Pontecorvi, Guido Fadda
The thyroid is a rare site of clinically detectable tumor metastases; even though the gland is a highly vascularized structure, the frequency of metastases in the routine practice is less than 0.2% of all thyroid malignancies. The purpose of our meta-analysis is to evaluate the frequency of metastatic diffusion from other primary tumors to the thyroid gland and to suggest the best possible treatment through an evidence-based study. Relevant studies were identified by searching the following databases: PubMed, Scopus, and Web of Science...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28271381/tissue-expression-and-pharmacological-in-vitro-analyses-of-mtor-and-sstr-pathways-in-adrenocortical-carcinoma
#15
Antonina Germano, Ida Rapa, Eleonora Duregon, Arianna Votta, Jessica Giorcelli, Consuelo Buttigliero, Giorgio V Scagliotti, Marco Volante, Massimo Terzolo, Mauro Papotti
New therapies for advanced adrenocortical carcinoma (ACC) are urgently needed, as the majority of the patients experience a rapid and inexorable progression despite surgery and adjuvant mitotane. In vitro data suggest that somatostatin receptors (SSTRs) and mTOR pathway might represent reasonable targets for novel therapies, being involved in functionality and growth of ACC cells. However, in vitro analysis of combination treatments targeting both mTOR and SSTR as compared to mitotane are poorly explored in ACC...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28271380/the-flip-side-of-niftp-an-increase-in-rates-of-unfavorable-histologic-parameters-in-the-remainder-of-papillary-thyroid-carcinomas
#16
Kristine S Wong, Kyle C Strickland, Trevor E Angell, Matthew A Nehs, Erik K Alexander, Edmund S Cibas, Jeffrey F Krane, Brooke E Howitt, Justine A Barletta
The term noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was recently proposed to replace noninvasive follicular variant of papillary thyroid carcinoma (FVPTC) both to promote more conservative management of these tumors and spare patients the psychological burden of a cancer diagnosis. This reclassification will lower the incidence of papillary thyroid carcinoma (PTC). In addition, it could result in an increase in the rates of unfavorable histologic prognosticators for PTC overall because NIFTPs had previously accounted for many of the PTCs without these features...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28258518/adrenocortical-carcinoma-arising-in-an-adrenal-rest-a-case-report-and-review-of-the-literature
#17
Kristine M Cornejo, Henrietta A Afari, Peter M Sadow
Carcinomas arising from embryonic adrenal rests are rare with only a handful of reported cases. We report a case of an adrenocortical carcinoma arising from an adrenal rest located between the bladder and prostate in a 51 year-old man. The patient presented following a year of rectal pain and constipation. Computed tomography (CT) scan revealed a 9 cm pelvic mass that appeared to arise from the soft tissue between the bladder and prostate, with displacement of the organs and narrowing of the rectal lumen, suspected to be a sarcoma...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28176151/frequent-braf-v600e-and-absence-of-tert-promoter-mutations-characterize-sporadic-pediatric-papillary-thyroid-carcinomas-in-japan
#18
Naoki Oishi, Tetsuo Kondo, Tadao Nakazawa, Kunio Mochizuki, Tomohiro Inoue, Kazunari Kasai, Ippei Tahara, Tomonori Yabuta, Mitsuyoshi Hirokawa, Akira Miyauchi, Ryohei Katoh
Pediatric papillary thyroid carcinoma (PTC) has unique features but requires further genetic investigation. Moreover, there has been increasing concern about the risk for pediatric PTC in Japan after the Fukushima accident. This study aims to evaluate the frequencies of BRAF and TERT promoter mutations and to examine their significance in non-radiation-associated pediatric PTCs in Japan. We enrolled 81 pediatric PTC patients aged ≤20 years. The control group included 91 adult PTCs from patients >20 years old...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28091891/adrenal-teratoma-a-case-series-and-review-of-the-literature
#19
Eric J Kuo, Anthony E Sisk, Zhiming Yang, Jiaoti Huang, Michael W Yeh, Masha J Livhits
Adrenal teratomas are rare neoplasms and there is limited data on their surgical outcomes and long-term prognosis. We aimed to review our institutional experience and compare this to the existing literature on adrenal teratomas in adults and children. An institutional pathology database was searched for cases of adrenal teratoma (June 1956-July 2016). Clinical and imaging data were abstracted from the medical records and pathology slides were obtained for review. In addition, a PubMed search for "adrenal teratoma" from June 1952 to July 2016 was performed to identify reports of primary adrenal teratoma in patients of all ages...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28032206/ovarian-adrenal-rest-tumors-undetected-by-imaging-studies-and-identified-at-surgery-in-three-females-with-congenital-adrenal-hyperplasia-unresponsive-to-increased-hormone-therapy-dosage
#20
Hua-Dong Chen, Li-E Huang, Zhi-Hai Zhong, Zhe Su, Hong Jiang, Jing Zeng, Jun-Cheng Liu
Patients with congenital adrenal hyperplasia have a predisposition for developing adrenal rest tumors. In contrast to testicular adrenal rest tumors, ovarian adrenal rest tumors are less common, and only a few cases have been reported in the literature. This report presents three Chinese female congenital adrenal hyperplasia patients (9 to 15 years of age) with small ectopic adrenal cortical nodules that were not detected by imaging but were diagnosed at surgery. All three patients developed virilization with elevation of 17- hydroxyprogesterone, androstenedione, and androgen levels despite receiving maximum adrenal hormone replacement therapy...
June 2017: Endocrine Pathology
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