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Endocrine neoplasia

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https://www.readbyqxmd.com/read/29908090/drug-resistance-profiles-of-mutations-in-the-ret-kinase-domain
#1
Xuan Liu, Tao Shen, Blaine H M Mooers, Frank Hilberg, Jie Wu
BACKGROUND AND PURPOSE: RET alterations are found in thyroid and lung cancer. While RET tyrosine kinase inhibitors (TKIs) are used to treat thyroid cancer and are in clinical trials for RET fusion-positive non-small cell lung cancer (NSCLC), the impact of mutations in the RET kinase domain on drug sensitivity was largely uncharacterized. EXPERIMENTAL APPROACH: We identified and analyzed mutations in the RET kinase domain that conferred resistance to the TKIs cabozantinib, lenvatinib, vandetanib, and nintedanib using RET kinase-dependent BaF3/KIF5B-RET (BaF3/KR) cells...
June 16, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29903750/dna-methylation-profiling-in-men1-related-pancreatic-neuroendocrine-tumors-reveals-a-potential-epigenetic-target-for-treatment
#2
Elfi B Conemans, Lutske Lodewijk, Cathy M Moelans, G Johan A Offerhaus, Carolina R C Pieterman, Folkert H Morsink, Olaf M Dekkers, Wouter W de Herder, Ad R Hermus, Anouk N A van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Lodewijk A A Brosens, Koen M A Dreijerink, Inne H M Borel Rinkes, H Th Marc Timmers, Gerlof D Valk, Menno R Vriens
OBJECTIVE: Epigenetic changes contribute to pancreatic neuroendocrine tumor (PanNET) development. Hypermethylation of promoter DNA as a cause of tumor suppressor gene silencing is a well-established oncogenic mechanism that is potentially reversible and therefore an interesting therapeutic target. Multiple Endocrine Neoplasia type 1 (MEN1) is the most frequent cause of inherited PanNETs. The aim of this study was to determine promoter methylation profiles in MEN1-related PanNETs. DESIGN AND METHODS: Methylation-specific multiplex ligation-dependent probe amplification was used to assess promoter methylation of 56 tumor suppressor genes in MEN1-related (n=61) and sporadic (n=34) PanNETs...
June 14, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29903510/quality-of-life-in-multiple-endocrine-neoplasia-type-2a-compared-with-normative-and-disease-populations
#3
Michael N Mongelli, Benjamin J Peipert, Sneha Goswami, Irene Helenowski, Susan E Yount, Cord Sturgeon
BACKGROUND: Patient-reported outcomes are measured in chronic disease states to inform intervention and management decisions while minimizing negative outcomes. We hypothesized that health-related quality of life in patients with multiple endocrine neoplasia type 2A would be worse than the general US population but similar to other chronic diseases. METHODS: Adults ≥18 years with multiple endocrine neoplasia type 2A were recruited to complete the Patient-Reported Outcomes Measurement Information System 29-item questionnaire (n = 45)...
June 11, 2018: Surgery
https://www.readbyqxmd.com/read/29897580/recent-topics-around-multiple-endocrine-neoplasia-type-1
#4
Stephen J Marx
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago. Methods: Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports and reviews...
April 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29875419/secondary-findings-from-next-generation-sequencing-what-does-actionable-in-childhood-really-mean
#5
Julie Richer, Anne-Marie Laberge
PURPOSE: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework. METHODS: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood. RESULTS: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4)...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29860716/a-case-of-pheochromocytoma-with-negative-mibg-scintigraphy-pet-ct-and-genetic-tests-vhl-included-and-a-rare-case-of-post-operative-erectile-dysfunction
#6
REVIEW
Giuseppe Defeudis, Elvira Fioriti, Andrea Palermo, Dario Tuccinardi, Angelo Minucci, Ettore Capoluongo, Paolo Pozzilli, Silvia Manfrini
BACKGROUND: Pheochromocytoma (Ph) is a rare catecholamine-secreting neuroendocrine tumour that arises from the chromaffin cells of the adrenal medulla. Ph usually presents with symptoms including paroxysmal headache, sweating, palpitations, and hypertension. CLINICAL CASE: During a computed tomography (CT) scan in a normotensive 49-year-old man, an incidentaloma of 4.5 cm was detected. Hypercortisolism was excluded after the dexamethasone suppression test, levels of DHEAS all falling within the normal range...
June 2, 2018: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29848728/co-occurrence-of-men1-p-gly111fs-and-aip-p-arg16his-variants-in-familial-men1-phenotype
#7
Flavia Marques DE Melo, Luciana Bastos-Rodrigues, Maria Marta Sarquis, Eitan Friedman, Luiz DE Marco
BACKGROUND/AIM: Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations. MATERIALS AND METHODS: Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls. RESULTS: A missense variant in AIP (p...
June 2018: Anticancer Research
https://www.readbyqxmd.com/read/29802047/multiple-endocrine-neoplasia-in-children-and-the-importance-of-screening-part-1
#8
Kate Davies
No abstract text is available yet for this article.
May 22, 2018: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29779869/genotypic-characteristics-and-their-association-with-phenotypic-characteristics-of-hereditary-medullary-thyroid-carcinoma-in-korea
#9
Kyong Yeun Jung, Seok-Mo Kim, Min Joo Kim, Sun Wook Cho, Bup-Woo Kim, Yong Sang Lee, Jong Ju Jeong, Kee-Hyun Nam, Woong Youn Chung, Kyu Eun Lee, Eun-Jae Chung, Hyo Jeong Kim, Do Joon Park, Myung-Whun Sung, Cheong Soo Park, Bo Young Cho, Young Joo Park, Hang-Seok Chang
BACKGROUND: Hereditary medullary thyroid carcinoma can present as a part of multiple endocrine neoplasia syndrome by rearranged during transfection gene mutation. We evaluated the prevalence of rearranged during transfection gene mutation in patients who have medullary thyroid carcinoma and the correlations of genotype with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism according to the revised American Thyroid Association risk level. METHODS: A total of 331 patients were diagnosed with medullary thyroid carcinoma, 172 of whom were tested for the rearranged during transfection germline mutation by sequencing of exon 8, 10, 11, and 13-16...
May 17, 2018: Surgery
https://www.readbyqxmd.com/read/29779047/over-diagnosis-of-potential-malignant-behavior-in-men-2a-associated-pheochromocytomas-using-the-pass-and-gapp-algorithms
#10
Adam Stenman, Jan Zedenius, Carl Christofer Juhlin
PURPOSE: Pheochromocytomas (PCCs) exhibit malignant potential, but current histological modalities for the proper detection of aggressive behavior are debated. The two most widespread algorithms are the "Pheochromocytoma of the Adrenal Gland Scaled Score" (PASS) and the "Grading System for Adrenal Pheochromocytoma and Paraganglioma" (GAPP), both which mostly rely on histological parameters to identify PCC patients at risk of disseminated disease. Since the algorithms are derived from studies using predominantly sporadic PCCs, little is known whether the PASS or GAPP scores can predict malignant potential in hereditary cases...
May 19, 2018: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#11
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29765955/pediatric-multiple-endocrine-neoplasia-type-2b-clinicopathological-correlation-of-perilimbal-mucosal-neuromas-and-treatment-of-secondary-open-angle-glaucoma
#12
Ta Chen Chang, Kingsley C Okafor, Kara M Cavuoto, Sander R Dubovy, Carol L Karp
Ocular findings of multiple endocrine neoplasia type 2B (MEN 2B) include prominent corneal nerves, mucosal neuromas of the conjunctiva, glaucoma, and dry eyes. A 15-year-old girl with MEN 2B presents with advanced secondary open-angle glaucoma and bilateral perilimbal masses. High-resolution optical coherence tomography (HR-OCT) of the perilimbal lesions showed normal epithelial thickness and subepithelial lobular areas of mixed reflectivity, which correlates well with histopathologic findings of benign mucosal neuromas...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29744727/immunohistochemical-biomarkers-in-thyroid-pathology
#13
REVIEW
Zubair Baloch, Ozgur Mete, Sylvia L Asa
The application of immunohistochemistry to the diagnosis of thyroid lesions has increased as new biomarkers have emerged. In this review, we discuss the biomarkers that are critical for accurate diagnosis, prognosis, and management. Immunohistochemical markers are used to confirm that an unusual tumor in the thyroid is indeed of thyroid origin, either of follicular epithelial or C-cell differentiation; the various mimics include nonthyroidal lesions such as parathyroid tumors, paragangliomas, thymic neoplasms, and metastatic malignancies...
May 9, 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29743166/exploiting-insights-on-the-ret-receptor-for-personalized-cancer-medicine
#14
Lois M Mulligan
The focus of precision cancer medicine is the use of patient genetic signatures to predict disease occurrence and course and tailor approaches to individualized treatment to improve patient outcomes. The RET receptor tyrosine kinase represents a paradigm for the power of personalized cancer management to change cancer impact and improve quality of life. Oncogenic activation of RET occurs through several mechanisms including activating mutations and increased or aberrant expression. Activating RET mutations found in the inherited cancer syndrome multiple endocrine neoplasia 2 permit early diagnosis, predict disease course, and guide disease management to optimize patient survival...
May 9, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29725435/uncovering-the-heterogeneous-genetic-variations-in-two-insulin-expressing-tumors-in-a-patient-with-men1
#15
Zai Wang, Liguo Liu, Jie Luo, Jing Guo, Min Zhai, Wenjian Zhang, Zhiying Yang
Multiple endocrine neoplasia type 1 (MEN1) is associated with a heterozygous inherited mutation of the menin 1 ( MEN1 ) gene; however, the molecular pathogenesis remains to be fully elucidated. In the present study, whole exome sequencing was performed on two pancreatic neuroendocrine tumors (PNETs), termed T1 and T2, peri-tumoral tissue (PT) and a blood sample obtained from a patient with MEN1. The cells in T1 and T2, but not PT, showed loss of chromosome 11 where MEN1 was located, confirming that the loss of heterozygosity (LOH) of MEN1 was a crucial event in tumorigenesis...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29709408/multiple-endocrine-neoplasia-type-2b-men2b-in-a-9-year-old-female
#16
Solon T Kao, Christopher J Capua, Rafik A Abdelsayed
Multiple endocrine neoplasia (MEN) is an uncommon genetic syndrome transmitted as an autosomal dominant condition characterized by multiple tumors or hyperplasia of neuroendocrine tissues. MEN type 2b (MEN2B) often has clinical signs of marfanoid facial appearance and mucosal neuromas of the head. This report describes the diagnosis of MEN2B in a previously undiagnosed 9 year old who presented for biopsy of an oral lesion.
April 7, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29707086/epigenetics-of-metabolic-syndrome-as-a-mood-disorder
#17
REVIEW
Sermin Kesebir
Mood disorders comprise major depressive disorder (MDD), bipolar disorder (BD) and the milder forms of these two disorders. Reccurring MDD is also known as unipolar disorder. The distinction between unipolar and bipolar disorders was first suggested in 1957 by Leonard and was made official after support by several studies in 1980. Indeed, in 150 AD, Aretaeus of Cappadocia wrote "It seems to me that melancholia is the beginning and a part of mania". Additionally, Kraepelin, who proposed the first medical disease model in psychiatry a century ago, considered recurrent unipolar depression cases under the category of bipolar disorder and conceptualized spectrum disorders...
June 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29698969/endoscopic-ultrasound-features-of-multiple-endocrine-neoplasia-type-1-related-versus-sporadic-pancreatic-neuroendocrine-tumors-a-single-center-retrospective-study
#18
Gianluca Tamagno, Vanessa Scherer, Alberto Caimo, Simona R Bergmann, Peter H Kann
AIM: Pancreatic neuroendocrine tumors (pNETs) can occur in patients with a familial syndrome either as multiple endocrine neoplasia type 1 (MEN-1) or as sporadic tumors. Endoscopic ultrasound (EUS) has become one of the first-line investigations for pNET characterization. The ultrasonographic features of pNETs may differ depending on the familial versus sporadic pathogenesis of the tumor. Therefore, the EUS findings could help and direct the definition of a pNET with an impact on the most appropriate diagnostic and therapeutic patient management...
April 26, 2018: Digestion
https://www.readbyqxmd.com/read/29677893/re-multiple-endocrine-neoplasia-type-1
#19
Dean G Assimos
No abstract text is available yet for this article.
May 2018: Journal of Urology
https://www.readbyqxmd.com/read/29663723/intraocular-metastasis-of-medullary-thyroid-carcinoma-investigated-by-transscleral-fine-needle-aspiration-a-case-report-and-review-of-the-literature
#20
Małgorzata Gajdzis, Nathalie Cassoux, Maria Lesnik, Caroline Hoffmann, Nathalie Badois, Paweł Gajdzis, Jerzy Klijanienko
Medullary thyroid carcinoma occurs in a sporadic setting and may also be inherited in an autosomal dominant fashion, which is related with germline mutations of the RET gene. Metastases are often present at the time of a diagnosis-most frequently within the cervical lymph nodes, followed by the liver, lungs, and bones. Intraocular metastases are extremely rare. We present a case of choroidal metastasis as a first presentation of disease progression in a patient with Multiple Endocrine Neoplasia type 2A syndrome (MEN2A) who had undergone thyroidectomy 33 years earlier for medullary thyroid carcinoma...
April 16, 2018: Diagnostic Cytopathology
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