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Endocrine neoplasia

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https://www.readbyqxmd.com/read/28080901/cerebellar-and-mesencephalon-neoplasia-in-a-nile-hipoppotamus-hippopotamus-amphibious
#1
Francesca Schiaffino, Samantha J Sander, Marcia E Pereira Bacares, Katie J Barnes, Matti Kiupel, Timothy Walsh, Suzan Murray
A 52-yr-old female Nile hippopotamus ( Hippopotamus amphibious ) was presented for acute onset anorexia, depression, lethargy, instability, and weakness in the pelvic limbs. Clinical signs were rapidly progressive, despite empiric therapy with anti-inflammatory medications, resulting in the death of the animal. Gross necropsy evaluation revealed two tan, firm masses in the cerebellum and mesencephalon and a single mass in the right cranial adrenal gland. All three masses had a similar histologic morphology, and immunohistochemical investigation confirmed the general diagnosis of an adenocarcinoma, but the exact cell of origin remains unclear...
December 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28070481/lung-adenocarcinoma-and-adrenocortical-carcinoma-in-a-patient-with-multiple-endocrine-neoplasia-type-1
#2
Nobumasa Ohara, Masanori Kaneko, Masahiro Ikeda, Fumio Ishizaki, Kazuya Suzuki, Ryo Maruyama, Takeshi Komeyama, Kazuhiro Sato, Kenichi Togashi, Hiroyuki Usuda, Yuto Yamazaki, Hironobu Sasano, Kenzo Kaneko, Kyuzi Kamoi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors. Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28011308/assessing-for-multiple-endocrine-neoplasia-type-1-in-patients-evaluated-for-zollinger-ellison-syndrome-clues-to-a-safer-diagnostic-process
#3
Naykky Singh Ospina, Diane Donegan, Rene Rodriguez-Gutierrez, Zahraa Al-Hilli, William F Young
BACKGROUND: Zollinger-Ellison syndrome is a rare cause of tumoral hypergastrinemia; one out of 5 patients with this syndrome also has multiple endocrine neoplasia type 1. The diagnosis of this disease is complicated by the widespread use of proton pump inhibitors that can elevate serum gastrin levels, the cornerstone for biochemical diagnosis. Abrupt discontinuation of proton pump inhibitors could lead to adverse outcomes. Clinician awareness regarding the relationship of Zollinger Ellison syndrome and multiple endocrine neoplasia type 1, could lead to a safer diagnostic pathway...
December 20, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/28007956/upregulation-of-rpa2-promotes-nf-%C3%AE%C2%BAb-activation-in-breast-cancer-by-relieving-the-antagonistic-function-of-menin-on-nf-%C3%AE%C2%BAb-regulated-transcription
#4
Chao-Chung Chen, Chi-Wen Juan, Kuan-Yu Chen, Yi-Chien Chang, Janq-Chang Lee, Ming-Chung Chang
RPA2, a subunit of the heterotrimeric replication protein A (RPA) complex, is overexpressed in various cancers. In this study, we showed a significant RPA2 upregulation in breast cancer tissues and cell lines. Ectopic expression of RPA2 in MCF7 and MDA-MB-231 cells promoted cell proliferation, adhesion, migration and invasion, and induced epithelial-mesenchymal transition (EMT) of MCF7 cells. Ablation of RPA2 in MDA-MB-231 cells induced apoptosis and suppressed colony formation, EMT and invasion. Binding assays indicated that menin, the MEN1 (multiple endocrine neoplasia type 1) tumor suppressor gene product, interacted with RPA2...
December 22, 2016: Carcinogenesis
https://www.readbyqxmd.com/read/28005977/should-the-prevalence-of-incidental-thyroid-cancer-determine-the-extent-of-surgery-in-multinodular-goiter
#5
Krzysztof Kaliszewski, Marta Strutyńska-Karpińska, Agnieszka Zubkiewicz-Kucharska, Beata Wojtczak, Paweł Domosławski, Waldemar Balcerzak, Tadeusz Łukieńczuk, Zdzisław Forkasiewicz
BACKGROUND: The most appropriate surgical procedure for multinodular goiter (MNG) remains under debate. Incidental thyroid carcinoma (ITC) is often identified on histopathological examination after thyroidectomy performed for presumed benign MNG. AIM OF THE STUDY: The aim of the study was to determine the value of radical surgery for MNG patients considering the prevalence of ITC diagnosed postoperatively. MATERIALS AND METHODS: We conducted retrospective analysis of the medical records of 2,306 patients surgically treated for MNG between 2008 and 2013 at one center...
2016: PloS One
https://www.readbyqxmd.com/read/27995993/prkar1a-is-a-functional-tumor-suppressor-inhibiting-erk-snail-e-cadherin-pathway-in-lung-adenocarcinoma
#6
Shaoqiang Wang, Yuanda Cheng, Yingying Zheng, Zhiwei He, Wei Chen, Wolong Zhou, Chaojun Duan, Chunfang Zhang
Protein Kinase cAMP-Dependent Regulatory Type I Alpha (PRKAR1A) is a tissue-specific extinguisher that transduces a signal through phosphorylation of different target proteins. Loss of PRKAR1A was frequently observed in endocrine neoplasia and stromal cell tumors. However, a few cases were seen in epithelial tumors. Previously, we first found that PRKAR1A was downregulated in lung adenocarcinoma patients. Thus, the present study aimed to clarify its clinical implication and biological function as a tumor suppressor in lung adenocarcinoma...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27994876/disease-modifying-polymorphisms-and-c609y-mutation-of-ret-associated-with-high-penetrance-of-phaeochromocytoma-and-low-rate-of-mtc-in-men2a
#7
Rowena Speak, Jackie Cook, Barney Harrison, John Newell-Price
: Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Patients with other RET mutations are at higher risk of younger age onset phaeochromocytoma if they also possess other RET polymorphisms (L769L, S836S, G691S and S904S), but there are no similar data for patients with 609 mutations...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27994400/in-vivo-confocal-microscopic-architecture-of-corneal-nerves-in-a-case-of-multiple-endocrine-neoplasia-type-2b
#8
Chintan Malhotra, Arun Kumar Jain, Bikram Thapa, Sabin Sahu
A detailed ocular examination and in vivo confocal microscopy (IVCM) using the Heidelberg retinal tomograph 3 with Rostock cornea module were performed in a patient with multiple endocrine neoplasia (MEN) 2b syndrome. Ocular findings included ptosis secondary to thickening of the lid margins, subconjunctival and perilimbal neuromas, and prominent corneal nerves extending up to the pupillary area. IVCM demonstrated structural alterations of both the main nerve trunks and the smaller branches. The main nerve trunks were grossly thickened while the smaller fibers were present in an intertwining manner in the anterior stroma...
October 2016: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/27994341/anesthetic-management-of-clinically-silent-familial-pheochromocytoma-with-men-2a-a-report-of-four-cases
#9
Shipra Aggarwal, Vandana Talwar, Pooja Virmani, Suniti Kale
Familial pheochromocytomas are commonly associated with multiple endocrine neoplasia type 2 (MEN 2) syndrome. Majority of the patients present with normal clinical and biochemical parameters in the preoperative period, the incidence of hypertension being only 50 %. Even though patients may be clinically asymptomatic, surveillance and proper preoperative evaluation is important, as surgery for associated tumors may precipitate a hypertensive crisis and result in severe complications. A family of 19 members, of which 12 were positive for MEN 2A syndrome, presented to our hospital...
October 2016: Indian Journal of Surgery
https://www.readbyqxmd.com/read/27979480/location-of-abnormal-parathyroid-glands-lessons-from-810-parathyroidectomies
#10
Melissa LoPinto, Gustavo A Rubio, Zahra F Khan, Tanaz M Vaghaiwalla, Josefina C Farra, John I Lew
BACKGROUND: Primary hyperparathyroidism (pHPT) is commonly treated with targeted parathyroidectomy (PTX) guided by preoperative imaging and intraoperative parathormone monitoring. Despite advanced imaging techniques, failure of parathyroid localization still occurs. This study determines the anatomical distribution of single abnormal parathyroid glands, which may help direct the surgeon in PTX when preoperative localization is unsuccessful. METHODS: A retrospective review of prospectively collected data of 810 patients with pHPT who underwent initial PTX at a tertiary medical center was performed...
January 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/27975336/growth-rate-of-small-pancreatic-neuroendocrine-tumors-in-multiple-endocrine-neoplasia-type-1-results-from-an-endoscopic-ultrasound-based-cohort-study
#11
Wouter F W Kappelle, Gerlof D Valk, Max Leenders, Leon M G Moons, Auke Bogte, Peter D Siersema, Frank P Vleggaar
Background and aims In multiple endocrine neoplasia type 1 (MEN1), endoscopic ultrasound (EUS) is used for identification and follow-up of pancreatic neuroendocrine tumors (PNETs). The role of EUS in surveillance of small ( < 20 mm) PNETs is unclear, mostly because the natural course of these lesions is largely unknown. We aimed to determine annual growth and incidence rate of small PNETs in patients with MEN1 using EUS-based surveillance. Patients and methods Linear array EUS procedures in patients with MEN1 between 2002 and 2015 were identified...
January 2017: Endoscopy
https://www.readbyqxmd.com/read/27966750/acidic-and-basic-fibroblast-growth-factor-expression-levels-in-cervical-cancer-and-their-effects-on-tumor-cell-proliferation
#12
Q H Zhang, P Xu, Y X Lu, H T Dou
Fibroblast growth factors (FGFs) play important roles in angiogenesis, wound healing, embryonic development, and endocrine signaling pathways. Increasingly, recent studies have reported aberrant FGF expression in various malignancies. However, the involvement of FGFs in cervical carcinoma pathogenesis remains unclear. We aimed to investigate expression of acidic (aFGF) and basic FGF (bFGF) in patients with this disease, and assess their effects on cervical cancer cell proliferation. Twenty cervical cancer patients and 10 cervical intraepithelial neoplasia (CIN) patients were recruited, and 10 cancer-free individuals were included as controls...
December 2, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27959889/childhood-neuroendocrine-tumours-a-descriptive-study-revealing-clues-for-genetic-predisposition
#13
I J Diets, I D Nagtegaal, J Loeffen, I de Blaauw, E Waanders, N Hoogerbrugge, M C J Jongmans
BACKGROUND: Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs. METHODS: Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483). RESULTS: The incidence of paediatric NETs in the Netherlands is 5...
December 13, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27955848/-intrathyroidal-location-of-parathyroid-glands-atypical-presentation-of-multiple-endocrine-neoplasia-type-1-syndrome
#14
Marta de la Fuente-Bartolomé, Alejando Moreno-Bargueiras, Irene Osorio-Silla, José Ignacio Martínez-Pueyo, Felipe de la Cruz-Vigo, Lara Gutiérrez-Ashling
BACKGROUND: The most common manifestation of MEN 1 syndrome is primary hyperparathyroidism (PHPT) with parathyroid multiglandular affectation. The intrathyroidal situation represents 3-4% of all glands, and it is the second most frequent location in the cervical ectopias. CLINICAL CASE: 11 year old patient, with a family history of MEN1 syndrome and carrier of this same mutation. Patient presents HPTP with osteopenia. The cervical ultrasound shows three compatible images with pathological parathyroid glands (bilateral lower and upper left)...
December 9, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#15
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27938622/-ret-pro-oncogene-and-medullary-thyroid-carcinoma
#16
Y Wang, L L Du, S H Hou, C Z Han, X W Zhao, W G Wang, X Q Xu, J X Jing
Medullary thyroid carcinoma (MTC) originats from the parafollicular C cells of the thyroid, which is one of the most aggressive forms of thyroid malignancy with the poor prognosis. Hereditary MTC has multiple endocrine neoplasia types 1, 2A and 2B. The mutation of RET proto-oncogene has been identified as the main cause of MTC, and all mutations locate among the exons 5, 8, 10, 11, 13, 14, 15, and 16. Mutation analysis of the RET may provide a theoretical basis for the prevention, diagnosis and treatment of MTC...
November 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/27928793/-subtype-classification-and-clinicopathological-characteristics-of-gastric-neuroendocrine-neoplasms-an-analysis-of-241-cases
#17
Pan Zhang, Yu Zhang, Chi Zhang, Yanfen Shi, Jixi Liu, Qing Liu, Lili Yu, Miao Wang, Guoming Zou, Jie Lou, Jie Chen, Huangying Tan
OBJECTIVE: To study subtype classification of gastric neuroendocrine neoplasm (NEN) and their clinicopathological characteristics in order to provide reference for clinical practice. METHODS: Clinicopathological data of 241 gastric NEN patients (174 cases from China-Japan Friendship Hospital and 67 cases from The First Affiliated Hospital of Sun Yat-Sen University) between January 2011 and June 2016 were retrospectively summarized. According to serum gastrin, 24-hour intragastric pH monitoring and pathological grade, patients with gastric NEN were divided into 4 types: type I( (hypergastrinemia and achlorhydria, related to autoimmune chronic atrophic gastritis), type II( [hypergastrinemia and Zollinger-Ellison syndrome, related to gastrinoma or multiple endocrine neoplasia type I( (MEN-I()], type III( (sporadic disease with normal serum gastrin level), and type IIII( [poorly differentiated gastric neuroendocrine carcinoma (NEC) and mixed adenoneuroendocrine carcinoma (MANEC)]...
November 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27928436/parathyroidectomy-is-vitamin-d-a-player-for-a-good-outcome
#18
REVIEW
Carsote M, Paduraru Dn, Nica Ae, Valea A
Background: The field of parathyroidectomy (PTx) is complex and brings together many specialists. Even if the surgical approaches changed from classical to minimally invasive PTx, a good outcome is correlated with an adequate localization before and during PTx, while blood assays, such as parathormone (PTH) or 25-hydroxyvitamin D, become useful additional markers. Aim. Specific aspects related to parathyroidectomy and vitamins D (VD) were introduced. Material and Method. The article represents a PubMed-based narrative review...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#19
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27904855/multiple-endocrine-neoplasia-type-1-with-anterior-mediastinal-parathyroid-adenoma-successful-localization-using-tc-99m-sestamibi-spect-ct
#20
Hye Lim Park, Ie Ryung Yoo, Sung Hoon Kim, Sohee Lee
The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid adenoma in the mediastinal para-aortic region, which was detected by technetium-99m (Tc-99m) sestamibi scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT)...
December 2016: Annals of Surgical Treatment and Research
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