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https://www.readbyqxmd.com/read/29675587/a-case-of-gastric-neuroendocrine-neoplasm-with-mixed-grade-a-distinct-type-of-high-grade-well-differentiated-neuroendocrine-neoplasm
#1
Elia Guadagno, Gaetano Luglio, Alessandro Iacobelli, Giorgio Borrelli, Antonio Castaldi, Gaetano De Rosa, Marialaura Del Basso De Caro
Grade 3 neuroendocrine tumor (NET G3) is a rare new entity that has recently been introduced in the classification of neuroendocrine neoplasms of the pancreas. It is a well-differentiated form, with a high proliferative activity (Ki67 > 20%), and it represents a category whose prognosis is intermediate between NET G2 and poorly differentiated neuroendocrine carcinoma (NEC G3). In sites other than the pancreas, this new category is by far less coded. Herein is reported a case of NET G3 of the stomach, the 13th described in literature...
April 19, 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#2
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29629919/hibernoma-mimicking-atypical-lipomatous-tumor-64-cases-of-a-morphologically-distinct-subset
#3
Youssef Al Hmada, Inga-Marie Schaefer, Christopher D M Fletcher
Hibernoma is a benign adipocytic tumor with predilection for subcutaneous tissue of the thigh, upper trunk, and neck of middle-aged adults. 11q13 rearrangement resulting in MEN1/AIP codeletion is characteristic. Hibernomas are composed, in varying proportions, of brown fat cells, mature adipocytes, and microvacuolated lipoblast-like cells. Examples containing predominantly multivacuolated lipoblast-like cells are uncommon and distinction from atypical lipomatous tumor (ALT) is important for clinical management...
April 6, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29618015/high-fear-of-disease-occurrence-is-associated-with-low-quality-of-life-in-patients-with-multiple-endocrine-neoplasia-type-1-men1-results-from-the-dutch-men1-study-group
#4
Rachel S van Leeuwaarde, Carolina R C Pieterman, Eveline M A Bleiker, Olaf M Dekkers, Anouk N van der Horst-Schrivers, Ad R Hermus, Wouter W de Herder, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Menno R Vriens, Gerlof D Valk
Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary disease characterized by a high risk of developing primary hyperparathyroidism, duodenopancreatic neuroendocrine tumors (dpNETs) and pituitary tumors (PIT). Up to now, it is unclear if having MEN1 leads to psychological distress because of fear of disease occurrence (FDO), thereby potentially affecting quality of life. Design: A cross-sectional study was performed using the Dutch MEN1 cohort. All patients received the Cancer Worry Scale (score ≥ 14 reflecting high FDO), the SF-36 Health Related Quality of Life questionnaire (SF-36) and questions on sociodemographic and medical history...
March 30, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29615472/epigenetic-regulation-in-the-tumorigenesis-of-men1-associated-endocrine-cell-types
#5
Sucharitha Iyer, Sunita K Agarwal
Epigenetic regulation is emerging as a key feature in the molecular characteristics of various human diseases. Epigenetic aberrations can occur from mutations in genes associated with epigenetic regulation, improper deposition, removal or reading of histone modifications, DNA methylation/demethylation, and impaired non-coding RNA interactions in chromatin. Menin, the protein product of the gene causative for the multiple endocrine neoplasia type 1 (MEN1) syndrome, interacts with chromatin-associated protein complexes and also regulates some non-coding RNAs, thus participating in epigenetic control mechanisms...
April 3, 2018: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/29607201/clinical-implication-of-men1-mutation-in-surgically-resected-thymic-carcinoid-patients
#6
Xiongfei Li, Mingbiao Li, Tao Shi, Renwang Liu, Dian Ren, Fan Yang, Sen Wei, Gang Chen, Jun Chen, Song Xu
Thymic carcinoid is a rare but very aggressive neuroendocrine tumour derived from the neuroendocrine system. Here we report a male patient with thymic atypical carcinoid. Though thymic carcinoid is relatively common, the gene sequencing profile was performed and the gene sequencing result indicated germline multiple endocrine neoplasia type 1 (MEN1) mutation and two somatic mutations on MEN1 gene and no copy number variation or fusion events were detected. It is well-known that the mutation of MEN1 is the typical manifestation of MEN1 syndrome, which is an autosome dominant disease that includes varying combinations of more than 20 endocrine and non-endocrine tumors...
February 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29596894/pancreatic-neuroendocrine-carcinomas-reveal-a-closer-relationship-to-ductal-adenocarcinomas-than-to-neuroendocrine-tumors-g3
#7
Björn Konukiewitz, Moritz Jesinghaus, Katja Steiger, Anna Melissa Schlitter, Atsuko Kasajima, Bence Sipos, Giuseppe Zamboni, Wilko Weichert, Nicole Pfarr, Günter Klöppel
Pancreatic neuroendocrine carcinoma is a rare aggressive tumor commonly harboring TP53 and RB1 alterations and lacking neuroendocrine related genetic changes such as mutations in MEN1 and ATRX/DAXX. Little is known about its genetic profile with regard to that of pancreatic ductal adenocarcinoma. We therefore conducted a detailed genetic study in 12 pancreatic neuroendocrine carcinomas of large cell (n=9) and small cell type (n=3) using massive parallel sequencing applying a 409 gene panel on an Ion Torrent system...
March 26, 2018: Human Pathology
https://www.readbyqxmd.com/read/29521944/site-specific-genomic-alterations-in-a-well-differentiated-pancreatic-neuroendocrine-tumor-with-high-grade-progression
#8
David R Martin, Elisa LaBauve, Joseph M Pomo, Vi K Chiu, Joshua A Hanson, Rama R Gullapalli
The major categories of pancreatic neuroendocrine tumor (PanNET) are well-differentiated NET and poorly differentiated neuroendocrine carcinoma. Sequencing of these tumors has identified multiple important genes in the pathogenesis of PanNETs, such as DAXX/ATRX, MEN1, TP53, RB, and mTOR pathway genes. We identified a case of well-differentiated PanNET with high-grade progression with simultaneous low- and high-grade histologic regions containing variable genomic profiles. We performed tumor microdissection and analyzed both regions using a 409-gene comprehensive cancer panel using next-generation sequencing in addition to immunohistochemical and morphologic studies...
April 2018: Pancreas
https://www.readbyqxmd.com/read/29504908/exome-analysis-of-carotid-body-tumor
#9
Anastasiya V Snezhkina, Elena N Lukyanova, Dmitry V Kalinin, Anatoly V Pokrovsky, Alexey A Dmitriev, Nadezhda V Koroban, Elena A Pudova, Maria S Fedorova, Nadezhda N Volchenko, Oleg A Stepanov, Ekaterina A Zhevelyuk, Sergey L Kharitonov, Anastasiya V Lipatova, Ivan S Abramov, Alexander V Golovyuk, Yegor E Yegorov, Khava S Vishnyakova, Alexey A Moskalev, George S Krasnov, Nataliya V Melnikova, Dmitry S Shcherbo, Marina V Kiseleva, Andrey D Kaprin, Boris Y Alekseev, Andrew R Zaretsky, Anna V Kudryavtseva
BACKGROUND: Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated. METHODS: Exome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA)...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29503567/the-investigation-for-potential-modifier-genes-in-patients-with-neurofibromatosis-type-1-based-on-next-generation-sequencing
#10
Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen
Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29498920/update-on-the-clinicopathology-of-pituitary-adenomas
#11
Chung Thong Lim, Márta Korbonits
Pituitary adenomas are the third most common central nervous system tumours and arise from the anterior pituitary within the pituitary fossa. The signs and symptoms of patients with pituitary adenomas vary from 'mass effects' caused by a large adenoma to features secondary to excess pituitary hormones produced by the functioning pituitary adenoma. Detailed histopathological assessment, based on novel classifications and the latest WHO guidelines, helps to categorise pituitary adenomas into different subtypes and identify features that, in some cases, help to predict their behaviour...
March 2, 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29497973/multiple-endocrine-neoplasia-type-1-analysis-of-germline-men1-mutations-in-the-italian-multicenter-men1-patient-database
#12
Francesca Marini, Francesca Giusti, Caterina Fossi, Federica Cioppi, Luisella Cianferotti, Laura Masi, Francesca Boaretto, Stefania Zovato, Filomena Cetani, Annamaria Colao, Maria Vittoria Davì, Antongiulio Faggiano, Giuseppe Fanciulli, Piero Ferolla, Diego Ferone, Paola Loli, Franco Mantero, Claudio Marcocci, Giuseppe Opocher, Paolo Beck-Peccoz, Luca Persani, Alfredo Scillitani, Fabiana Guizzardi, Anna Spada, Paola Tomassetti, Francesco Tonelli, Maria Luisa Brandi
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date. METHODS: The study included the analysis of MEN1 mutation profile in 410 MEN1 patients [370 familial cases from 123 different pedigrees (48 still asymptomatic at the time of this study) and 40 single cases]...
March 1, 2018: Endocrine
https://www.readbyqxmd.com/read/29496634/men1-tumor-suppressor-gene-is-required-for-long-term-memory-formation-in-an-aversive-operant-conditioning-model-of-lymnaea-stagnalis
#13
Nancy Dong, Anthony Senzel, Kathy Li, Tom Z Lu, Cong-Hui Guo, Mila Aleksic, Zhong-Ping Feng
Activity-dependent transcription factors critically coordinate the gene expression program underlying memory formation. The tumour suppressor gene, MEN1, encodes a ubiquitously expressed transcription regulator required for synaptogenesis and synaptic plasticity in invertebrate and vertebrate central neurons. In this study, we investigated the role of MEN1 in long-term memory (LTM) formation in an aversive operant conditioning paradigm in the freshwater pond snail Lymnaea stagnalis (L. stagnalis). We demonstrated that LTM formation is associated with an increased expression of MEN1 coinciding with an up-regulation of creb1 gene expression...
February 26, 2018: Neuroscience
https://www.readbyqxmd.com/read/29486199/loss-of-chromatin-remodeling-proteins-and-or-cdkn2a-associates-with-metastasis-of-pancreatic-neuroendocrine-tumors-and-reduced-patient-survival-times
#14
Somak Roy, William A LaFramboise, Ta-Chiang Liu, Dengfeng Cao, Alyssa Luvison, Caitlyn Miller, Maureen A Lyons, Roderick J O'Sullivan, Amer H Zureikat, Melissa E Hogg, Allan Tsung, Kenneth K Lee, Nathan Bahary, Randall E Brand, Jennifer S Chennat, Kenneth E Fasanella, Kevin McGrath, Marina N Nikiforova, Georgios I Papachristou, Adam Slivka, Herbert J Zeh, Aatur D Singhi
Despite prognostic grading and staging systems, it is a challenge to predict outcomes for patients with pancreatic neuroendocrine tumors (PanNETs). Sequencing studies of PanNETs have identified alterations in death domain-associated protein (DAXX) and ATRX chromatin remodeler (ATRX). In tumors, mutations in DAXX or ATRX and corresponding loss of protein expression correlate with shorter times of disease-free survival and disease-specific survival of patients. However, DAXX or ATRX proteins were lost in only 50% of distant metastases analyzed...
February 24, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29481652/novel-dual-action-targeted-nanomedicine-in-mice-with-metastatic-thyroid-cancer-and-pancreatic-neuroendocrine-tumors
#15
Naris Nilubol, ZiQiang Yuan, Giulio F Paciotti, Lawrence Tamarkin, Carmen Sanchez, Kelli Gaskins, Esther M Freedman, Shugeng Cao, Jielu Zhao, David G I Kingston, Steven K Libutti, Electron Kebebew
Background: The advantages of nanomedicines include preferential delivery of the payload directly to tumor tissues. CYT-21625 is the novel, first-in-class gold nanomedicine designed to target tumor vasculature and cancer cells by specifically delivering recombinant human tumor necrosis factor alpha (rhTNF) and a paclitaxel prodrug. Methods: We analyzed TNF receptor expression in publicly available gene expression profiling data and in thyroid tissue samples. Mice with metastatic FTC-133 and 8505C xenografts and the MEN1 conditional knock-out mice were treated weekly with CYT-21625 and gold nanoparticles with rhTNF only (CYT-6091); controls included mice treated with either paclitaxel or saline...
February 22, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29469743/treatment-of-selective-antibody-deficiency-with-ivig-resulting-in-decreased-frequency-of-streptococcal-infection-and-improvement-of-guttate-psoriasis
#16
Maulik M Dhandha, Elaine C Siegfried, Alan P Knutsen
The association between guttate psoriasis and infection with group A Streptococcus (GAS) has been well established in the medical literature. However, responses to treatments aimed at GAS eradication such as systemic antibiotics or tonsillectomy are inconsistent. Further complicating treatment recommendations for a disease with a suspected microbial trigger, the standard therapy for severe psoriasis is with systemic immunosuppressant medications. This case report illustrates the role of GAS as a trigger for acute onset severe psoriasis in a child whose skin disease initially worsened with a trial of methotrexate...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29468058/a-patient-with-men1-and-end-stage-chronic-kidney-disease-due-to-alport-syndrome-decision-making-on-the-eligibility-of-transplantation
#17
Antonio Matrone, Alessandro Brancatella, Piero Marchetti, Enrico Vasile, Ugo Boggi, Rossella Elisei, Filomena Cetani, Claudio Marcocci, Paolo Vitti, Francesco Latrofa
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29467239/frequency-and-consequence-of-the-recurrent-yy1-p-t372r-mutation-in-sporadic-insulinomas
#18
Vaishali I Parekh, Sita D Modali, James Welch, William Simonds, Lee Scott Weinstein, Electron Kebebew, Sunita K Agarwal
Extract: Pancreatic neuroendocrine tumors (PNETs/pNETs/p-NETs/PanNETs) are rare endocrine neoplasms that can be either functioning tumors that secrete hormones characteristic of their endocrine cell of origin, or nonfunctioning tumors. The most common functioning PNETs are the insulin-secreting b-cell tumors (insulinomas) that are mainly sporadic, but may also occur in 10% of patients with the hereditary tumor syndrome multiple endocrine neoplasia type 1 (MEN1) (OMIM ID: 131100). Patients with the MEN1 syndrome carry a heterozygous germline inactivating mutation in the MEN1 tumor suppressor gene and specific somatic loss of the normal MEN1 allele, leading to endocrine tumors mainly of the parathyroids, pituitary and pancreas (PNETs)...
February 21, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29454048/new-insights-into-the-molecular-characteristics-of-pulmonary-carcinoids-and-large-cell-neuroendocrine-carcinomas-and-the-impact-on-their-clinical-management
#19
REVIEW
J L Derks, N Leblay, S Lantuejoul, A M Dingemans, E J M Speel, L Fernandez-Cuesta
Carcinoids and large-cell neuroendocrine carcinomas (LCNEC) are rare neuroendocrine lung tumors. Here we provide an overview of the most updated data on the molecular characteristics of these diseases. Recent genomic studies showed that carcinoids generally contain a low mutational burden and few recurrently mutated genes. Most of the reported mutations occur in chromatin-remodeling genes (e.g. MEN1), and few affect genes of the PI3K-AKT-mTOR pathway. Aggressive disease has been related to chromothripsis, DNA-repair gene mutations, loss of OTP/CD44, and upregulation of RET gene expression...
February 14, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29449689/current-and-emerging-therapies-for-pnets-in-patients-with-or-without-men1
#20
REVIEW
Morten Frost, Kate E Lines, Rajesh V Thakker
Pancreatic neuroendocrine tumours (PNETs) might occur as a non-familial isolated endocrinopathy or as part of a complex hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1). MEN1 is an autosomal dominant disorder characterized by the combined occurrence of PNETs with tumours of the parathyroids and anterior pituitary. Treatments for primary PNETs include surgery. Treatments for non-resectable PNETs and metastases include biotherapy (for example, somatostatin analogues, inhibitors of receptors and monoclonal antibodies), chemotherapy and radiological therapy...
February 16, 2018: Nature Reviews. Endocrinology
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