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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
#1
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
#2
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
https://www.readbyqxmd.com/read/29440180/resistance-promoting-effects-of-ependymoma-treatment-revealed-through-genomic-analysis-of-multiple-recurrences-in-a-single-patient
#3
Christopher A Miller, Sonika Dahiya, Tiandao Li, Robert Fulton, Matthew D Smyth, Gavin P Dunn, Joshua B Rubin, Elaine R Mardis
BACKGROUND: As in other brain tumors, multiple recurrences after complete resection and irradiation of supratentorial ependymoma are common and frequently result in patient death. This standard-of-care treatment was established in the pre-genomic era without the ability to evaluate the effect that mutagenic therapies may exert on tumor evolution and in promoting resistance, recurrence, and death. We seized a rare opportunity to characterize treatment effects and the evolution of a single patient's ependymoma across four recurrences after different therapies...
February 13, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29435419/two-nonsense-somatic-mutations-in-men1-identified-in-sporadic-insulinomas
#4
Cheng Qi, Jiayue Duan, Qingfeng Shi, Mingguang Wang, Changqing Yan
Insulinomas are functional pancreatic neuroendocrine tumors that cause hypoglycemia and severe morbidity. The aim of our study was to identify gene mutations responsible for tumorigenesis of sporadic insulinoma. Whole exome sequencing analysis was performed on tumors and paired peripheral blood from three patients with insulinomas. After initial analysis, somatic mutations were obtained and a deleterious protein product was further predicted by various bioinformatic programs. Whole exome sequencing identified 55 rare somatic mutations among three insulinoma patients, including MEN1 gene nonsense mutations (c...
February 2018: FEBS Open Bio
https://www.readbyqxmd.com/read/29416715/long-term-follow-up-and-novel-splice-donor-mutation-in-men1-in-a-chinese-family
#5
Minghao Li, Qianqian Liu, Peihua Liu, Xiaoping Yi, Xiao Guan, Anze Yu, Longfei Liu, Feizhou Zhu
Heterozygous germline mutation of the MEN1 tumor suppressor gene is responsible for multiple endocrine neoplasia type 1. Parathyroid and thoracic neuroendocrine tumor specimens and DNA from two Han Chinese MEN1 family patients were analyzed using whole exome and Sanger sequencing. The proband (II-3) was sequentially diagnosed with pituitary adenoma, pancreatic tumor, adrenal cortical tumor, abdominal lipoma, and parathyroid adenoma during the 6-year follow-up. The son of the proband (III-6) was also diagnosed with a thoracic neuroendocrine tumor and a parathyroid adenoma during this period...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29408534/probability-of-positive-genetic-testing-results-in-patients-with-family-history-of-primary-hyperparathyroidism
#6
Mustapha El Lakis, Pavel Nockel, Apostolos Gaitanidis, Bin Guan, Sunita Agarwal, James Welch, William F Simonds, Lee Weinstein, Stephen Marx, Naris Nilubol, Dhaval Patel, Roxanne Merkel, Amit Tirosh, Electron Kebebew
BACKGROUND: Approximately 10% of patients with primary hyperparathyroidism (PHPT) have hereditary disease. Hereditary PHPT may be syndromic (multiple endocrine neoplasia (MEN1, 2, 4), hyperparathyroidism-jaw tumor syndrome) or non-syndromic (familial isolated primary hyperparathyroidism). There are limited data on the probability of testing positive for genetic mutation based on clinical presentation. The aim of this study was to determine potential associations between clinical and biochemical features and mutation in susceptibility genes for PHPT in patients with a family history of PHPT...
February 2, 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29394551/-laparoscopic-total-gastrectomy-ltg-in-patient-with-multiple-gastric-neuroendocrine-tumor-related-to-multiple-endocrine-neoplasia-type-1-two-case-reports
#7
Yoshihiro Mori, Tatsuya Yamada, Kazuhisa Ehara, Shu Arai, Yumiko Kageyama, Yoshiyuki Kawashima, Satoshi Nomura, Yukinori Kamio, Daiji Oka, Takashi Fukuda, Hirohiko Sakamoto, Hanako Oba, Masafumi Kurosumi, Kiwamu Akagi
We herein report 2 cases of laparoscopic total gastrectomy(LTG)in patient with multiple gastric neuroendocrine tumor (NET)related to multiple endocrine neoplasia type 1(MEN1). Case 1: A 66-year-old female was diagnosed with multiple gastric NET. There was no finding of any other tumor, and parathyroid function was normal. She underwent LTG. Case 2: A 58-year-old female was diagnosed with multiple gastric NET. The patient had a previous history of surgery for pituitary gland tumor. There was no finding of any other tumor, and parathyroid function was normal...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29383428/from-initial-description-by-wermer-to-present-day-men1-what-have-we-learned
#8
Nancy D Perrier
INTRODUCTION: Pancreas, parathyroid, and pituitary, are referred to as the "3 Ps" of MEN1. The time has come to move beyond those Ps and begin to discuss (1) prediction, (2) pausing progression, and (3) prevention of MEN1. METHODS: In preparation for the International Association of Endocrine Surgeons State of the Art address, updates and uncertainties of MEN were reviewed. This included a detailed examination of the MEN1 gene and the library of implicated mutations, exon sequencing databases and cell cycle pathways...
January 30, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29335487/increased-expression-of-glp-1r-in-proliferating-islets-of-men1-mice-is-detectable-by-68ga-ga-do3a-vs-cys40-exendin-4-pet
#9
Azita Monazzam, Joey Lau, Irina Velikyan, Su-Chen Li, Masoud Razmara, Ulrika Rosenström, Olof Eriksson, Britt Skogseid
Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by heterozygous mutations in the MEN1 tumor suppressor gene. The MEN1 pancreas of the adolescent gene carrier frequently contain diffusely spread pre-neoplasias and microadenomas, progressing to macroscopic and potentially malignant pancreatic neuroendocrine tumors (P-NET), which represents the major death cause in MEN1. The unveiling of the molecular mechanism of P-NET which is not currently understood fully to allow the optimization of diagnostics and treatment...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321190/genomic-landscape-of-pancreatic-neuroendocrine-tumours-the-international-cancer-genome-consortium
#10
Andrea Mafficini, Aldo Scarpa
Neuroendocrine tumours (NETs) may arise throughout the body and are a highly heterogeneous, relatively rare class of neoplasms difficult to study also for the lack of disease models. Despite this, knowledge on their molecular alterations has expanded in the latest years, also building from genetic syndromes causing their onset. Pancreatic NETs (PanNETs) have been among the most studied, and research so far has outlined a series of recurring features, as inactivation of MEN1, VHL, TSC1/2 genes, and hyperactivation of the PI3K/mTOR pathway...
January 10, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29259370/pancreatic-acinar-cell-carcinoma-a-review-on-molecular-profiling-of-patient-tumors
#11
REVIEW
Ahmad Al-Hader, Rami N Al-Rohil, Haiyong Han, Daniel Von Hoff
Pancreatic carcinomas with acinar differentiation are rare, accounting for 1%-2% of adult pancreatic tumors; they include pancreatic acinar cell carcinoma (PACC), pancreatoblastoma, and carcinomas of mixed differentiation. Patients with PACC have a prognosis better than pancreatic ductal adenocarcinomas but worse than pancreatic neuroendocrine tumors. Reports of overall survival range from 18 to 47 mo. A literature review on PACCs included comprehensive genomic profiling and whole exome sequencing on a series of more than 70 patients as well as other diagnostic studies including immunohistochemistry...
December 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29250314/a-case-of-long-survival-insulinoma-with-multiple-neuroendocline-tumour-type-1-controlled-by-multimodal-therapy
#12
Masahiro Shiihara, Wataru Izumo, Ryota Higuchi, Takehisa Yazawa, Shuichiro Uemura, Toru Furukawa, Masakazu Yamamoto
Insulinomas with multiple neuroendocrine tumour type 1 (MEN1) sometimes have metachronous or recurrent tumours. However, the treatment for these tumours is controversial, and published reports regarding multimodal therapy for insulinomas are limited. We report a 73-year-old woman with recurrent insulinoma with MEN1 successfully controlled by multimodal therapy. She had several complications, and poor performance status. Her hypoglycaemia did not improve after 6-month octreotide LAR; as such, she underwent enucleation of the pancreatic tumour...
December 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29239255/nonfunctional-pancreatic-endocrine-tumor-in-the-peripancreatic-region-in-a-chinese-patient-with-multiple-endocrine-neoplasia-type-1
#13
Bao-Ping Wang, Wei-Jun Tian, Jie Zhang, Chang-Xin Jiang, Hui-Qi Qu, Mei Zhu
Nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) in patients with multiple endocrine neoplasia type 1 (MEN1), which results from a mutation in the MEN1 gene, are commonly small, multiple tumors located in the pancreatic head and inside the pancreatic parenchyma. We herein describe a 35-year-old woman with bone pain and a 7-year history of a prolactinoma. She was clinically diagnosed with MEN1 based on the presence of the prolactinoma and parathyroid hyperplasia. Abdominal computed tomography revealed a 5-cm mass close to the splenic hilum...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29239031/molecular-alterations-of-neuroendocrine-tumours-of-the-lung
#14
REVIEW
Giulio Rossi, Luca Bertero, Caterina Marchiò, Mauro Papotti
Neuroendocrine tumours of the lung comprise low [typical carcinoid (TC)], intermediate [atypical carcinoid (AC)] and high-grade [small-cell lung cancer (SCLC) and large-cell neuroendocrine carcinoma (LCNEC)] malignancies, while a pre-invasive lesion [diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)] may generate a subset of peripheral carcinoid tumours. These neoplasms are differentiated conventionally based on mitotic rate, presence of necrosis and cytological details, according to the 2015 World Health Organisation (WHO) classification...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29225978/coexistence-of-gh-producing-pituitary-macroadenoma-and-meningioma-in-a-patient-with-multiple-endocrine-neoplasia-type-1-with-hyperglycemia-and-ketosis-as-first-clinical-sign
#15
A Herrero-Ruiz, H S Villanueva-Alvarado, J J Corrales-Hernández, C Higueruela-Mínguez, J Feito-Pérez, J M Recio-Cordova
We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29225207/parathyroid-carcinoma-occurred-in-two-glands-in-multiple-endocrine-neoplasia-1-a-report-on-a-rare-case
#16
Yoko Omi, Kiyomi Horiuchi, Kento Haniu, Momoko Tokura, Erin Nagai, Osamu Isozaki, Yoji Nagashima, Takahiro Okamoto
Primary hyperparathyroidism is the most common hormonal manifestation associated with multiple endocrine neoplasia 1 (MEN1). It is generally caused by parathyroid hyperplasia, and parathyroid carcinoma is rare. Here, we report a case of MEN1 with parathyroid carcinoma in two parathyroid glands causing primary hyperparathyroidism. A 40-year-old man with primary hyperparathyroidism due to MEN1 underwent a total parathyroidectomy. His corrected calcium and intact PTH (i-PTH) serum levels were 10.8 mg/dL and 203 pg/mL, respectively...
December 8, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29212165/assessment-of-pancreatic-neuroendocrine-tumor-cytologic-genotype-diversity-to-guide-personalized-medicine-using-a-custom-gastroenteropancreatic-next-generation-sequencing-panel
#17
Ferga C Gleeson, Jesse S Voss, Benjamin R Kipp, Sarah E Kerr, John S Van Arnam, John R Mills, Cherisse A Marcou, Amber R Schneider, Zheng Jin Tu, Michael R Henry, Michael J Levy
Background: Recent genetic studies have highlighted that alterations in MEN1, chromatin remodeling genes, and mammalian target of rapamycin (mTOR) pathway genes are the most frequent molecular events identified in pancreas neuroendocrine tumors (pNETs). The prognostic or predictive impact of these biomarkers and other less frequently observed aberrations, i.e. PTEN, TSC2 and PIK3CA are relatively unknown. The aims of this targeted next generation sequencing (NGS) study were to assess tumor cytology genotype diversity, to survey for potential adverse prognostic biomarkers and the prevalence of mTOR pathway variants...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29188494/menin-modulates-mammary-epithelial-cell-numbers-in-bovine-mammary-glands-through-cyclin-d1
#18
Kerong Shi, Xue Liu, Honghui Li, Xueyan Lin, Zhengui Yan, Qiaoqiao Cao, Meng Zhao, Zhongjin Xu, Zhonghua Wang
Menin, the protein encoded by the MEN1 gene, is abundantly expressed in the epithelial cells of mammary glands. Here, we found MEN1/menin expression slowly decreased with advancing lactation but increased by the end of lactation. It happened that the number of bovine mammary epithelial cells decreases since lactation, suggesting a role of menin in the control of mammary epithelial cell growth. Indeed, reduction of menin expression through MEN1-specific siRNA transfection in the bovine mammary epithelial cells caused cell growth arrest in G1/S phase...
November 29, 2017: Journal of Mammary Gland Biology and Neoplasia
https://www.readbyqxmd.com/read/29181825/a-primary-hepatic-gastrinoma-accompanied-by-hyperplasia-of-multi-nodular-brunner-s-glands
#19
Takaomi Hagi, Yohei Hosoda, Izumi Komoto, Shinji Uemoto, Susumu Hijioka, Yoshiro Taki, Kazuhiro Nishiyama, Masayuki Imamura
BACKGROUND: Primary hepatic gastrinoma causing severe ulcerogenic syndrome is extremely rare. Herein, we report a case of primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands in a patient who instead, preoperatively, was suspected of having multiple duodenal gastrinomas and hepatic metastasis. CASE PRESENTATION: A 57-year-old woman consulted a clinic complaining of melena, intermittent abdominal pain, diarrhea, and vomiting which had persisted for about 3 years...
November 28, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/29174091/pancreatic-hemi-agenesis-in-men1-a-clinical-report
#20
Wouter J Vinck, Frank Van de Mierop, François Van Mieghem, Maarten Vinck, Herman Becq, Geneviève Michils
We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype...
November 22, 2017: European Journal of Medical Genetics
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