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Multiple Endocrine Neoplasia Type 1

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1. Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma ISSN 2472-1972 Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma Friedhelm Raue 1 and Karin Frank-Raue 1 1 Endocrine Practice Heidelberg, Molecular Genetic Laboratory, 69120 Heidelberg, Germany Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome causedbymissensegain-of-functionmutationsintheRETproto-oncogeneonchromosome10.Specific RET (...) , No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc- nd/4.0/). Freeform/Key Words: calcitonin, medullary thyroid carcinoma, multiple endocrine neoplasia type 2, RET mutation Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndromecausedbymissensegain-of-functionmutationsintheRETproto-oncogene.MEN2 is highly penetrant in medullary thyroid carcinoma (MTC), and it can be associated with bilateral pheochromocytoma and primary hyperparathyroidism

2018 Pediatric Endocrine Society

2. AIM Clinical Appropriateness Guidelines for Molecular Testing of Solid and Hematologic Tumors and Malignancies

Criteria Somatic tumor testing, unless separate criteria is stated below, is medically necessary when all of the following criteria are met: • Identification of the specific genetic variant or gene expression profile has been demonstrated to improve diagnosis, management, or clinical outcomes for the individual’s tumor type • Individual meets specific testing criteria outlined in National Comprehensive Cancer Network ® (NCCN ® ) algorithms with a category 1 or 2A level of evidence or supplemental (...) as outlined in the criteria in the NCCN ® Clinical Practice Guidelines in Oncology (NCCN Guidelines ® ), Prostate Cancer Early Detection. Confirmed Malignancy Gene expression or molecular profiling assays for confirmed prostate tumors are not medically necessary. Thyroid Cancer Confirmed or Highly-Suspected Thyroid Cancer BRAF V600E mutation analysis is medically necessary in cases with confirmed or highly-suspected follicular thyroid carcinoma, papillary thyroid carcinoma, medullary thyroid carcinoma

2019 AIM Specialty Health

3. Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. (Abstract)

Preoperative Imaging Overestimates the Tumor Size in Pancreatic Neuroendocrine Neoplasms Associated with Multiple Endocrine Neoplasia Type 1. Radiological tumor size of non-functioning pancreatic neuroendocrine neoplasms (Nf-pNENs) associated with multiple endocrine neoplasia type 1 (MEN1) is a crucial parameter to indicate surgery. The aim of this study was to compare radiological size (RS) and pathologic size (PS) of MEN1 associated with pNENs.Prospectively collected data of MEN1 patients who (...) underwent pancreatic resections for pNENs were retrospectively analyzed. RS was defined as the largest tumor diameter measured on endoscopic ultrasound (EUS), magnetic resonance imaging (MRI) or computed tomography (CT). PS was defined as the largest tumor diameter on pathological analysis. Student's t test and linear regression analysis were used to compare the median RS and PS. p < 0.05 was considered significant.Forty-four patients with a median age of 37 (range 10-68) years underwent primary

2017 World Journal of Surgery

4. Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1). (Abstract)

Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1). Long-acting synthetic somatostatin analogues (SSA) are an essential part of the treatment of neuroendocrine neoplasms. We evaluated the chemopreventive effects of a long-acting somatostatin analogue on the development of pancreatic neuroendocrine neoplasms (pNENs) in a genetically engineered MEN1 knockout mouse model.Heterozygote MEN1 (...) knockout mice were injected every 28 days subcutaneously with the somatostatin analogue lanreotide (Somatuline Autogel©; Ipsen Pharma) or a placebo starting at day 35 after birth. Mice were euthanized after 6, 9, 12, 15 and 18 months, and the size and number of pNENs were measured due histological analysis and compared to the placebo group.The median tumor size of pNENs was statistically significantly smaller after 9 (control group vs. SSA group; 706.476 µm2 vs. 195.271 µm2; p = 0.0012), 12 (placebo

2019 World Journal of Surgery

6. Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma Full Text available with Trip Pro

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations in the RET proto-oncogene on chromosome 10. Specific RET mutations can predispose toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. MEN2 is highly penetrant in medullary thyroid carcinoma (MTC), and it can be associated (...) tumors; in contrast, with genetic screening, MTC can be diagnosed at preclinical disease states. This approach has resulted in a high cure rate and a much better prognosis for MTC. However, classification into one of the three RET mutation risk groups for predicting aggressiveness and prognosis has had limited impact. Increasing evidence has shown that patients with RET mutations in different risk classifications exhibit a broad spectrum of MTC aggressiveness during follow-up, with no relevant

2018 Journal of the Endocrine Society

7. Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne). (Abstract)

Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne). To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional status and size.DP-NETs, with their numerous lesions and endocrine secretion-related symptoms, continue to be a medical (...) challenge; unfortunately they can become aggressive tumors associated with distant metastasis, shortening survival. The survival of patients with large nonfunctional DP-NETs is known to be poor, but the overall contribution of DP-NETs to metastatic spread is poorly known.The study population included patients with DP-NETs diagnosed after 1990 and followed in the MEN1 cohort of the Groupe d'étude des Tumeurs Endocrines (GTE). A multistate Markov piecewise constant intensities model was applied

2018 Annals of Surgery

10. Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 Full Text available with Trip Pro

Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1 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. This soft tissue tumor, which was located outside the pancreatic parenchyma and the tissue origin of which could not be identified preoperatively, was found to be connected to the pancreatic tail. After resection, histological examination revealed a well-differentiated neuroendocrine tumor of pancreatic origin

2017 The Journal of international medical research

11. Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient Full Text available with Trip Pro

Multiple Neuroendocrine Tumors in Stomach and Duodenum in a Multiple Endocrine Neoplasia Type 1 Patient A 67-year-old woman with a history of subtotal parathyroidectomy, distal pancreatectomy, and total splenectomy 23 years prior underwent surgical gastric resection for neuroendocrine tumors of the stomach and duodenum. Meticulous examination of the entire stomach and duodenum revealed multiple scattered, minute neuroendocrine tumors. To the best of our knowledge, this is the first case report (...) of a patient diagnosed with gastroduodenal neuroendocrine tumors associated with multiple endocrine neoplasia type 1 (MEN 1) in whom complete histologic mapping of the whole gastrectomy specimen was performed. The presence of MEN 1-associated neuroendocrine tumors in the stomach is very rare, but should be considered in patients diagnosed with MEN 1 who present with a new tumor in the stomach.

2017 Journal of Pathology and Translational Medicine

12. Visualization of Macroprolactinoma by 18F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1 Full Text available with Trip Pro

Visualization of Macroprolactinoma by 18F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1 30302421 2018 11 14 2472-1972 2 10 2018 Oct 01 Journal of the Endocrine Society J Endocr Soc Visualization of Macroprolactinoma by 18 F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1. 1170-1172 10.1210/js.2018-00193 Paepegaey Anne-Cécile AC 0000-0003-4250-5771 Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris (...) Descartes University, Paris, France. Gaujoux Sébastien S Department of Endocrine Surgery, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France. Cottereau Anne-Ségolène AS Department of Nuclear Medicine, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France. Groussin Lionel L 0000-0003-1476-475X Department of Endocrinology, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris

2018 Journal of the Endocrine Society

13. Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing. Full Text available with Trip Pro

Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing. Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations (...) in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated with the different types of tumors.We performed whole-exome sequencing (WES) on three parathyroid tumors, one pancreatic insulinoma, and a blood sample taken from the same patient with MEN1 to study tumor heterogeneity in MEN1 originating from different tumors. We identified a novel frame-shift deletion (c.1382_1383delAG, p.E461GfsX69) in the MEN1 gene using WES, which was confirmed

2017 BMC Medical Genetics

14. Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. (Abstract)

Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. Thymic neuroendocrine tumour (TH-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Identifying risk factors for the development of these rare tumours and prognostic factors for clinical outcomes will be helpful in clinical practice.We performed a retrospective analysis (...) ), sex ratio was 79:20 (male vs female), and the median age at diagnosis was 43.0 years (range, 16.0-72.0 years). Forty-three patients died with a median survival time of 8.4 years. Older age at diagnosis (HR = 1.4, 95% CI = 1.0-1.8, P = .03), maximum tumour diameter (HR = 1.5, 95% CI = 1.0-2.3, P = .04) and presence of metastasis (HR = 1.6, 95% CI = 1.0-2.5, P = .04) were associated with worse outcome. A male predominance (91.9% vs 59.5%, P < .001) and history of smoking (59.0% vs 23.5%, P = .015

2017 Clinical endocrinology

15. Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1 Full Text available with Trip Pro

Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome (...) sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma. We found that this patient possessed a novel germline mutation of the MEN1 gene [NM_137099.2:c.1505dupA (p.Lys502Lysfs); the localization was Chr11:64572134 on Assembly GRCh37], in which an adenine insertion in codon 502 of the MEN1 gene resulted in a frame shift and a premature stop codon. In terms of heterozygosity, the mutated

2017 Human Genome Variation

16. Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 Full Text available with Trip Pro

Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 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. Here, we report a rare case of a MEN1 patient who exhibited adrenocortical carcinoma (ACC) and lung adenocarcinoma (LAC). A 53-year-old Japanese woman was diagnosed with genetically proven MEN1 that initially manifested as parathyroid, pancreatic, and adrenal tumors. During

2016 Respiratory Medicine Case Reports

17. Multiple endocrine neoplasia syndromes

Multiple endocrine neoplasia syndromes Multiple endocrine neoplasia syndromes - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Multiple endocrine neoplasia syndromes Last reviewed: February 2019 Last updated: February 2018 Summary Hereditary tumour syndromes with distinct patterns of organ involvement. Mutations in the MEN1 gene typically cause type 1 multiple endocrine neoplasia (MEN1), and mutations in the RET proto (...) -oncogene typically cause type 2 multiple endocrine neoplasia (MEN2). Prophylactic thyroidectomy in childhood is indicated in MEN2. Medical management of hormonal hypersecretion is important for symptom control. Most tumours require surgical evaluation, although surgical cure is not always possible. Genetic carriers require lifelong monitoring, even after successful operations. Morbidity and mortality result from both hormonal hypersecretion and metastases. Definition Multiple endocrine neoplasia (MEN

2018 BMJ Best Practice

18. European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas Full Text available with Trip Pro

AIP mutations among apparently sporadic populations ( ). Other genes implicated in pituitary tumour predisposition include GPR101 (XLAG), p27Kip1 (multiple endocrine neoplasia type 4 (MEN4)), PRKAR1A (Carney complex), GNAS (McCune–Albright syndrome), neurofibromatosis type 1, SDHx mutations and DICER1 syndrome ( ). However, currently little is known about the potential for more aggressive pituitary tumour behaviour under these conditions. 3. Therapeutic options 3.1 Role of surgery R 3.1.1 We (...) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas in: European Journal of Endocrinology Volume 178 Issue 1 Year 2018 This site uses cookies, tags, and tracking settings to store information that help give you the very best browsing experience. If you don't change your settings, we'll assume

2018 European Society of Endocrinology

19. A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor Full Text available with Trip Pro

A new association – multiple endocrine neoplasia type 1 and malignant peripheral nerve sheath tumor We report a patient with multiple endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported. We report a patient with multiple (...) endocrine neoplasia type 1 (MEN-1) and an aggressive malignant peripheral nerve sheath tumor (MPNST) arising from a ganglioneuroma of the adrenal gland. Patients with MEN-1 require careful consideration of other tumor associations, including MPNST, as it can portend a poor prognosis. MEN-1 and MPNST have not been reported.

2014 Clinical Case Reports

20. Incidence of adrenal gland tumor as a second primary malignancy: SEER-based study Full Text available with Trip Pro

Incidence of adrenal gland tumor as a second primary malignancy: SEER-based study Advances in cancer treatment achieved during the past decades have resulted in increased survival of most pediatric and adult patients that suffered from different adrenal tumor types. This article reviews the incidence and survival of adrenal gland tumors as second primary tumors, according to data from the Surveillance, Epidemiology, and End Results (SEER) database.The SEER 13 Registries Database from 1992 (...) to 2013 was used. All primary cancer sites were selected using the Multiple Primary Standardized Incidence Ratios (MP-SIR) session.Data for a total of 2,887,468 persons with cancer were reviewed. 117 of whom had suffered second primary adrenal tumors. The overall standardized incidence ratio (SIR) of adrenal gland tumor as a second primary was 1.49. A high incidence ratio of the event was also detected in specific primary tumor sites: hypopharynx (Observed/Expected(O/E) = 44.59); other endocrine

2018 Endocrine connections

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