3,009 results match your criteria: "Wermer Syndrome MEN Type 1"

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by mutations in the tumor suppressor gene  and is characterized by parathyroid, pancreatic islet, and anterior pituitary tumors. Primary hyperparathyroidism is the most characteristic finding in MEN1, and intraoperative identification and accurate removal of the diseased parathyroid glands are vital since incomplete excision results in recurrence. This case report describes a 59-year-old woman who had pancreatic islet cell tumors and pituitary tumors and underwent selective transsphenoidal adenomectomy.

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FOXG1 syndrome is a developmental encephalopathy caused by FOXG1 (Forkhead box G1) mutations, resulting in high phenotypic variability. However, the upstream transcriptional regulation of Foxg1 expression remains unclear. This report demonstrates that both deficiency and overexpression of Men1 (protein: menin, a pathogenic gene of MEN1 syndrome known as multiple endocrine neoplasia type 1) lead to autism-like behaviors, such as social defects, increased repetitive behaviors, and cognitive impairments.

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Introduction: The purpose of the study was to determine the usefulness of Ga-68 DOTATATE PET/MR in the identification of tumours in individuals with multiple endocrine neoplasia type 1 (MEN1).

Methods: In this retrospective investigation, five individuals who had tested positive for a hereditary MEN1 variant underwent Ga-68 DOTATATE PET/MR between May 2020 and January 2023. Several types of tumours associated with MEN1 were studied.

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Genetic disorders and insulinoma/glucagonoma.

Endocr Relat Cancer

May 2024

Fondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.

Article Synopsis
  • * Most cases occur sporadically, but about 10% are linked to inherited conditions like multiple endocrine neoplasia type 1 (MEN1), neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC), resulting from mutations in tumor-suppressor genes.
  • * The text reviews the main epidemiological and clinical features of these tumors, particularly in relation to genetic syndromes.
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Background: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection.

Aim: To study surgically treated pediatric PHPT retrospectively.

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Article Synopsis
  • MEN1 is a rare genetic syndrome caused by mutations in the menin 1 gene, leading to tumors in multiple endocrine glands, particularly affecting parathyroid, pancreatic, and pituitary glands.
  • Primary hyperparathyroidism is the most common manifestation, followed by pancreatic neuroendocrine tumors, and recent studies have identified ependymoma as another potential neoplasm associated with MEN1.
  • The text introduces a new tumor subtype linked to MEN1 called Pleomorphic Xanthoastocytoma grade 3 differential pathology (PDP), suggesting that it may arise from specific genetic variants related to the MEN1 gene and associated factors.
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Introduction: Insulinomas are the most frequent functional pancreatic neuroendocrine tumors. In about 10% of cases, insulinomas are associated with hereditary syndromes, including multiple endocrine neoplasia 1 (MEN1).

Case Presentation: Herein, we present a 44-year-old female with recurrent hypoglycemia.

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Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder defined by the presence of two of the following endocrinopathies: primary hyperparathyroidism, anterior pituitary tumors, and duodenopancreatic neuroendocrine tumors (NETs). NETs, which can secrete hormones including insulin, gastrin, and glucagon, among others, are common in patients with MEN1 and are a major cause of morbidity and premature death. NETs are more common later in life, with very few cases described in children.

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Background: Multiple endocrine neoplasia type 1 (MEN1) - is a rare syndrome with an autosomal dominant inheritance pattern caused by a mutation in the tumor suppressor gene (MEN1). Parathyroid involvement is the most common MEN1 manifestation resulting in primary hyperparathyroidism (mPHPT). Data on the prevalence and structure of bone disease in mPHPT compared to sporadic one (sPHPT) are often incomplete and contradictory.

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[Tumor predisposition in endocrinology - from MEN to FIPA].

Dtsch Med Wochenschr

March 2024

Medizinische Klinik 1, Bereich Endokrinologie und Diabetologie, Universitätsklinikum Schleswig Holstein, Campus Lübeck, Lübeck.

Understanding genetic predisposition has a significant impact on the management of patients with endocrine tumours, including therapy, early detection and prevention. These tumours, which develop as part of a familial predisposition, often manifest early in life and frequently affect several endocrine organs. In the following article, both common syndromes, such as multiple endocrine neoplasia (MEN) syndromes, and rare syndromes, such as familial isolated pituitary adenoma (FIPA), are presented based on their indicator diseases.

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PHPT with Pancreatitis: Atypical Presentation of PHPT.

Indian J Endocrinol Metab

January 2024

Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow, Uttar Pradesh, India.

Background: Primary hyperparathyroidism (PHPT) is rarely associated with the occurrence of acute or chronic pancreatitis, requiring complex perioperative management. This study aimed to assess the prevalence and disease characteristics of pancreatitis in PHPT.

Materials And Methods: This study is a clinicopathological analysis of the medical records of patients who were diagnosed with PHPT with pancreatitis between 1989 and 2021 in the Endocrine Surgery department, SGPGI, Lucknow.

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Multiple bronchial carcinoids associated with Cowden syndrome.

Endocrine

June 2024

Department of Medicine and Oncology, ENETS Center of Excellence, Faculty of Medicine, Semmelweis University, Budapest, Hungary.

Article Synopsis
  • Cowden syndrome (CS) is a rare genetic disorder linked to mutations in the PTEN tumor suppressor gene, increasing the risk of various tumors, including thyroid and breast cancers.
  • A case study highlights a 46-year-old man with a history of testicular seminoma and thyroid cancer who was diagnosed with CS through genetic testing that confirmed a PTEN mutation.
  • This patient also exhibited multiple pulmonary carcinoid tumors, marking him as the first reported case of CS linked to these specific tumors, suggesting CS may predispose individuals to multifocal pulmonary lesions.
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Microwave ablation for recurrent primary hyperparathyroidism in four patients with multiple endocrine neoplasia type 1: a case series report.

Int J Hyperthermia

February 2024

Endocrine and Diabetes Center, The Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, Nanjing, China.

Multiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome, is inherited in an autosomal dominant pattern, mainly manifested as primary hyperparathyroidism (PHPT). Surgery is preferred for patients with MEN1 and PHPT. Thermal ablation has been widely applied for PHPT but rarely for postoperative recurrent PHPT in MEN1 patients.

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Background: MEN-1 is a rare autosomal dominant disease caused by mutations in MEN1 gene encoding the menin protein. This syndrome is characterized by the occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine tumors, pituitary adenomas, as well as other endocrine and non-endocrine tumors. If a patient with the MEN-1 phenotype carry no mutations in the MEN1 gene, the condition considers a phenocopy of syndrome (phMEN1).

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Hyperinsulinemic hypoglycemia (HH) of pancreatic origin includes congenital hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia syndrome (NI-PHHS). In this review, we describe the genotype-histotype-phenotype correlations in HH and their therapeutic implications. CHI can occur from birth or later on in life.

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Article Synopsis
  • MEN1 is a genetic condition that can cause tumors in different glands, and scientists are trying to understand more about it by studying families affected by this disease.
  • A 35-year-old woman with MEN1 and her kids were tested for changes in the MEN1 gene, which can lead to serious health issues.
  • They discovered a new change in the MEN1 gene that might be linked to the woman's condition, suggesting that more careful genetic testing is important for people with MEN1.
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Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

J Clin Endocrinol Metab

June 2024

CHU Lille, Service de Biochimie et Biologie moléculaire « Hormonologie, Métabolisme-Nutrition, Oncologie, 59000 Lille, France.

Context: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear.

Objective: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients.

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Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by tumors in multiple organs. Although being a dominantly inherited monogenic disease, disease phenotypes are unpredictable and differ even among members of the same family. There is growing evidence for the role of modifier genes in the alteration of the course of this disease.

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Syndromic MEN1 parathyroid adenomas consist of both subclonal nodules and clonally independent tumors.

Virchows Arch

May 2024

Department of Visceral Surgery and Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Primary hyperparathyroidism with parathyroid tumors is a typical manifestation of Multiple Endocrine Neoplasia Type 1 (MEN1) and is historically termed "primary hyperplasia". Whether these tumors represent a multi-glandular clonal disease or hyperplasia has not been robustly proven so far. Loss of Menin protein expression is associated with inactivation of both alleles and a good surrogate for a MEN1 gene mutation.

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Background: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by endocrine tumors with mainly a parathyroid, pancreatic, or anterior pituitary origin. Low-grade fibromyxoid sarcoma (LGFMS) is a rare low-grade soft tissue tumor. There is one known report of a patient with MEN1 complicated by LGFMS, which is very rare.

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[Individualized approach for MEN1-associated duodenopancreatic neuroendocrine neoplasms].

Chirurgie (Heidelb)

March 2024

Klinik für Visceral‑, Thorax- und Gefäßchirurgie, Philipps Universität Marburg, 35043, Marburg, Deutschland.

Background: Multiple endocrine neoplasia type 1 (MEN1)-associated duodenopancreatic neuroendocrine neoplasms (dpNEN) represent the most frequent syndrome-associated cause of death, but the adequate treatment is sometimes considered controversial.

Objective: Presentation of possible diagnostic and therapeutic options for MEN1-associated dpNENs.

Material And Methods: In this review article retrospective case studies, expert recommendations, national and international guidelines as well as personal experiences were analyzed and evaluated.

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[Multiple neuroendocrine tumors of the pancreas].

Pathologie (Heidelb)

February 2024

ENETS CoE, Medizinische Klinik, Innere Medizin VIII, Medizinische Onkologie und Pneumologie, Universitätsklinikum Tübingen, Otfried-Müller-Straße 14, 72076, Tübingen, Deutschland.

Multiple neuroendocrine tumors (NET) of the pancreas often have a hereditary background. Sporadic and hereditary NET do not differ morphologically or with regard to their hormone expression. The most important clues for a hereditary background are provided by examination of the peritumoral pancreatic tissue, especially the morphology and hormone expression of the endocrine islets.

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Objective: Summarize and analyze the characteristics of patients with Multiple Endocrine Neoplasia type 1 (MEN-1) who were diagnosed with malignant tumors that do not belong to MEN-1 components.

Methods: Clinical data from patients with MEN-1 who visited Peking Union Medical College Hospital between April 2012 and April 2022 were collected. We compared the clinical characteristics of patients with malignant tumors outside of their MEN-1 components to those without additional tumors.

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