Materiały źródłowe

• #1 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  A person is diagnosed with MEN type 1 if they have at least two of the three endocrine tumors associated with the condition (parathyroid tumor, pituitary tumor and/or a tumor in the gastroenteropancreatic tract) or if they have one of the associated tumors and a family history of MEN type 1. […] Before a healthcare provider can diagnose MEN type 1, they need to diagnose one or more different types of tumors in the individual. A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of certain tumors. For example, higher-than-normal levels of parathyroid hormone (PTH) in addition to hypercalcemia (excess calcium in your blood) can indicate the presence of a parathyroid tumor. […] Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors.

• #1 Multiple Endocrine Neoplasia Type 1 – NIDDK

  https://www.niddk.nih.gov/health-information/endocrine-diseases/multiple-endocrine-neoplasia-type-1

  How do doctors diagnose MEN1? Your doctor will diagnose you as having MEN1 if you meet one of these three criteria: two or more MEN1-related tumors (tumors in parathyroid glands, pituitary gland, and pancreas, or other part of the digestive tract) […] Genetic testing will help you find out if you have a gene mutation known to cause MEN1. Testing is recommended for people who have two or more MEN1-related endocrine tumors or other signs or symptoms of MEN1 […] An early diagnosis will help you monitor your symptoms and address problems before they become serious. Genetic testing for a known familial mutation may be appropriate starting as early as age 5 because, in rare cases, children with MEN1 may develop tumors of the pituitary or parathyroid glands. The typical age of onset for MEN1 syndrome is in the teens or 20s, but the first tumors in someone with MEN1 may develop earlier or later. The symptoms and types of tumors can differ even among members of the same family.

• #1 Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/multiple-endocrine-neoplasia-type-1-clinical-manifestations-and-diagnosis

  Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant predisposition to tumors of the parathyroid glands (which occur in the large majority of patients by age 50 years), anterior pituitary, and enteropancreatic endocrine cells; hence, the mnemonic device of the „3 Ps” (table 1) [1]. […] The recognition of MEN1 is important as individuals who inherit a pathogenic variant in the MEN1 gene may be at risk of considerable morbidity and premature mortality due to MEN1-associated tumors. […] The clinical manifestations and diagnosis of MEN1 will be reviewed here. […] The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors (figure 1).

• #1 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  Providers can also confirm a MEN type 1 diagnosis through genetic testing of the MEN1 gene. […] A person is diagnosed with MEN type 2 if they have medullary thyroid cancer (MTC) and pheochromocytoma and/or parathyroid enlargement (hyperplasia) or tumor (adenoma). […] Before a healthcare provider can diagnose MEN type 2, they need to diagnose medullary thyroid cancer (MTC) and other types of tumors in the individual. […] A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of MTC and other tumors. For example: Higher-than-normal levels of calcitonin can indicate MTC. […] Higher-than-normal levels of parathyroid hormone (PTH) can indicate a parathyroid tumor (adenoma) or hyperplasia. […] Higher-than-normal levels of catecholamines (a group of hormones produced by your adrenal glands) may indicate pheochromocytoma. […] Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors associated with MEN type 2. […] Providers can also confirm a MEN type 2 diagnosis through genetic testing of the RET gene.

• #1 Multiple endocrine neoplasia, type 1 (MEN 1) | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/multiple-endocrine-neoplasia-type-1-men-1?content_id=CON-20309660

  To find out if you have multiple endocrine neoplasia, type 1 (MEN 1), your healthcare professional starts by doing a physical exam. You also answer questions about your health history and family history. You may have a blood test and imaging tests, including the following: […] Genetic testing may help find out whether someone has a genetic change that causes MEN 1. If so, that person’s children are at risk of having the same genetic change and getting MEN 1. Parents and siblings also are at risk of having the genetic change that causes MEN 1. […] If genetic testing doesn’t confirm MEN 1, but it’s likely that a person has it, more testing is needed. That person, as well as family members, still needs follow-up healthcare checkups with blood tests and imaging tests.

• #1 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/multiple-endocrine-neoplasia-type-1

  Preferred initial test to confirm diagnosis of MEN1. […] A pathogenic MEN1 variant is identified in 80-90% of individuals who meet clinical criteria for MEN1 syndrome and have a family history of related cancers. […] A negative result does not exclude a diagnosis of MEN1. […] Diagnostic errors can occur due to rare sequence variations. […] Interpretation of this test result may be impacted if this patient has had an allogeneic stem cell transplantation. […] A pathogenic variant detected in MEN1 confirms diagnosis and etiology of MEN1. […] No pathogenic variants detected in MEN1 reduces the likelihood, but does not exclude, a diagnosis of MEN1.

• #1 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Evaluation of Multiple Endocrine Neoplasia Type 1 (MEN1) involves a comprehensive laboratory and radiographic workup to help identify individual conditions. […] Evaluation of hyperparathyroidism involves the measurement of serum calcium and parathyroid hormone intact (PTH) levels. […] Evaluation of gastro-entero-pancreatic tumors involves measuring serum levels of gastrin, glucagon, insulin, proinsulin, C-peptide, chromogranin A, pancreatic polypeptide, and vasoactive intestinal peptide (VIP). […] Evaluation of pituitary gland tumors involves measurement of pituitary hormones, including prolactin (PRL), growth hormone (GH), insulin-like growth factor 1 (IGF-1), follicle-stimulating hormone (FSH), luteinizing hormone (LH), adrenocorticotropic hormone (ACTH), thyroid-stimulating hormone (TSH), thyroxine (T4), and cortisol levels.

• #1 Multiple Endocrine Neoplasias – MEN | Choose the Right Test

  https://arupconsult.com/content/multiple-endocrine-neoplasias

  ~20-55% of families with familial isolated hyperparathyroidism (FIHP) have germline MEN1 mutations. If the specific familial mutation has already been identified in a relative, testing can be performed on at-risk family members using familial mutation targeted sequencing. […] Initial biochemical testing can identify tumor presence. […] Periodic screening for Multiple Endocrine Neoplasia 1 (MEN1)-associated endocrine tumors beginning in early childhood and continuing for life. Consider annual testing for the following: Parathyroid tumor, Calcium (ionized), Electrolytes, Parathyroid hormone. […] Risk for malignant progression of MEN1-associated tumors depends on tumor type. Malignancy uncommon before early adulthood. […] RET mutation analysis confirms presence of mutation in patient with FMTC or pheochromocytoma. Presymptomatic testing of at-risk family members.

• #1 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  A gastrin-secreting gastroenteropancreatic neuroendocrine (GEP-NET) tumor of the pancreas or duodenum is diagnosed by elevated basal plasma gastrin levels, an exaggerated gastrin response to infused calcium, and a paradoxical rise in gastrin level after infusion of secretin. […] Acromegaly is diagnosed by elevated growth hormone levels that are not suppressed by glucose administration and by elevated levels of serum insulin-like growth factor 1 (somatomedin C). […] Ultrasonography or computed tomography (CT) can help localize tumors. […] When an index case is identified, 1st-degree relatives should be given the option of genetic screening. […] Although early presymptomatic screening of family members of patients with MEN 1 has not been shown to reduce morbidity or mortality, a large cohort study reported a significant lag time between diagnosis of the index case and diagnosis in the rest of the family. […] Screening for breast cancer is recommended beginning at age 40 in women with MEN 1.

• #1 Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/126438-overview

  Pancreatic islet cell tumors represent the second most common manifestation of MEN1, occurring in 30-80% of patients. […] Gastrinomas, seen in the image below, are the most common functional pancreatic neuroendocrine tumors and occur in 40-55% of patients. […] Insulinomas are the second most common functioning pancreatic neuroendocrine tumor in MEN1, developing at young age ( 35 years) in approximately 10-30% of patients. […] MEN1-associated anterior pituitary tumors most commonly secrete prolactin (60%), followed by tumors that secrete growth hormone (25%). […] The rationale for an aggressive surveillance approach in MEN1 patients and asymptomatic carriers is based on the presumption that the early pre-symptomatic detection of MEN1 neoplasias may reduce the associated mortality. […] The peak incidence of symptoms in MEN1 is during the third decade of life in women and during the fourth decade of life in men.

• #1 Multiple endocrine neoplasia type 1 | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-1/

  2. Pituitary tumours surveillance of the pituitary is undertaken by checking blood tests (typically for prolactin and insulin-like growth factor-I levels). Routine magnetic resonance imaging (MRI) scans of the pituitary are performed every 3-5 years. If a patient reports any symptoms suggestive of a pituitary tumour then other pituitary hormone investigations can be performed as necessary; for example, specialist tests to investigate for Cushings disease. […] 3. Pancreatic NETs fasting blood tests are performed in hospital to measure the levels of hormones secreted by the tumours (fasting gut hormones and chromogranin A and B). Patients also undergo regular imaging to look for non-functioning tumours with a variety of techniques including MRI and CT scans, endoscopic ultrasound or nuclear medicine scans (octreotide or Gallium68-PET scan).

• #1 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  Multiple endocrine neoplasia, type 1 (MEN 1) is an autosomal dominant syndrome characterized by hyperplasia or adenomas of the parathyroid glands, pancreatic islet cell tumors (also known as pancreatic neuroendocrine tumors), and/or pituitary gland tumors. […] Diagnosis is by hormonal and imaging tests. […] MEN 1 syndrome should be considered in patients with tumors of the parathyroids, pancreas, or pituitary, particularly those with a family history of endocrinopathy. […] At-risk individuals should undergo genetic testing with direct DNA sequencing of a panel of genes that may cause MEN 1 or related syndromes, including MEN 4 and other forms of familial hyperparathyroidism. […] Additional laboratory or radiologic tests should be done if these screening tests suggest an endocrine abnormality related to MEN 1.

• #1 Multiple Endocrine Neoplasia Type 1 (MEN1) | Doctor

  https://patient.info/doctor/multiple-endocrine-neoplasia-type-1-men1

  DNA testing is available and mutation analysis may be used to confirm the clinical diagnosis, provide a genetic diagnosis and screen asymptomatic family members. […] Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in a family is known. […] […] […] The screening of first- and second-degree relatives of patients with MEN1 is aimed at early detection of parathyroid, pancreatic or pituitary lesions in gene carriers, to reduce the associated morbidity. […] Screening of patients with apparently sporadic pancreatic endocrine tumours for evidence of MEN1 is probably justified, especially in those with gastrinomas or insulinomas. […] Routine germline MEN1 mutation testing of all cases of 'classical’ MEN1, familial hyperparathyroidism and sporadic hyperparathyroidism with one other MEN1-related condition is justified by national testing services and testing should be considered for patients under 30 years old with sporadic hyperparathyroidism and multigland hyperplasia. […] Genetic linkage analysis has greater than 95% predictive accuracy and in most families a haplotype associated with the mutant allele can be found. If three markers can be identified, the accuracy improves to greater than 99%.

• #1 Multiple endocrine neoplasia 1 (MEN1) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/pre-cancerous-and-genetic-conditions/multiple-endocrine-neoplasia-1-men1

  Diagnosing MEN1 […] If doctors think you might have MEN1, they will arrange tests and scans. […] It is likely that you have MEN1 if: you have 2 or more endocrine tumours commonly linked to MEN1; you have 1 endocrine tumour commonly linked to MEN1, and a member of your family has MEN1; a genetic test shows you have a MEN1 gene variant. […] If your doctor thinks you may have MEN1, you may be offered genetic testing. This involves having a blood test. Your blood is checked to see whether you have a MEN1 gene variant. […] Sometimes genetic testing does not find a variant. But you may still be affected by MEN1. This could be because you have a variant in a gene that doctors do not know about yet. In this case, you and your family may still be offered screening tests to find any possible problems as early as possible.

• #1 Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN 1): a single-center experience | ECE2019 | 21st European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0063/ea0063p874

  Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN 1): a single-center experience […] Multiple endocrine neoplasia type 1 (MEN1) (OMIM 131100) is an autosomal dominant disorder associated with a high risk of developing parathyroid hyperplasia (90%), digestive neuroendocrine tumors (30-70%) and pituitary adenomas (30-40%). […] In patients with suspected MEN1, the gene should be studied by sequencing it and If no mutations are detected the laboratory should look for large deletions through Multiplex ligation-dependent probe amplification (MLPA) (13% cases). […] It is important to evaluate other genes like CDKN1B or AIP especially when we do not find any mutation in the MEN1 gene. An interesting option could be to use genetic testing with comprehensive gene panels because this will allow us to detect more genes alterations and different pathologies.

• #1 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Genetic evaluation in family members of patients with MEN1 was recently shown to result in the diagnosis of MEN 1, 10 years earlier than clinical or biochemical diagnosis. […] Screening for MEN1 mutations in the appropriate setting has several benefits including confirmation of the clinical diagnosis of MEN1, identification of family members that are carriers of MEN1 mutations, so that appropriate screening and/or treatment can be implemented, and identification of the 50% of family members that do not harbor a pathogenic mutation in MEN1 and thus do not require screening. […] According to the most recent clinical practice guidelines published in 2012 by Thakker et al. MEN1 mutational analysis should be performed in index cases with two or more MEN1-associated endocrine tumors (parathyroid, pancreatic, or pituitary tumors), asymptomatic first-degree relatives of a known MEN1 mutation carrier, first-degree relatives of a MEN1 mutation carrier expressing familial MEN1 (in order to exclude phenocopies), and in patients with suspicious or atypical MEN1. […] When possible, this testing should be undertaken in the first decade of life, and as early as before the age of 5, with the goal of detecting and preventing significant morbidity and even mortality.

• #1 Multiple endocrine neoplasia type 1 – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/multiple-endocrine-neoplasia-type-1/

  Multiple endocrine neoplasia type 1 (MEN1) is an inherited condition that leads to growth of mainly benign (non-cancerous) tumours of the endocrine glands. […] Individuals with a variant in the MEN1 gene should undergo regular surveillance to screen for MEN1-associated tumours and their hormonal effects. […] Early diagnosis, treatment and management improves outcome and quality of life for those affected. […] A clinical diagnosis of MEN1 can be made when: an individual develops two or more MEN1-associated tumours; or an individual with a family history of MEN1 develops one MEN1-associated tumour. […] Regular surveillance is needed to screen for MEN1-associated tumours and their hormonal effects. […] Screening may include a medical review for assessment of symptoms, biochemical screening to check the level of PTH /calcium and other hormones, and imaging of the pituitary/pancreatic gland. […] Genetic testing is available in the UK and usually provided through specialist clinics or regional genetic centres.

• #1 Orphanet: Multiple endocrine neoplasia type 1

  https://www.orpha.net/en/disease/detail/652

  A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients. […] MEN1 is clinically diagnosed in affected patients manifesting at least two of the main endocrine tumors (parathyroid, pituitary, and/or pancreatic) during their life. In these cases, the genetic testing is used and confirmed by the presence of a germinal mutation of the MEN1 gene. […] Prenatal diagnosis is possible, when one of the parent is carrier of a mutation of the MEN1. […] Annual life-long screening is recommended for all the carriers of a MEN1 mutations and individuals from affected families without an identified MEN1 mutations or who have not undergone the genetic test. Six-monthly screening is recommended for affected patients (CT, MRI, blood biochemistry).

• #1 Multiple Endocrine Neoplasia Type 1 (MEN1) Differential Diagnoses

  https://emedicine.medscape.com/article/126438-differential

  Hyperparathyroidism in multiple endocrine neoplasia type 1 (MEN1) must be separated from other familial forms of hypercalcemia, including familial parathyroid hyperplasia and familial adenomatous hyperparathyroidism. Familial hypocalciuric hypercalcemia may also have a similar presentation. […] Patients with MEN1-associated ZES are on average 10 years younger than those with sporadic ZES at the time of diagnosis. ZES should be considered in MEN1 patients with new digestive symptoms, including loose stools, especially when diarrhea promptly disappears when using proton pump inhibitor (PPI) therapy, epigastric pain and signs of GERD without severe esophagitis or tiny duodenal erosions on gastroscopy. […] Recommended screening schedules for patients with multiple endocrine neoplasia type 1 include blood tests and imaging studies at specific ages for conditions such as insulinoma, anterior pituitary tumors, parathyroid tumors, and other pancreatic neuroendocrine tumors.

• #1 A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

  https://atm.amegroups.org/article/view/70303/html

  It is necessary to carry out genetic testing for patients suspected of having MEN2. Mutations of RET are the basis for the genetic diagnosis of MEN2, and classification should be made according to the genotype-phenotype relationship. […] Patients with the clinical MEN1 phenotype who do not have MEN1 mutations in the genetic detection but have CDKN1B mutations can be diagnosed as MEN4. […] Patients clinically diagnosed as MEN, their blood-related family members, and patients suspected of MEN should undergo genetic testing. Genetic testing can be used for early diagnosis, identification of asymptomatic carriers, and preimplantation diagnosis.

• #1 Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors

  https://www.mdpi.com/2073-4425/14/9/1782

  The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET). […] A prompt and accurate diagnosis of MEN1 or MEN4 is critical for improving disease outcomes. This allows for early identification of clinical features, enabling timely treatment aimed at reducing morbidity and increasing survival. […] The typical manifestations of MEN1 are (a) parathyroid hyperplasia/adenomatosis (>95%), (b) duodenal-pancreatic NETs (about 80%), and (c) pituitary adenoma (about 30–50%). […] The main finding of the study confirms that pancreatic NETs and no other NET sites represent a starting point for a possible MEN1 or MEN4 syndrome. […] To summarize, patients with ≥3 phenotypic criteria should undergo MEN1 and CDKN1B molecular analysis.

• #1 Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors | Genetics in Medicine

  https://www.nature.com/articles/gim2009126

  The advantages of DNA analysis are that it requires a single blood sample and does not need to be repeated in theory, because the analysis is independent of the age of the individual and provides an objective result. […] Moreover, it has been reported that genetically diagnosed patients already harbored manifestations at the time of diagnosis confirming that screening for a MEN1 mutation should be done at an early age. […] An appropriate intervention in the form of clinical-biochemical testing, or treatment, or both, has been considered. […] Although currently a DNA test identifying an individual as a mutant gene carrier does not usually lead to immediate medical or surgical treatment, it suggests a precocious and frequent clinical screening, whereas a DNA result indicating that an individual is not at risk will suggest no further clinical investigations. […] However, because of the current inability to individually predict tumor penetrance and malignancy, lifelong follow-up of MEN1 carriers is strongly recommended to prevent tumor morbidity.

• #1 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 320/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. In this article, we review the diagnostic and therapeutic options for MEN1-associated tumors. […] The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. The early diagnosis and individualized treatment of MEN1-associated tumors can prevent the development of life-threatening hormonal syndromes and prolong the expected life span of MEN1 patients from 55 to 70 years, as well as improving their quality of life.

• #1 Multiple endocrine neoplasia type 1 in patients with gastroenteropancreatic neuroendocrine tumors: An opportunity for early diagnosis and appropriate management

  https://www.spandidos-publications.com/10.3892/mco.2020.2074

  Early diagnosis and the size of GEPNET are prognostic factors in patients with MEN1. […] In patients with sporadic GEPNET, a diagnostic delay of up to 96 months was recently reported, which may adversely affect the patient outcome. […] Furthermore, in patients with MEN1, the diagnostic delay was reported to be as long as 9.6 years for index cases and up to 3.5 years for family members. […] The median time from the onset of initial symptoms to the first tumor diagnosis was 42 months (range, 0-204 months) and the median time from the first tumor diagnosis to MEN1 diagnosis was 22 months (range, 1-109 months). […] The treatment approach and the outcomes of the patients with MEN1 are summarized in Table II. […] The long delay before a diagnosis of MEN1 is established has been previously reported in studies from countries including Brazil, Japan, The Netherlands, United States, Greece, and France/Belgium.

• #1 Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

  https://www.wjgnet.com/1007-9327/full/v30/i43/4677.htm

  Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin. […] Despite advancements in the field, early diagnosis of multiple endocrine neoplasia type 1 (MEN1) remains unachievable. […] This letter underscored the importance of considering MEN1 in patients presenting with recurrent gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin levels. […] The discussed case demonstrated how a comprehensive diagnostic approach, including imaging studies and blood tests, can lead to timely surgical intervention and accurate diagnosis. […] The process typically begins with a thorough clinical evaluation where a healthcare provider assesses symptoms and conducts physical examinations to identify signs of endocrine tumors.

• #1 Multiple endocrine neoplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/

  Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people. […] Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. […] Multiple endocrine neoplasia type 1 usually has an autosomal dominant pattern of inheritance. […] Two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. […] Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors. […] Genetic Testing Registry: Multiple endocrine neoplasia, type 1.

• #1 Multiple endocrine neoplasia type 1 — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/multiple-endocrine-neoplasia-type-1/

  Multiple endocrine neoplasia type 1 is a condition associated with variants in the MEN1 gene that causes predisposition to tumours in the endocrine organs. […] Multiple endocrine neoplasia type 1 (MEN1) is a condition that causes predisposition to tumours in the endocrine organs. It is associated with constitutional (germline) pathogenic variants in the MEN1 gene. […] MEN1 is caused by constitutional (germline) pathogenic loss-of-function variants in the MEN1 tumour suppressor gene, which codes for the menin protein. […] The majority of pathogenic MEN1 variants result in a truncated protein. To date, there is no clear genotype-phenotype correlation in MEN1. […] MEN1 is an autosomal dominant condition. It is almost fully penetrant by 40 years of age in at least one of the manifestations. A parent with a pathogenic variant has a 50% chance of passing the variant on to their child. […] Management and screening of individuals with MEN1 should follow published guidelines, with screening and surveillance starting in childhood. Endocrine neoplasia syndromes are multisystem conditions and care is best delivered by a multidisciplinary team.

• #1 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Using a predictive genetic test, affected individuals, having received genetic counseling, can now be diagnosed early and included in a regular screening program. […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] Given the complexity of the disease, specific diagnosis and treatment should be the responsibility of a multidisciplinary team (covering endocrinology, gastroenterology, surgery, radiology, nuclear medicine, and pathology). […] Currently, no mutation can be detected in 5-10% of cases presenting with the clinical picture of MEN1 syndrome. […] Genetic testing is an important component of the diagnostic work-up of affected patients and their families. In the first instance, it confirms the diagnosis of MEN1 syndrome in index patients.

• #1 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. […] The most recent clinical practice guidelines for MEN1, published in 2012, highlight the need for early genetic and clinical diagnosis of MEN1 and recommend an intensive surveillance approach for both patients with this syndrome and asymptomatic carriers starting at the age of 5 years with the goal of timely detection and management of MEN1-associated neoplasms and ultimately decreased disease-specific morbidity and mortality. […] The diagnosis of MEN1 can be made on the basis of clinical, familial, and/or genetic criteria.

• #2 A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

  https://atm.amegroups.org/article/view/70303/html

  Objective: We aimed to provide ideas for clinicians, especially radiologists, for the diagnosis of multiple endocrine neoplasia (MEN) syndromes. […] Considering that MEN syndromes involve multiple endocrine gland tumors and nonendocrine organ diseases, it is very important to identify potential patients early and perform multiple examinations on them, including biochemical and multitype, and multisite imaging examinations according to the disease spectrum of each type. […] Accurate and comprehensive diagnosis will enable patients to receive appropriate treatment and clinical management. […] Patients who meet any of the following 3 diagnostic criteria can be diagnosed with MEN1. (I) Clinical diagnosis: the patient has 2 or more of the 3 main tumors (parathyroid tumor, pituitary tumor, gastro-entero-pancreatic endocrine tumor). (II) Family diagnosis: the patient meets the clinical diagnostic criteria and has a first-degree relative (including parents, children, and siblings) who has 1 of the 3 main tumors. (III) Genetic diagnosis: genetic testing of the patient reveals a mutation in the MEN1 gene.

• #2 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  A person is diagnosed with MEN type 1 if they have at least two of the three endocrine tumors associated with the condition (parathyroid tumor, pituitary tumor and/or a tumor in the gastroenteropancreatic tract) or if they have one of the associated tumors and a family history of MEN type 1. […] Before a healthcare provider can diagnose MEN type 1, they need to diagnose one or more different types of tumors in the individual. A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of certain tumors. For example, higher-than-normal levels of parathyroid hormone (PTH) in addition to hypercalcemia (excess calcium in your blood) can indicate the presence of a parathyroid tumor. […] Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors.

• #2 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Multiple endocrine neoplasia type 1 (MEN1) is a rare endocrine tumor syndrome with high penetrance. This activity outlines the evaluation and management of MEN Type 1 and reviews the role of the interprofessional team in improving care for patients with this condition. […] MEN1 gene testing in an index case can confirm the diagnosis and allow early detection of asymptomatic mutation carriers years before a MEN1-associated tumor can be detected. However, approximately 20% of MEN1 kindred have no mutation in the MEN1 gene. […] Diagnosis of MEN1 is established if the index case has at least two of the primary manifestations of MEN1 Syndrome (tumor of parathyroid glands, anterior pituitary gland, and a neuroendocrine component of gastro-entero-pancreatic tissue) or at least one MEN1-related tumor and a first-degree relative with confirmed MEN1 (positive MEN1 gene mutation), or finally, the index case has the pathologic mutation in the MEN1 gene.

• #2 Multiple endocrine neoplasia type 1 – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/multiple-endocrine-neoplasia-type-1/

  Multiple endocrine neoplasia type 1 (MEN1) is an inherited condition that leads to growth of mainly benign (non-cancerous) tumours of the endocrine glands. […] Individuals with a variant in the MEN1 gene should undergo regular surveillance to screen for MEN1-associated tumours and their hormonal effects. […] Early diagnosis, treatment and management improves outcome and quality of life for those affected. […] A clinical diagnosis of MEN1 can be made when: an individual develops two or more MEN1-associated tumours; or an individual with a family history of MEN1 develops one MEN1-associated tumour. […] Regular surveillance is needed to screen for MEN1-associated tumours and their hormonal effects. […] Screening may include a medical review for assessment of symptoms, biochemical screening to check the level of PTH /calcium and other hormones, and imaging of the pituitary/pancreatic gland. […] Genetic testing is available in the UK and usually provided through specialist clinics or regional genetic centres.

• #2 Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

  https://www.wjgnet.com/1007-9327/full/v30/i43/4677.htm

  Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin. […] Despite advancements in the field, early diagnosis of multiple endocrine neoplasia type 1 (MEN1) remains unachievable. […] This letter underscored the importance of considering MEN1 in patients presenting with recurrent gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin levels. […] The discussed case demonstrated how a comprehensive diagnostic approach, including imaging studies and blood tests, can lead to timely surgical intervention and accurate diagnosis. […] The process typically begins with a thorough clinical evaluation where a healthcare provider assesses symptoms and conducts physical examinations to identify signs of endocrine tumors.

• #2 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  Multiple endocrine neoplasia, type 1 (MEN 1) is an autosomal dominant syndrome characterized by hyperplasia or adenomas of the parathyroid glands, pancreatic islet cell tumors (also known as pancreatic neuroendocrine tumors), and/or pituitary gland tumors. […] Diagnosis is by hormonal and imaging tests. […] MEN 1 syndrome should be considered in patients with tumors of the parathyroids, pancreas, or pituitary, particularly those with a family history of endocrinopathy. […] At-risk individuals should undergo genetic testing with direct DNA sequencing of a panel of genes that may cause MEN 1 or related syndromes, including MEN 4 and other forms of familial hyperparathyroidism. […] Additional laboratory or radiologic tests should be done if these screening tests suggest an endocrine abnormality related to MEN 1.

• #2 Multiple endocrine neoplasia type 1 | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-1/

  Multiple endocrine neoplasia type 1 is a rare inherited disease, which can result in tumours in the pituitary and parathyroid glands, and pancreas. […] How is multiple endocrine neoplasia type 1 diagnosed? […] MEN1 is diagnosed by genetic testing the MEN1 gene can be screened for mutations. This test is offered to people who have the clinical manifestations of MEN1 (diagnostic testing), or to the relatives of people known to have MEN1 (predictive testing). This should be performed through a Clinical Genetics service with appropriate genetic counselling. […] The main three types of tumours are diagnosed and monitored in different ways. Tumours have been described in children under the age of 10 and thus assessment is recommended to start as young as 5 years of age. […] 1. Primary hyperparathyroidism patients with MEN1 undergo regular measurement of blood calcium and parathyroid hormone levels. The diagnosis of primary hyperparathyroidism is made if the serum calcium is elevated together with the parathyroid hormone being high or inappropriately normal (it should be suppressed if blood calcium is high).

• #2 Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/126438-overview

  Multiple endocrine neoplasia type 1 (MEN1) is an endocrine tumor syndrome caused by inactivating mutations of the MEN1 tumor suppressor gene at the 11q13 locus. […] MEN1 predisposes to the development of tumors in target neuroendocrine tissues. […] Most MEN1 tumors are not aggressive, and many of them (particularly nonfunctioning tumors) follow a long-term indolent course, remaining asymptomatic for years. Nevertheless, patients with untreated MEN1 have a decreased life expectancy, with a 50% probability of death by age 50 years. […] Primary hyperparathyroidism, due to hyperplasia and/or adenoma of parathyroid glands, is the most common manifestation of multiple endocrine neoplasia type 1 (MEN1) and occurs in approximately 90% of all patients. […] Primary hyperparathyroidism in MEN1 can have a long-term asymptomatic course and is usually diagnosed by the incidental finding of elevated serum parathyroid hormone level in a patient with hypercalcemia or, in some cases, with normocalcemia.

• #2 Multiple Endocrine Neoplasia Type 1 (MEN1): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/126438-overview

  Pancreatic islet cell tumors represent the second most common manifestation of MEN1, occurring in 30-80% of patients. […] Gastrinomas, seen in the image below, are the most common functional pancreatic neuroendocrine tumors and occur in 40-55% of patients. […] Insulinomas are the second most common functioning pancreatic neuroendocrine tumor in MEN1, developing at young age ( 35 years) in approximately 10-30% of patients. […] MEN1-associated anterior pituitary tumors most commonly secrete prolactin (60%), followed by tumors that secrete growth hormone (25%). […] The rationale for an aggressive surveillance approach in MEN1 patients and asymptomatic carriers is based on the presumption that the early pre-symptomatic detection of MEN1 neoplasias may reduce the associated mortality. […] The peak incidence of symptoms in MEN1 is during the third decade of life in women and during the fourth decade of life in men.

• #2 Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

  https://www.wjgnet.com/1007-9327/full/v30/i43/4677.htm

  Biochemical tests are then performed to measure hormone levels in the blood, such as calcium, prolactin, and gastrin, which can indicate the presence of endocrine tumors. […] Imaging studies, including magnetic resonance imaging, computed tomography scans, and ultrasound, visualize tumors in the endocrine glands. […] Finally, genetic testing is conducted to identify mutations in the MEN1 gene, which can confirm the diagnosis, especially in individuals with a family history of the disorder. […] This comprehensive approach ensures accurate diagnosis and helps plan appropriate management and treatment strategies for patients with MEN1. […] Early diagnosis of MEN1 remains a significant challenge due to its diverse and often nonspecific clinical presentation. […] This underscores the need for heightened clinical awareness and a thorough, multidisciplinary approach to evaluation.

• #2 Multiple endocrine neoplasia type 1 | Endocrine Conditions

  https://www.yourhormones.info/endocrine-conditions/multiple-endocrine-neoplasia-type-1/

  2. Pituitary tumours surveillance of the pituitary is undertaken by checking blood tests (typically for prolactin and insulin-like growth factor-I levels). Routine magnetic resonance imaging (MRI) scans of the pituitary are performed every 3-5 years. If a patient reports any symptoms suggestive of a pituitary tumour then other pituitary hormone investigations can be performed as necessary; for example, specialist tests to investigate for Cushings disease. […] 3. Pancreatic NETs fasting blood tests are performed in hospital to measure the levels of hormones secreted by the tumours (fasting gut hormones and chromogranin A and B). Patients also undergo regular imaging to look for non-functioning tumours with a variety of techniques including MRI and CT scans, endoscopic ultrasound or nuclear medicine scans (octreotide or Gallium68-PET scan).

• #2 Multiple endocrine neoplasia type 1 | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-38

  The treatment for a non-metastatic gastrinoma is surgical resection. […] The treatment for multiple and disseminate gastrinomas consists of therapy with a human somatostatin analogue (octreotide), administration of proton pump inhibitors or H2-receptor blockers to reduce gastric acid output, chemotherapy with 5-fluoroaracil and streptozotocin, and surgical excision of all resectable tumours (however, the success rate seems very low). […] The diagnosis is made by documenting a markedly increased plasma VIP concentration (reference value 75 pg/ml). […] The diagnosis of MEN1 is suspected based on the presence of multiple endocrine tumours and confirmed through genetic testing for mutations in the MEN1 gene. […] Identification of a mutation in a patient enables testing for relatives. This allows early identification of asymptomatic mutant gene carriers and provides an indication for them to undergo periodic biochemical and/or radiological screening for MEN1-characteristic endocrine tumours.

• #2 Multiple Endocrine Neoplasia, Type 1 (MEN 1) – Endocrine and Metabolic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/multiple-endocrine-neoplasia-men-syndromes/multiple-endocrine-neoplasia-type-1-men-1

  A gastrin-secreting gastroenteropancreatic neuroendocrine (GEP-NET) tumor of the pancreas or duodenum is diagnosed by elevated basal plasma gastrin levels, an exaggerated gastrin response to infused calcium, and a paradoxical rise in gastrin level after infusion of secretin. […] Acromegaly is diagnosed by elevated growth hormone levels that are not suppressed by glucose administration and by elevated levels of serum insulin-like growth factor 1 (somatomedin C). […] Ultrasonography or computed tomography (CT) can help localize tumors. […] When an index case is identified, 1st-degree relatives should be given the option of genetic screening. […] Although early presymptomatic screening of family members of patients with MEN 1 has not been shown to reduce morbidity or mortality, a large cohort study reported a significant lag time between diagnosis of the index case and diagnosis in the rest of the family. […] Screening for breast cancer is recommended beginning at age 40 in women with MEN 1.

• #2 Multiple Endocrine Neoplasia Type 1 (MEN1): What patients should know about in 2024

  https://oncodaily.com/oncolibrary/cancer-types/multiple-endocrine-neoplasia-type-1-men1

  Genetic testing for Multiple Endocrine Neoplasia Type 1 (MEN1) helps determine if a person has a mutation in the MEN1 gene, which causes the condition. The test is a simple blood test that looks for changes in the MEN1 gene. If the mutation is found, doctors can monitor for tumors early, even before symptoms appear. […] Blood tests are an important tool for diagnosing and monitoring Multiple Endocrine Neoplasia Type 1 (MEN1). Since MEN1 causes tumors in hormone-producing glands, these tests help check for hormone imbalances that may signal a problem. Doctors may measure calcium and parathyroid hormone (PTH) levels to check for overactive parathyroid glands, which is often the first sign of MEN1. […] Since Multiple Endocrine Neoplasia Type 1 (MEN1) causes tumors in different hormone-producing glands, doctors use imaging tests to locate and monitor them. These tests help detect tumors in the parathyroid, pancreas, and pituitary glands, even before symptoms appear. Common imaging tests for MEN1 include ultrasound, MRI, CT Scan, and Nuclear Medicine Scans. […] Regular monitoring with blood tests and imaging scans is recommended, typically every 6-12 months, to detect and manage tumors early.

• #2 Multiple endocrine neoplasia 1 (MEN1) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/pre-cancerous-and-genetic-conditions/multiple-endocrine-neoplasia-1-men1

  If you have MEN1, you will have regular tests to check for early signs of a tumour developing. This is called screening. Screening helps your doctor find and treat tumours at an early stage, usually before symptoms cause problems. Screening may start from the age of 5. You usually have it once a year. But this may depend on your situation. […] You may have 1 or more scans as part of your screening. You usually have these scans at the hospital and go home on the same day.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Multiple-Endocrine-Neoplasia-Type-1-(MEN1).aspx

  MEN1 should be investigated for patients who have at least 2 tumors in the commonly affected glands: parathyroid, pancreatic islet cell, and pituitary gland. […] Genetic testing is available for individuals with a family history of multiple endocrine neoplasia type 1. This should be recommended for any patient with a known family history who has developed at least one tumor of the commonly affected pituitary glands. […] Diagnostic tests that may be required include: Blood tests to measure levels of calcium and hormones (e.g. prolactin, insulin-like growth factor (IGF-1), glucose and insulin), Magnetic resonance imaging (MRI) of the brain to detect changes, MRI or computed tomography (CT) scan of the chest and abdomen to detect changes.

• #2 Multiple Endocrine Neoplasia (MEN): Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/23088-multiple-endocrine-neoplasia-men

  Providers can also confirm a MEN type 1 diagnosis through genetic testing of the MEN1 gene. […] A person is diagnosed with MEN type 2 if they have medullary thyroid cancer (MTC) and pheochromocytoma and/or parathyroid enlargement (hyperplasia) or tumor (adenoma). […] Before a healthcare provider can diagnose MEN type 2, they need to diagnose medullary thyroid cancer (MTC) and other types of tumors in the individual. […] A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of MTC and other tumors. For example: Higher-than-normal levels of calcitonin can indicate MTC. […] Higher-than-normal levels of parathyroid hormone (PTH) can indicate a parathyroid tumor (adenoma) or hyperplasia. […] Higher-than-normal levels of catecholamines (a group of hormones produced by your adrenal glands) may indicate pheochromocytoma. […] Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors associated with MEN type 2. […] Providers can also confirm a MEN type 2 diagnosis through genetic testing of the RET gene.

• #2 Frontiers | Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00339/full

  Genetic evaluation in family members of patients with MEN1 was recently shown to result in the diagnosis of MEN 1, 10 years earlier than clinical or biochemical diagnosis. […] Screening for MEN1 mutations in the appropriate setting has several benefits including confirmation of the clinical diagnosis of MEN1, identification of family members that are carriers of MEN1 mutations, so that appropriate screening and/or treatment can be implemented, and identification of the 50% of family members that do not harbor a pathogenic mutation in MEN1 and thus do not require screening. […] According to the most recent clinical practice guidelines published in 2012 by Thakker et al. MEN1 mutational analysis should be performed in index cases with two or more MEN1-associated endocrine tumors (parathyroid, pancreatic, or pituitary tumors), asymptomatic first-degree relatives of a known MEN1 mutation carrier, first-degree relatives of a MEN1 mutation carrier expressing familial MEN1 (in order to exclude phenocopies), and in patients with suspicious or atypical MEN1. […] When possible, this testing should be undertaken in the first decade of life, and as early as before the age of 5, with the goal of detecting and preventing significant morbidity and even mortality.

• #2 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory | Genetics in Medicine

  https://www.nature.com/articles/gim200523

  Purpose: Based on results of diagnostic MEN1 testing, we have attempted to further define the mutational spectrum of the MEN1 gene and the clinical features most frequently associated with MEN1 mutations. […] DNA-based testing for MEN1 provides a means for more accurate diagnosis. Medical monitoring for signs and symptoms of MEN1-related neoplasms in at-risk individuals can lead to early interventions that are predicted to positively influence the course of the disease. Genetic testing has been recommended for index cases who meet clinical criteria for familial or sporadic MEN1, for those who do not meet formal MEN1 criteria but are suspicious for the syndrome, and for symptomatic or asymptomatic relatives of patients with known MEN1 mutations. […] Slightly 30% of the 288 pedigrees that we tested were found to have MEN1 mutations. The mutation detection rate in clinically diagnosed familial MEN1 patients is believed to be in the range of 80% to 90% with a somewhat lower detection rate for sporadic cases.

• #2 Multiple Endocrine Neoplasia in Childhood: An Update on Diagnosis, Screening, Management and Treatment

  https://www.mdpi.com/2673-396X/3/1/7

  Multiple endocrine neoplasia (MEN) is a group of heterogenous syndromes characterized by the occurrence of two or more endocrine gland tumors in a patient or related individuals in the same family. […] This review article provides an update on each MEN syndrome, its genetics, diagnosis, and management in children. […] Diagnosis of MEN1 can be made on clinical, familial, or genetic grounds. A clinical diagnosis is suspected if there are two or more MEN1-associated tumors. […] Identification of a germline MEN1 mutation secures a genetic diagnosis and is the primary means by which children and adolescents are diagnosed. […] In relatives of MEN1-affected patients, genetic testing should be completed before age 5 since children are often clinically asymptomatic. […] In approximately 5–25% of individuals with a clinical diagnosis of MEN1, a genetic mutation cannot be found.

• #2 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory | Genetics in Medicine

  https://www.nature.com/articles/gim200523

  In pedigrees that do meet the diagnostic criteria for familial MEN1, a failure to find mutations in the MEN1 gene could reflect the presence of functionally significant intronic mutations that would not be detected with currently used primer sets, mutations in regulatory or important nonintronic untranslated regions, disease phenocopies not caused by mutations in MEN1, or large deletions that would be missed by gene sequencing. […] The information presented here has value as a reflection of real-world experience. Although our data in some instances may have been limited, this is also true for referring physicians, who often receive incomplete family histories, and rarely have opportunities to systematically assess multiple family members within kindreds for the presence or absence of tumors in specific organs.

• #2 Multiple Endocrine Neoplasia Type 1 | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/genetic-syndromes/multiple-endocrine-neoplasia-type-1.html

  A health care provider may suspect that your child has MEN1 after studying their medical and family cancer history. […] Your provider or genetics counselor may recommend genetic testing if they suspect MEN1. […] A blood sample is sent to a genetic testing lab. The lab runs genetic tests that look for changes in the MEN1 gene. […] If your child has an MEN1 mutation, a genetic counselor will work with your family to: Find out if other family members should consider testing for an MEN1 mutation; Help your family understand their increased cancer risk; Give you information to help with your decisions about prenatal genetic testing. […] Even if genetic testing does not find a mutation in the MEN1 gene, a person can still have this condition. […] It is possible to have a clinical diagnosis of MEN1 without genetic testing. A person with any 2 of these kinds of endocrine tumors can be diagnosed with MEN1: Parathyroid gland tumors, Pituitary gland tumors, Stomach, intestine, or pancreas tumors (GEP tract tumors). […] A person who develops only 1 of the tumors listed above may be diagnosed with MEN1 if they have other family members diagnosed with the disorder.

• #2 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/multiple-endocrine-neoplasia-type-1

  Preferred initial test to confirm diagnosis of MEN1. […] A pathogenic MEN1 variant is identified in 80-90% of individuals who meet clinical criteria for MEN1 syndrome and have a family history of related cancers. […] A negative result does not exclude a diagnosis of MEN1. […] Diagnostic errors can occur due to rare sequence variations. […] Interpretation of this test result may be impacted if this patient has had an allogeneic stem cell transplantation. […] A pathogenic variant detected in MEN1 confirms diagnosis and etiology of MEN1. […] No pathogenic variants detected in MEN1 reduces the likelihood, but does not exclude, a diagnosis of MEN1.

• #2 Multiple Endocrine Neoplasias – MEN | Choose the Right Test

  https://arupconsult.com/content/multiple-endocrine-neoplasias

  ~20-55% of families with familial isolated hyperparathyroidism (FIHP) have germline MEN1 mutations. If the specific familial mutation has already been identified in a relative, testing can be performed on at-risk family members using familial mutation targeted sequencing. […] Initial biochemical testing can identify tumor presence. […] Periodic screening for Multiple Endocrine Neoplasia 1 (MEN1)-associated endocrine tumors beginning in early childhood and continuing for life. Consider annual testing for the following: Parathyroid tumor, Calcium (ionized), Electrolytes, Parathyroid hormone. […] Risk for malignant progression of MEN1-associated tumors depends on tumor type. Malignancy uncommon before early adulthood. […] RET mutation analysis confirms presence of mutation in patient with FMTC or pheochromocytoma. Presymptomatic testing of at-risk family members.

• #2 Orphanet: Multiple endocrine neoplasia type 1

  https://www.orpha.net/en/disease/detail/652

  A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients. […] MEN1 is clinically diagnosed in affected patients manifesting at least two of the main endocrine tumors (parathyroid, pituitary, and/or pancreatic) during their life. In these cases, the genetic testing is used and confirmed by the presence of a germinal mutation of the MEN1 gene. […] Prenatal diagnosis is possible, when one of the parent is carrier of a mutation of the MEN1. […] Annual life-long screening is recommended for all the carriers of a MEN1 mutations and individuals from affected families without an identified MEN1 mutations or who have not undergone the genetic test. Six-monthly screening is recommended for affected patients (CT, MRI, blood biochemistry).

• #2

  https://omim.org/entry/131100

  A number sign (#) is used with this entry because multiple endocrine neoplasia type I (MEN1) is caused by heterozygous mutation in the MEN1 gene (613733) on chromosome 11q13. […] Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of parathyroids, pancreatic islets, duodenal endocrine cells, and the anterior pituitary, with 94% penetrance by age 50. […] Familial isolated hyperparathyroidism (see 145000) occasionally results from the incomplete expression of MEN1 (summary by Simonds et al., 2004). […] The Zollinger-Ellison syndrome (ZES) may present purely as hyperparathyroidism. […] The Zollinger-Ellison syndrome is merely hypergastrinism and may have causes other than MEN I. […] Each MEN1 family probably has an inactivating MEN1 germline mutation. Testing for a germline MEN1 mutation gives useful information, but rarely mandates an intervention.

• #2 Multiple endocrine neoplasia type 1 in patients with gastroenteropancreatic neuroendocrine tumors: An opportunity for early diagnosis and appropriate management

  https://www.spandidos-publications.com/10.3892/mco.2020.2074

  Early diagnosis and the size of GEPNET are prognostic factors in patients with MEN1. […] In patients with sporadic GEPNET, a diagnostic delay of up to 96 months was recently reported, which may adversely affect the patient outcome. […] Furthermore, in patients with MEN1, the diagnostic delay was reported to be as long as 9.6 years for index cases and up to 3.5 years for family members. […] The median time from the onset of initial symptoms to the first tumor diagnosis was 42 months (range, 0-204 months) and the median time from the first tumor diagnosis to MEN1 diagnosis was 22 months (range, 1-109 months). […] The treatment approach and the outcomes of the patients with MEN1 are summarized in Table II. […] The long delay before a diagnosis of MEN1 is established has been previously reported in studies from countries including Brazil, Japan, The Netherlands, United States, Greece, and France/Belgium.

• #2 Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

  https://www.wjgnet.com/1007-9327/full/v30/i43/4677.htm

  By recognizing the potential for MEN1 early in the diagnostic process, clinicians can improve outcomes through timely intervention. […] This case emphasized the importance of integrating MEN1 into the differential diagnosis of gastrointestinal symptoms, especially in the presence of biochemical abnormalities like hypercalcemia and elevated gastrin. […] Ongoing education and updated clinical guidelines that stress the importance of early recognition may lead to improved management and patient outcomes.

• #2 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Despite our better understanding of the pathogenesis of the disease and the many diagnostic and therapeutic advances, the evidence on what could be the optimum diagnosis and treatment strategy is still scarce due to the rarity of the disease and the limited data available for certain tumor manifestations. […] The identification of the gene that causes MEN1 has deepened our understanding of the disease and led to advances in the diagnosis and treatment of the condition. Screening programs in specialized centers can help to detect tumor manifestations in time and provide organ-sparing treatment. With this approach, it has been possible to improve both life expectancy and quality of life. Nevertheless, some questions still remain as to how best to diagnose the disease and optimize the treatment strategy.

• #2 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 320/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. In this article, we review the diagnostic and therapeutic options for MEN1-associated tumors. […] The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. The early diagnosis and individualized treatment of MEN1-associated tumors can prevent the development of life-threatening hormonal syndromes and prolong the expected life span of MEN1 patients from 55 to 70 years, as well as improving their quality of life.

• #2 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Using a predictive genetic test, affected individuals, having received genetic counseling, can now be diagnosed early and included in a regular screening program. […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] Given the complexity of the disease, specific diagnosis and treatment should be the responsibility of a multidisciplinary team (covering endocrinology, gastroenterology, surgery, radiology, nuclear medicine, and pathology). […] Currently, no mutation can be detected in 5-10% of cases presenting with the clinical picture of MEN1 syndrome. […] Genetic testing is an important component of the diagnostic work-up of affected patients and their families. In the first instance, it confirms the diagnosis of MEN1 syndrome in index patients.

• #3 Improving early diagnosis of multiple endocrine neoplasia type 1 by assessing the gastrointestinal symptoms, hypercalcemia, and elevated serum gastrin

  https://www.wjgnet.com/1007-9327/full/v30/i43/4677.htm

  Biochemical tests are then performed to measure hormone levels in the blood, such as calcium, prolactin, and gastrin, which can indicate the presence of endocrine tumors. […] Imaging studies, including magnetic resonance imaging, computed tomography scans, and ultrasound, visualize tumors in the endocrine glands. […] Finally, genetic testing is conducted to identify mutations in the MEN1 gene, which can confirm the diagnosis, especially in individuals with a family history of the disorder. […] This comprehensive approach ensures accurate diagnosis and helps plan appropriate management and treatment strategies for patients with MEN1. […] Early diagnosis of MEN1 remains a significant challenge due to its diverse and often nonspecific clinical presentation. […] This underscores the need for heightened clinical awareness and a thorough, multidisciplinary approach to evaluation.

• #3 Multiple Endocrine Neoplasia Type 1 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK536980/

  Multiple endocrine neoplasia type 1 (MEN1) is a rare endocrine tumor syndrome with high penetrance. This activity outlines the evaluation and management of MEN Type 1 and reviews the role of the interprofessional team in improving care for patients with this condition. […] MEN1 gene testing in an index case can confirm the diagnosis and allow early detection of asymptomatic mutation carriers years before a MEN1-associated tumor can be detected. However, approximately 20% of MEN1 kindred have no mutation in the MEN1 gene. […] Diagnosis of MEN1 is established if the index case has at least two of the primary manifestations of MEN1 Syndrome (tumor of parathyroid glands, anterior pituitary gland, and a neuroendocrine component of gastro-entero-pancreatic tissue) or at least one MEN1-related tumor and a first-degree relative with confirmed MEN1 (positive MEN1 gene mutation), or finally, the index case has the pathologic mutation in the MEN1 gene.

• #3 Multiple Endocrine Neoplasia Type 1 (MEN1) | Doctor

  https://patient.info/doctor/multiple-endocrine-neoplasia-type-1-men1

  DNA testing is available and mutation analysis may be used to confirm the clinical diagnosis, provide a genetic diagnosis and screen asymptomatic family members. […] Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in a family is known. […] […] […] The screening of first- and second-degree relatives of patients with MEN1 is aimed at early detection of parathyroid, pancreatic or pituitary lesions in gene carriers, to reduce the associated morbidity. […] Screening of patients with apparently sporadic pancreatic endocrine tumours for evidence of MEN1 is probably justified, especially in those with gastrinomas or insulinomas. […] Routine germline MEN1 mutation testing of all cases of 'classical’ MEN1, familial hyperparathyroidism and sporadic hyperparathyroidism with one other MEN1-related condition is justified by national testing services and testing should be considered for patients under 30 years old with sporadic hyperparathyroidism and multigland hyperplasia. […] Genetic linkage analysis has greater than 95% predictive accuracy and in most families a haplotype associated with the mutant allele can be found. If three markers can be identified, the accuracy improves to greater than 99%.

• #3 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Using a predictive genetic test, affected individuals, having received genetic counseling, can now be diagnosed early and included in a regular screening program. […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] Given the complexity of the disease, specific diagnosis and treatment should be the responsibility of a multidisciplinary team (covering endocrinology, gastroenterology, surgery, radiology, nuclear medicine, and pathology). […] Currently, no mutation can be detected in 5-10% of cases presenting with the clinical picture of MEN1 syndrome. […] Genetic testing is an important component of the diagnostic work-up of affected patients and their families. In the first instance, it confirms the diagnosis of MEN1 syndrome in index patients.

• #3 Multiple endocrine neoplasia 1 (MEN1) | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/worried-about-cancer/pre-cancerous-and-genetic-conditions/multiple-endocrine-neoplasia-1-men1

  Diagnosing MEN1 […] If doctors think you might have MEN1, they will arrange tests and scans. […] It is likely that you have MEN1 if: you have 2 or more endocrine tumours commonly linked to MEN1; you have 1 endocrine tumour commonly linked to MEN1, and a member of your family has MEN1; a genetic test shows you have a MEN1 gene variant. […] If your doctor thinks you may have MEN1, you may be offered genetic testing. This involves having a blood test. Your blood is checked to see whether you have a MEN1 gene variant. […] Sometimes genetic testing does not find a variant. But you may still be affected by MEN1. This could be because you have a variant in a gene that doctors do not know about yet. In this case, you and your family may still be offered screening tests to find any possible problems as early as possible.

• #3 Multiple Endocrine Neoplasia Type 1 (MEN1): What patients should know about in 2024

  https://oncodaily.com/oncolibrary/cancer-types/multiple-endocrine-neoplasia-type-1-men1

  Genetic testing for Multiple Endocrine Neoplasia Type 1 (MEN1) helps determine if a person has a mutation in the MEN1 gene, which causes the condition. The test is a simple blood test that looks for changes in the MEN1 gene. If the mutation is found, doctors can monitor for tumors early, even before symptoms appear. […] Blood tests are an important tool for diagnosing and monitoring Multiple Endocrine Neoplasia Type 1 (MEN1). Since MEN1 causes tumors in hormone-producing glands, these tests help check for hormone imbalances that may signal a problem. Doctors may measure calcium and parathyroid hormone (PTH) levels to check for overactive parathyroid glands, which is often the first sign of MEN1. […] Since Multiple Endocrine Neoplasia Type 1 (MEN1) causes tumors in different hormone-producing glands, doctors use imaging tests to locate and monitor them. These tests help detect tumors in the parathyroid, pancreas, and pituitary glands, even before symptoms appear. Common imaging tests for MEN1 include ultrasound, MRI, CT Scan, and Nuclear Medicine Scans. […] Regular monitoring with blood tests and imaging scans is recommended, typically every 6-12 months, to detect and manage tumors early.

• #3 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614

  Despite our better understanding of the pathogenesis of the disease and the many diagnostic and therapeutic advances, the evidence on what could be the optimum diagnosis and treatment strategy is still scarce due to the rarity of the disease and the limited data available for certain tumor manifestations. […] The identification of the gene that causes MEN1 has deepened our understanding of the disease and led to advances in the diagnosis and treatment of the condition. Screening programs in specialized centers can help to detect tumor manifestations in time and provide organ-sparing treatment. With this approach, it has been possible to improve both life expectancy and quality of life. Nevertheless, some questions still remain as to how best to diagnose the disease and optimize the treatment strategy.

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