Materiały źródłowe

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

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

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions) is recommended. […] As many of the organs at highest risk of tumour development in MEN1 syndrome such as duodenum, pancreas and lungs (bronchial carcinoids) are not suitable for preventive ablative surgery, routine surveillance of asymptomatic MEN1 at-risk individuals by biochemical analysis and imaging procedures (beginning in early childhood and continuing for life) is recommended.

• #2 Co-occurrence of papillary thyroid carcinoma and multiple endocrine neoplasia type 1: a case report | ECE2024 | 26th European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0099/ea0099ep1007

  Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) represents a rare genetic disorder characterized by a predisposition to various endocrine neoplasms, primarily affecting the parathyroid, endocrine pancreas, and pituitary gland. […] Discussion: Our case underscores a rare occurrence of the association between PTC and MEN1. While PTC is often linked to BRAF V600E mutation other pro-oncogenic mutations, including MEN1 mutation, are also possible. However, this association is not well established. Further cases are required to validate this potential correlation.

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

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

  Can I prevent multiple endocrine neoplasia (MEN)? Unfortunately, you cannot prevent developing multiple endocrine neoplasia since its a genetic mutation. The gene mutations that cause MEN are either inherited from a biological parent or happen randomly for no known reason at the embryo level (when you were developing in the uterus). […] If one of your first-degree relatives (biological parents and siblings) has been diagnosed with MEN, talk to your healthcare provider about genetic testing that can screen for MEN. If you do have MEN, genetic testing could help detect the tumors in their early phases.

• #4 MEN Syndromes | Endocrinology and Diabetes

  https://health.ucdavis.edu/conditions/multiple-endocrine-neoplasia-syndromes

  You cant prevent the gene change that causes MEN syndromes. However, certain steps may lower your risk of cancer or passing on the gene mutation. […] If you have a gene mutation that causes MEN syndromes and want to have children, you may consider in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). PGD tests embryos for certain genetic diseases. A provider implants embryos that dont have the mutated gene. Our reproductive endocrinology experts can help. […] People with MEN2A or MEN2B are at high risk for an aggressive type of thyroid cancer. Your provider may recommend surgery to remove your thyroid gland before cancer has a chance to develop or spread.

• #5 MEN Syndromes | Endocrinology and Diabetes

  https://health.ucdavis.edu/conditions/multiple-endocrine-neoplasia-syndromes

  You cant prevent the gene change that causes MEN syndromes. However, certain steps may lower your risk of cancer or passing on the gene mutation. […] If you have a gene mutation that causes MEN syndromes and want to have children, you may consider in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). PGD tests embryos for certain genetic diseases. A provider implants embryos that dont have the mutated gene. Our reproductive endocrinology experts can help. […] People with MEN2A or MEN2B are at high risk for an aggressive type of thyroid cancer. Your provider may recommend surgery to remove your thyroid gland before cancer has a chance to develop or spread.

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

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

  Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. […] Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions) is recommended. […] As many of the organs at highest risk of tumour development in MEN1 syndrome such as duodenum, pancreas and lungs (bronchial carcinoids) are not suitable for preventive ablative surgery, routine surveillance of asymptomatic MEN1 at-risk individuals by biochemical analysis and imaging procedures (beginning in early childhood and continuing for life) is recommended.

• #7 Balancing the Benefits and Harms of Multiple Endocrine Neoplasia Type 1 (MEN1) Tumor ScreeningBalancing the Benefits and Harms of Multiple Endocrine Neoplasia Type 1 (MEN1) Tumor Screening, Cancer Screening

  https://www.ebsco.com/blogs/health-notes/balancing-benefits-and-harms-multiple-endocrine-neoplasia-type-1-men1-tumor

  Due to its high penetrance, screening for MEN1-related tumors is extremely important for improving prognosis and preventing mortality. Current screening guidelines recommend clinical, biochemical, and radiological screening for MEN1-related tumors every one-three years starting as young as five years old. […] Screening for MEN-1 related tumors is important, but is it effective enough to warrant the high physical, mental, and financial burden? […] To address the uncertainties surrounding MEN1 screening, larger studies and new biomarkers that can predict tumor behavior and disease course are needed; in the meantime, employing a joint decision-making approach can help patients feel that they have more control and alleviate some of their anxiety. […] Tips for developing a balanced and thoughtful approach to screening for MEN1-related tumors: Consider patient preferences when making decisions about screening frequency and modality.

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

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

  Diagnosis may result from screening of first- and second-degree relatives of patients with MEN1. […] 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. […] 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.

• #9 Multiple endocrine neoplasia (MEN) I: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000398.htm

  Screening close relatives of people affected with this disorder is recommended.

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

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

  Diagnosis may result from screening of first- and second-degree relatives of patients with MEN1. […] 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. […] 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.

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

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

  According to the International Guidelines for Diagnosis and Therapy of the MENs syndromes the minimal surveillance program for individuals known to have MEN1 syndrome or to have a family-specific mutation of the MEN1 gene should include: biochemical evaluation of serum concentration of prolactin from age 5; biochemical screening of fasting total serum calcium concentration (corrected for albumin) from age 8; biochemical screening of fasting serum gastrin concentration from age 20; magnetic resonance imaging (MRI) of the head from age 5 and every 3-5 years; abdominal CT or MRI from age 20 and every 3-5 years. […] In addition, it is possible to perform prophylactic thymectomy to prevent thymic carcinoids; it should be considered at the time of neck surgery for PHPT, particularly in men with MEN1 syndrome who are smokers and/or have relatives with thymic carcinoids.

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

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

  According to the International Guidelines for Diagnosis and Therapy of the MENs syndromes the minimal surveillance program for individuals known to have MEN1 syndrome or to have a family-specific mutation of the MEN1 gene should include: biochemical evaluation of serum concentration of prolactin from age 5; biochemical screening of fasting total serum calcium concentration (corrected for albumin) from age 8; biochemical screening of fasting serum gastrin concentration from age 20; magnetic resonance imaging (MRI) of the head from age 5 and every 3-5 years; abdominal CT or MRI from age 20 and every 3-5 years. […] In addition, it is possible to perform prophylactic thymectomy to prevent thymic carcinoids; it should be considered at the time of neck surgery for PHPT, particularly in men with MEN1 syndrome who are smokers and/or have relatives with thymic carcinoids.

• #13 Childhood Multiple Endocrine Neoplasia (MEN) Syndromes Treatment (PDQ®): Treatment – Health Professional Information [NCI] | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.childhood-multiple-endocrine-neoplasia-men-syndromes-treatment-pdq%C2%AE-treatment-health-professional-information-nci.ncicdr0000800107

  Clinical practice guidelines recommend that screening for patients with MEN1 syndrome begins by age 5 years and continues throughout life. The tests for screening are age specific and may include yearly serum calcium, parathyroid hormone, gastrin, glucagon, secretin, proinsulin, chromogranin A, prolactin, and IGF-1. Radiological screening should include magnetic resonance imaging of the brain and computed tomography of the abdomen every 1 to 3 years.[2,3,4] […] For children with MEN2A syndrome, thyroidectomy is commonly performed by approximately age 5 years or older if that is when a RET variant is identified.[2,3,4,5,6,7] […] Because of the increased severity of medullary thyroid carcinoma in children with MEN2B syndrome and in those with RET variants in codons 883, 918, and 922, it is recommended that these children undergo prophylactic thyroidectomy in infancy.[3,16,17]; [18][Level of evidence C2] This therapy can improve outcomes in patients with MEN2B syndrome.[19] Complete removal of the thyroid gland is recommended because of a high incidence of bilateral disease.

• #14 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

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

  The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. […] 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). […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] The treatment of MEN1-associated pituitary adenoma is similar to that of sporadic pituitary adenoma. It is determined based on the size of the tumor and its functional activity. […] MEN1-associated primary hyperparathyroidism (pHPT) is diagnosed based on laboratory tests showing hypercalcemia (calcium 2.65 mmol/L) and elevated parathyroid hormone levels (parathyroid hormone 65 ng/L). Surgery is always indicated, given that long-term hypercalcemia can result in secondary damage such as osteoporosis, depression, kidney stones or gastric ulcers.

• #15 Facts for people and families with Multiple Endocrine Neoplasia type 1

  https://www.eviq.org.au/cancer-genetics/consumer-information/3447-facts-for-people-and-families-with-multiple-e

  This fact sheet contains general information about Multiple Endocrine Neoplasia type 1 (MEN type 1). Each person should be referred to a genetic service for further information and advice. […] Family members (including children) can be referred to a genetic service where experts can provide information, advice and support about their chance of developing cancer and the option of genetic testing. […] To find tumours and cancer early, people with MEN type 1 should have a blood test to check their hormone levels and a physical examination with a doctor every year from age 10 years. […] To find tumours and cancer early, people with MEN type 1 should have imaging to check their brain at age 10 years. This imaging should then be done every four years from age 20 years. Imaging to check the pancreas, duodenum, chest and adrenal glands should be done every 2 years from age 20 years. This involves having MRI scans.

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

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

  According to the International Guidelines for Diagnosis and Therapy of the MENs syndromes the minimal surveillance program for individuals known to have MEN1 syndrome or to have a family-specific mutation of the MEN1 gene should include: biochemical evaluation of serum concentration of prolactin from age 5; biochemical screening of fasting total serum calcium concentration (corrected for albumin) from age 8; biochemical screening of fasting serum gastrin concentration from age 20; magnetic resonance imaging (MRI) of the head from age 5 and every 3-5 years; abdominal CT or MRI from age 20 and every 3-5 years. […] In addition, it is possible to perform prophylactic thymectomy to prevent thymic carcinoids; it should be considered at the time of neck surgery for PHPT, particularly in men with MEN1 syndrome who are smokers and/or have relatives with thymic carcinoids.

• #17 Genetic Disorder Reference Sheet: Multiple Endocrine Neoplasia Type 1 | Oncology Nursing Society

  http://www.ons.org/publications-research/voice/news-views/genetic-disorder-reference-sheet-multiple-endocrine

  Ideally, people with a pathogenic MEN1 variant are managed by an interprofessional team that is familiar with its multiple complications. Complex recommended screening includes: […] Parathyroidectomy is the risk-reduction method of choice, but evidence is conflicting about whether to perform subtotal (less than 3.5 glands) or total parathyroidectomy and whether surgery should be performed at an early or late disease stage. Adults should have the surgery to prevent serious bone complications. […] Thymectomy may prevent thymic carcinoid tumors and can be considered at the time of parathyroid neck surgery, particularly in smokers and individuals with a family history of thymic carcinoma.

• #18 Diagnosis and Management of Multiple Endocrine Neoplasia Type 1 (MEN1) | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/1897-4287-3-1-1

  MEN1-associated tumours can be detected and treated at an early stage through periodical clinical monitoring of mutation carriers. […] Periodical clinical monitoring makes presymptomatic detection and treatment of MEN1-associated tumours possible. This will be beneficial for both life expectancy and quality of life of MEN1 patients. […] For prevention, when parathyroid adenomas are removed during a neck dissection, the thymus could be removed at the same time.

• #19 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614/Multiple-endocrine-neoplasia-type-1-the-current-status-of-disease-management

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The effectiveness of somatostatin analogues (SSAs) with regard to the disease course in patients with MEN1-associated pNENs has been evaluated in a limited number of studies. […] With regular screening examinations and early treatment, an improvement in the mean life expectancy of patients with MEN1 compared to historic cohorts before 1990 is noted. […] 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.

• #20 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

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

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The extent to which the parathyroid gland tissue should be removed is subject to ongoing controversy. […] Given the fact that all parathyroid glands are affected due to the underlying genetic predisposition, bilateral neck exploration with subtotal (3.5 parathyroid gland resection) or total parathyroidectomy with autotransplantation of parathyroid tissue was performed in the past. […] The treatment of MEN1-associated duodenopancreatic neuroendocrine neoplasms (dpNENs) is also based on tumor size, observed growth dynamics and functional activity. […] We strongly advise against performing prophylactic pancreatic resection, a surgical management strategy that was sometimes used in the past, as it is likely that after total pancreatectomy, the patient will develop diabetes which is difficult to control.

• #21 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

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

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The extent to which the parathyroid gland tissue should be removed is subject to ongoing controversy. […] Given the fact that all parathyroid glands are affected due to the underlying genetic predisposition, bilateral neck exploration with subtotal (3.5 parathyroid gland resection) or total parathyroidectomy with autotransplantation of parathyroid tissue was performed in the past. […] The treatment of MEN1-associated duodenopancreatic neuroendocrine neoplasms (dpNENs) is also based on tumor size, observed growth dynamics and functional activity. […] We strongly advise against performing prophylactic pancreatic resection, a surgical management strategy that was sometimes used in the past, as it is likely that after total pancreatectomy, the patient will develop diabetes which is difficult to control.

• #22 A New Medical Therapy for Multiple Endocrine Neoplasia Type 1? – touchENDOCRINOLOGY

  https://touchendocrinology.com/endocrine-oncology/journal-articles/a-new-medical-therapy-for-multiple-endocrine-neoplasia-type-1/

  Pancreatic neuroendocrine tumours (pNETs) are a major manifestation of multiple endocrine neoplasia type 1 (MEN1), and the most significant cause of morbidity and mortality in this disorder. […] There is some evidence that the early use of somatostatin analogues can retard progression, especially of small non-functioning tumours, but there are no other prophylactic therapies for patients, and the treatment of metastatic disease is similar to that for sporadic pNETs. […] The high prevalence and malignant potential of pNETs in MEN1 emphasize the need for an evidence-based screening programme at an early stage to enable meticulous follow-up and timely intervention to prevent metastatic disease. […] In terms of medical therapy that could be initiated at an early stage to avoid metastatic spread, somatostatin analogues represent the first therapeutic option in patients affected with low-grade (G1-G2) NETs.

• #23 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614/Multiple-endocrine-neoplasia-type-1-the-current-status-of-disease-management

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The effectiveness of somatostatin analogues (SSAs) with regard to the disease course in patients with MEN1-associated pNENs has been evaluated in a limited number of studies. […] With regular screening examinations and early treatment, an improvement in the mean life expectancy of patients with MEN1 compared to historic cohorts before 1990 is noted. […] 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.

• #24 A New Medical Therapy for Multiple Endocrine Neoplasia Type 1? – touchENDOCRINOLOGY

  https://touchendocrinology.com/endocrine-oncology/journal-articles/a-new-medical-therapy-for-multiple-endocrine-neoplasia-type-1/

  Nevertheless, there has remained a distinct lack of other specific medical therapies for pNETs in patients with MEN1, either as prophylaxis against metastasis or to retard initial progression. […] From that point of view, it may be that this re-purposed agent, which is reputedly inexpensive, could play a more important role in the prophylaxis of pNETs in MEN1. […] Leflunomide can achieve targeted killing of early tumours with a small size and few mutations, thus suggesting early therapeutic intervention and effective prevention. […] Summarizing the above results, this study may provide new ideas and strategies for the treatment of patients with MEN1-mutated tumours and the prevention of MEN1-induced lethality, which are important aims in current research.

• #25 Role of Nutrition in the Management of Patients with Multiple Endocrine Neoplasia Type 1

  https://www.mdpi.com/2072-6643/16/11/1576

  Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome caused by inactivating mutations in the MEN1 tumor suppressor gene. […] It is important to remember the fundamental role that diet plays as a primary prevention tool, together with a healthy and active lifestyle in preventing osteoporosis/osteopenia and reducing the risk of developing kidney stones due to hypercalciuria, two frequent clinical complications in MEN1 patients. […] Nutrition can be a valuable aid, together with a healthy and active lifestyle, in the prevention of osteoporosis, and in reducing the risk of developing kidney stones, two frequent clinical complications in patients with MEN1 syndrome and PHPT. […] This review aims to outline nutritional indications for MEN1 patients, to direct them towards the “right diet” to follow, both as prevention and as treatment of the main nutritional deficiencies they may encounter, emphasizing the importance that MEN1 patients should be followed a multidisciplinary team that includes not only the endocrinologist, the surgeon, the oncologist, the radiotherapist, but also the nutritionist/dietitian.

• #26 Role of Nutrition in the Management of Patients with Multiple Endocrine Neoplasia Type 1

  https://www.mdpi.com/2072-6643/16/11/1576

  The nutritionist/dietitian must take into account these clinical aspects, in drawing up the MEN1 patient’s food plan, paying attention primarily to the amount of dairy dietary calcium intake, but also granting a correct intake of phosphorus, magnesium, and vitamin D, all factors that regulate bone metabolism. […] Dietary sodium levels should be limited to less than 1.5 g per day in adults, as recommended by the LARN 2014. […] Dietary calcium intake should be at least 1200 mg per day (calcium should preferably be obtained from food, rather than supplements). […] Therefore, the only way to reduce intestinal absorption of oxalate is to use adequate dietary sources of calcium or supplements in the case of oxalate-rich meals or try to limit consumption of the above-mentioned foods. […] It is essential to underline the importance of managing MEN1 patients through a multidisciplinary approach, which should include also the figure of the nutritionist/dietitian, a specific aspect that is currently missing in the global management of MEN1 syndrome.

• #27 Role of Nutrition in the Management of Patients with Multiple Endocrine Neoplasia Type 1

  https://www.mdpi.com/2072-6643/16/11/1576

  The nutritionist/dietitian must take into account these clinical aspects, in drawing up the MEN1 patient’s food plan, paying attention primarily to the amount of dairy dietary calcium intake, but also granting a correct intake of phosphorus, magnesium, and vitamin D, all factors that regulate bone metabolism. […] Dietary sodium levels should be limited to less than 1.5 g per day in adults, as recommended by the LARN 2014. […] Dietary calcium intake should be at least 1200 mg per day (calcium should preferably be obtained from food, rather than supplements). […] Therefore, the only way to reduce intestinal absorption of oxalate is to use adequate dietary sources of calcium or supplements in the case of oxalate-rich meals or try to limit consumption of the above-mentioned foods. […] It is essential to underline the importance of managing MEN1 patients through a multidisciplinary approach, which should include also the figure of the nutritionist/dietitian, a specific aspect that is currently missing in the global management of MEN1 syndrome.

• #28 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

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

  The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. […] 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). […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] The treatment of MEN1-associated pituitary adenoma is similar to that of sporadic pituitary adenoma. It is determined based on the size of the tumor and its functional activity. […] MEN1-associated primary hyperparathyroidism (pHPT) is diagnosed based on laboratory tests showing hypercalcemia (calcium 2.65 mmol/L) and elevated parathyroid hormone levels (parathyroid hormone 65 ng/L). Surgery is always indicated, given that long-term hypercalcemia can result in secondary damage such as osteoporosis, depression, kidney stones or gastric ulcers.

• #29 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614/Multiple-endocrine-neoplasia-type-1-the-current-status-of-disease-management

  The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. […] 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). […] After clinical and genetic confirmation of the diagnosis, participation in a screening program is recommended to all patients with MEN1. […] The treatment of MEN1-associated pituitary adenoma is similar to that of sporadic pituitary adenoma. It is determined based on the size of the tumor and its functional activity. […] MEN1-associated primary hyperparathyroidism (pHPT) is diagnosed based on laboratory tests showing hypercalcemia (calcium 2.65 mmol/L) and elevated parathyroid hormone levels (parathyroid hormone 65 ng/L). Surgery is always indicated, given that long-term hypercalcemia can result in secondary damage such as osteoporosis, depression, kidney stones or gastric ulcers.

• #30 Role of Nutrition in the Management of Patients with Multiple Endocrine Neoplasia Type 1

  https://www.mdpi.com/2072-6643/16/11/1576

  The nutritionist/dietitian must take into account these clinical aspects, in drawing up the MEN1 patient’s food plan, paying attention primarily to the amount of dairy dietary calcium intake, but also granting a correct intake of phosphorus, magnesium, and vitamin D, all factors that regulate bone metabolism. […] Dietary sodium levels should be limited to less than 1.5 g per day in adults, as recommended by the LARN 2014. […] Dietary calcium intake should be at least 1200 mg per day (calcium should preferably be obtained from food, rather than supplements). […] Therefore, the only way to reduce intestinal absorption of oxalate is to use adequate dietary sources of calcium or supplements in the case of oxalate-rich meals or try to limit consumption of the above-mentioned foods. […] It is essential to underline the importance of managing MEN1 patients through a multidisciplinary approach, which should include also the figure of the nutritionist/dietitian, a specific aspect that is currently missing in the global management of MEN1 syndrome.

• #31 Genetic Disorder Reference Sheet: Multiple Endocrine Neoplasia Type 1 | Oncology Nursing Society

  http://www.ons.org/publications-research/voice/news-views/genetic-disorder-reference-sheet-multiple-endocrine

  Ideally, people with a pathogenic MEN1 variant are managed by an interprofessional team that is familiar with its multiple complications. Complex recommended screening includes: […] Parathyroidectomy is the risk-reduction method of choice, but evidence is conflicting about whether to perform subtotal (less than 3.5 glands) or total parathyroidectomy and whether surgery should be performed at an early or late disease stage. Adults should have the surgery to prevent serious bone complications. […] Thymectomy may prevent thymic carcinoid tumors and can be considered at the time of parathyroid neck surgery, particularly in smokers and individuals with a family history of thymic carcinoma.

• #32 A case of multiple endocrine neoplasia type 1 presenting with dopamine agonist-resistant aggressive macroprolactinoma and PTH-driven hypercalcemia | SFEBES2025 | Society for Endocrinology BES 2025 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0109/ea0109p306

  A case of multiple endocrine neoplasia type 1 presenting with dopamine agonist-resistant aggressive macroprolactinoma and PTH-driven hypercalcemia […] Early recognition of MEN1 syndrome specially in young patients with resistant macroprolactinomas is crucial for appropriate surveillance and management of concurrent endocrine neoplasms.

• #33 Balancing the Benefits and Harms of Multiple Endocrine Neoplasia Type 1 (MEN1) Tumor ScreeningBalancing the Benefits and Harms of Multiple Endocrine Neoplasia Type 1 (MEN1) Tumor Screening, Cancer Screening

  https://www.ebsco.com/blogs/health-notes/balancing-benefits-and-harms-multiple-endocrine-neoplasia-type-1-men1-tumor

  Finally, the psychological effect of cancer screening for patients with MEN1 is not trivial, and it should be taken into consideration when deciding on a screening approach. Screening for MEN1-related tumors can be overwhelming, but including patients in the decision-making process may help lessen the mental, physical, and financial burden.

• #34 Multiple Endocrine Neoplasia Syndromes (MEN) – Hormonal and Metabolic Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/multiple-endocrine-neoplasia-syndromes/multiple-endocrine-neoplasia-syndromes-men

  People with multiple endocrine neoplasia type 1 develop tumors, or excessive growth and activity, of two or more of the following glands: […] Because medullary thyroid cancer is ultimately fatal if untreated, doctors will most likely recommend preventive surgical removal of the thyroid gland if genetic testing has revealed evidence of multiple endocrine neoplasia type 2A or type 2B. This preventive surgery is done even if the diagnosis of medullary thyroid cancer has not been made before the surgery. […] Periodic monitoring with blood and imaging studies is important but may add to the anxiety. Counseling may be needed to help people better understand their disease and cope with this anxiety.

• #35 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

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

  With regular screening examinations and early treatment, an improvement in the mean life expectancy of patients with MEN1 compared to historic cohorts before 1990 is noted. […] Nevertheless, there is a need to further optimize the diagnosis and treatment strategies. […] Screening programs in specialized centers can help to detect tumor manifestations in time and provide organ-sparing treatment.

• #36 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614/Multiple-endocrine-neoplasia-type-1-the-current-status-of-disease-management

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The effectiveness of somatostatin analogues (SSAs) with regard to the disease course in patients with MEN1-associated pNENs has been evaluated in a limited number of studies. […] With regular screening examinations and early treatment, an improvement in the mean life expectancy of patients with MEN1 compared to historic cohorts before 1990 is noted. […] 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.

• #37 Diagnosis and Management of Multiple Endocrine Neoplasia Type 1 (MEN1) | Hereditary Cancer in Clinical Practice | Full Text

  https://hccpjournal.biomedcentral.com/articles/10.1186/1897-4287-3-1-1

  MEN1-associated tumours can be detected and treated at an early stage through periodical clinical monitoring of mutation carriers. […] Periodical clinical monitoring makes presymptomatic detection and treatment of MEN1-associated tumours possible. This will be beneficial for both life expectancy and quality of life of MEN1 patients. […] For prevention, when parathyroid adenomas are removed during a neck dissection, the thymus could be removed at the same time.

• #38 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

  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. […] 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.

• #39 Multiple Endocrine Neoplasia Type 1 (09.08.2024)

  https://di.aerzteblatt.de/int/archive/article/240614/Multiple-endocrine-neoplasia-type-1-the-current-status-of-disease-management

  In order to prevent permanent hypoparathyroidism after surgery, subtotal parathyroid resection is performed, sparing 50 mg of parathyroid tissue with the most normal macroscopic aspect. […] The effectiveness of somatostatin analogues (SSAs) with regard to the disease course in patients with MEN1-associated pNENs has been evaluated in a limited number of studies. […] With regular screening examinations and early treatment, an improvement in the mean life expectancy of patients with MEN1 compared to historic cohorts before 1990 is noted. […] 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.

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