{"doi":"10.1007/s10689-025-00440-4","title":"Progress report on multiple endocrine neoplasia type 1","abstract":"<jats:title>Abstract</jats:title>\n          <jats:p>Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the <jats:italic>MEN1</jats:italic> tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN. Management of PHPT differs from that of patients with sporadic disease, as the surgical approach in MEN1-related PHPT includes near-total or total parathyroidectomy because of multigland hyperplasia in most patients and the consequent high risk of recurrence. NEN management also differs from patients with sporadic disease due to multiple synchronous and metasynchronous neoplasms. In addition, the lifelong risk of developing NEN requires special considerations to avoid excessive surgeries and to minimize damage to the patient’s function and well-being. This progress report will outline current insights into surveillance and management of the major clinical manifestation of MEN1 syndrome in children and adults with MEN1 diagnosis. In addition, we will discuss MEN1-like clinical presentation with negative <jats:italic>MEN1</jats:italic>-genetic workup and future clinical and research directions.</jats:p>","journal":"Familial Cancer","year":2025,"id":625695,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":280594,"name":"Amit Tirosh","orcid":"0000-0003-3794-9634","position":1,"is_corresponding":false},{"id":1618296,"name":"Reut Halperin","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Progress report on multiple endocrine neoplasia type 1","abstract":"<jats:title>Abstract</jats:title>\n          <jats:p>Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the <jats:italic>MEN1</jats:italic> tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN. Management of PHPT differs from that of patients with sporadic disease, as the surgical approach in MEN1-related PHPT includes near-total or total parathyroidectomy because of multigland hyperplasia in most patients and the consequent high risk of recurrence. NEN management also differs from patients with sporadic disease due to multiple synchronous and metasynchronous neoplasms. In addition, the lifelong risk of developing NEN requires special considerations to avoid excessive surgeries and to minimize damage to the patient’s function and well-being. This progress report will outline current insights into surveillance and management of the major clinical manifestation of MEN1 syndrome in children and adults with MEN1 diagnosis. In addition, we will discuss MEN1-like clinical presentation with negative <jats:italic>MEN1</jats:italic>-genetic workup and future clinical and research directions.</jats:p>","is_dataset_classified":null,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"39826015","pmcid":"PMC11742904","openalex_id":"https://openalex.org/W4406578837","authors":[],"funders":[{"funder_name":"Tel Aviv University","grant_id":"","title":null}],"total_grants":1,"fwci":2.9933,"citation_percentile":0.90096131,"influential_citations":0,"citation_trend":[{"year":2025,"count":2},{"year":2026,"count":2}],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://link.springer.com/content/pdf/10.1007/s10689-025-00440-4.pdf","host_type":"journal"},{"url":"https://link.springer.com/content/pdf/10.1007/s10689-025-00440-4.pdf","host_type":"publisher"},{"url":"https://link.springer.com/article/10.1007/s10689-025-00440-4/fulltext.html","host_type":"publisher"},{"url":"https://doi.org/10.1007/s10689-025-00440-4","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/39826015","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11742904","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11742904/pdf/10689_2025_Article_440.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11742904","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11742904?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Neuroendocrine Tumor Research Advances","Pancreatic and Hepatic Oncology Research","Neuroblastoma Research and Treatments"],"mesh_terms":["Adult","Child","Humans","Pancreatic Neoplasms","Pituitary Neoplasms","Proto-Oncogene Proteins","Parathyroidectomy","Neuroendocrine Tumors","Multiple Endocrine Neoplasia Type 1","Hyperparathyroidism, Primary"],"keywords":["MEN1","Multiple endocrine neoplasia","Medicine","Primary hyperparathyroidism","Penetrance","Hyperparathyroidism","Disease","Gastrinoma","Internal medicine","Oncology","Endocrine system","Gastroenterology","Pathology","Biology","Genetics","Men","pituitary","Neuroendocrine Tumors"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T07:33:08.121531Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}