Neoplasia endócrina múltipla (NEM) é um conjunto de condições de saúde raras, que são passadas de pais para filhos. Elas se caracterizam pelo aparecimento de dois ou mais tumores nas glândulas endócrinas e, às vezes, também podem surgir tumores em outros tecidos ou órgãos do corpo.
Introdução
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Neoplasia endócrina múltipla (NEM) é um conjunto de condições de saúde raras, que são passadas de pais para filhos. Elas se caracterizam pelo aparecimento de dois ou mais tumores nas glândulas endócrinas e, às vezes, também podem surgir tumores em outros tecidos ou órgãos do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 63 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 158 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates
Nucleus
Familial multiple endocrine neoplasia type I
Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.
Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1281417, PubMed:15488758, PubMed:17196528, PubMed:1849459, PubMed:1850821, PubMed:22649032, PubMed:27445338, PubMed:8325889). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axon
Cell membraneEarly endosome membraneLate endosome membraneRecycling endosome membrane
Congenital insensitivity to pain with anhidrosis
Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.
Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560) Lacks ligand binding ability and has no or only very low ERE binding activity resulting in the loss of ligand-dependent transactivation ability
Nucleus
Ovarian dysgenesis 8
An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest
Cytoplasm
Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN, PSPN and GDF15) (PubMed:20064382, PubMed:20616503, PubMed:20702524, PubMed:21357690, PubMed:21454698, PubMed:24560924, PubMed:28846097, PubMed:28846099, PubMed:28953886, PubMed:31118272). In contrast to most receptor tyrosine kinases, RET requires not onl
Cell membraneEndosome membrane
Hirschsprung disease 1
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its ph
NucleusCytoplasmEndosome
Multiple endocrine neoplasia 4
Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2.
Variantes genéticas (ClinVar)
1,152 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 6,680 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
46 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neoplasia endócrina múltipla
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
217 ensaios clínicos encontrados, 10 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.946
Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care. Literature was systematically searched for articles on psychosocial outcomes in patients with multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL), and pathogenic variants (PVs) in succinate dehydrogenase (SDHx) genes via PubMed, PsychInfo, and Embase. Study quality was assessed using the CASP and STROBE appraisal tools. In total, 36 studies were found with fluctuating levels of evidence, of which five included pediatric patients. Overall, studies showed a considerable impact of ETSs on psychosocial outcomes such as quality of life (QoL), anxiety, and depression. Maladaptive coping, as well as social and financial restraints, were associated with poorer psychosocial outcomes. Surveillance protocols had ambivalent effects, both creating a sense of control and serving as a constant reminder of having an ETS. Parathyroid disease was associated with adverse psychosocial effects in MEN1. In MEN2A, gastrointestinal symptoms and having affected offspring were associated with poorer psychosocial outcomes. In MEN2B, pain was reported to interfere with daily life. Studies regarding VHL reported a wide range of experiences in patients and family members. Only a few studies were found for patients with PVs in SDHx genes, mainly describing effects due to the manifestation of disease or paraganglioma. Psychosocial outcomes and possible underlying factors seem different for each ETS. More research is needed to address psychosocial outcomes in children with an ETS.
18F-Choline PET/CT Localization in a 20-Year Experience of Re-Operative Parathyroidectomy.
Reoperative parathyroidectomy is necessary in up to 10% of patients with persistent or recurrent primary hyperparathyroidism. Accurate preoperative localization is critical for surgical success and minimizing complications. Conventional imaging methods often yield inconclusive or false-negative results in this challenging patient population. To evaluate the diagnostic accuracy and clinical utility of 18F-fluorocholine positron emission tomography/computed tomography imaging compared to traditional imaging modalities of neck ultrasonography and 99mTechnetium-sestamibi parathyroid scintigraphy in patients undergoing reoperative parathyroidectomy. Retrospective cohort study of patients undergoing reoperative parathyroidectomy over a 20-year period (2005-2025). Localization imaging modalities, operative approaches, intraoperative parathyroid hormone monitoring, and surgical outcomes were analyzed. Single tertiary referral center specializing in endocrine surgery with a high-volume parathyroidectomy practice. 114 consecutive adult patients (aged ≥ 18 years) were included who underwent 124 reoperative parathyroidectomy operations for biochemically confirmed persistent or recurrent primary hyperparathyroidism. Patients were included if there was lithium-associated hyperparathyroidism or multiple endocrine neoplasia type 1 syndrome. Primary outcome included localization detection rates of imaging modalities performed. Secondary outcomes included type of surgical approach utilized, cause of failure from the primary operation, intraoperative parathyroid hormone monitoring response, biochemical cure rate, and surgical complications. 18F-fluorocholine positron emission tomography/computed tomography demonstrated a detection rate of 95.2%, outperforming 11C-methionine positron emission tomography/computed tomography (63.6%), fludeoxyglucose-positron emission tomography/computed tomography (50.0%), and neck ultrasonography (21.6%). In 90.5% of cases with negative or inconclusive conventional imaging, 18F-fluorocholine positron emission tomography/computed tomography accurately localized pathological parathyroid gland(s). A focused surgical approach (sternotomy or unilateral cervicotomy) was feasible in 87.1% of patients. Appropriate intraoperative parathyroid hormone monitoring decline was associated with a 95.8% biochemical cure rate. Complication rates were low, with vocal cord palsy in 0.8% and long-term hypoparathyroidism requiring calcium supplementation in 2.4%. 18F-fluorocholine positron emission tomography/computed tomography offers superior localization accuracy and a favorable radiation profile compared to conventional imaging options, supporting its use as a first-line modality in reoperative parathyroidectomy. Its application enables focused surgical interventions with high cure rates and low morbidity.
How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
The discovery of RET as the primary driver of hereditary medullary thyroid cancer in multiple endocrine neoplasia syndrome drastically changed the diagnosis, management, and prognosis of patients with this rare endocrine tumor. First, from a diagnostic viewpoint, RET testing within families became possible, ruling out unnecessary follow-up for negative patients and proposing an adapted surveillance protocol for positive patients. Second, large-scale epidemiological studies paved the way for early "prophylactic" thyroidectomy, rendering a historically fatal disease curable. RET identification also allowed for proper screening of pheochromocytoma and primary hyperparathyroidism. Lastly, RET identification enabled the synthesis of new, highly effective, and well-tolerated specific inhibitors, which changed the outcome for patients with metastatic disease. The RET discovery is thus a perfect example of how gene discovery can transform the fate of a rare syndrome, and this is what will be described in this short review.
Surgical Management of Zollinger-Ellison Syndrome in Multiple Endocrine Neoplasia Type 1 an AFCE and GTE Cohort Study. (Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines).
To describe surgical indications, procedures and outcomes in patients operated for Zollinger-Ellison syndrome (ZES) in multiple endocrine neoplasia type 1 (MEN1) using a large nationwide cohort. Management of ZES in MEN1 remains controversial. All patients with ZES diagnosed through the MEN1 AFCE/GTE network from 1985 to 2015. Among 233 ZES patients, 66 (28%) were operated for ZES-related gastrinomas. Thirty-three (51%) procedures aimed to remove gastrinomas and associated pancreatic neuroendocrine tumors (pNET(s)) with appropriate resection. Thirty-two procedures (49%) aimed to remove gastrinomas alone (ZES group). Survival was decreased in patients metastatic at ZES diagnosis (p < 0.001). Fifteen-year survival among non-metastatic patients was not significantly better in operated patients (82% vs. 70%, p = 0.2). Perioperative mortality was nil. Metastatic lymph nodes were found in 30/42 lymphadenectomies (71%). The choice between pancreaticoduodenectomy versus duodenal focused surgery in the ZES group was associated with pre-operative detection of adenopathies (p > 0.001), leading to more frequent lymphadenectomies (p < 0.01). Previous pancreatic surgeries (30%) may have influenced the choice of ZES procedures. Gastrin levels were more frequently normalized when the duodenum and the head of pancreas were removed versus more localized duodenal surgeries (p < 0.01). The high rate of invaded nodes in lymphadenectomies in MEN1 patients operated for ZES, the absence of operative mortality, and the decreased survival in metastatic patients are indirect arguments for surgery. Pancreaticoduodenectomy may be indicated in young and fit individuals to better control hypergastrinemia and to prevent metastatic progression in the ZES group. Gastrinoma removal is justified when associated with large pNETs.
Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
The incidence of metastatic recurrence in multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytoma is low, and reports are scarce. Moreover, there are no reports detailing changes in biochemical findings at the time of metastatic recurrence. We describe here the case of a woman in her 40s with MEN2-related pheochromocytoma. She exhibited an increase in spot urine normetanephrine levels 2 years and 8 months after laparoscopic right adrenalectomy for right pheochromocytoma, leading to the diagnosis of peritoneal dissemination and distant metastasis. She underwent chemotherapy, which was ineffective, and died 3 years and 2 months after the initial surgery. Metastasis and recurrence of MEN2-related pheochromocytoma are rare, and a change in the biochemical phenotype is also uncommon. Therefore, we report the clinical course of this case in detail.
Publicações recentes
Associations of selected atypical non-neuroendocrine cancers with multiple endocrine neoplasia type 1.
Extracellular signalling regulates gastrin transcription through site-specific phosphorylation and nuclear redistribution of Menin.
Gastric neuroendocrine tumors: a comprehensive analysis of clinicopathological characteristics and survival outcomes from a reference center.
Genetics of Familial Acromegaly and Pituitary Gigantism.
The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
📚 EuropePMC2.789 artigos no totalmostrando 198
18F-Choline PET/CT Localization in a 20-Year Experience of Re-Operative Parathyroidectomy.
World journal of surgeryHow has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
Annales d'endocrinologieSurgical Management of Zollinger-Ellison Syndrome in Multiple Endocrine Neoplasia Type 1 an AFCE and GTE Cohort Study. (Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines).
World journal of surgeryRET Lys666Asn has a low rate of MEN2-related tumors but may be associated with pheochromocytoma.
Hormones (Athens, Greece)Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
JCEM case reports[Multiple endocrine neoplasia syndrome type 1: analysis of data from 102 patients from 43 families in the population of the Russian Federation].
Problemy endokrinologiiChallenges and unmet needs of [18F]fluorocholine PET in hyperparathyroidism: A framework for refining current practice and advancing parathyroid imaging.
European journal of nuclear medicine and molecular imagingSystematic structure-based analysis of RET variants in MEN2A, Hirschsprung's disease, and their paradoxical co-occurrence.
Disease models & mechanismsBilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.
Translational andrology and urologyIn-depth Genetic and Molecular Characterization of Unilateral Coexisting Adrenal Cortical Adenoma and Carcinoma in the Context of MEN1 Syndrome.
Endocrine pathologyHealth-Related Quality of Life in Children with Multiple Endocrine Neoplasia (MEN) and their Siblings.
The Journal of clinical endocrinology and metabolismPituitary Apoplexy Following Gonadotropin-Releasing Hormone Agonist Administration for Prostate Cancer.
IJU case reportsMultiple endocrine neoplasia with an atypical clinical course and a MEN1 gene variant of uncertain pathogenicity: A case report.
MedicineCorrigendum to: "Health-related quality of life of Multiple Endocrine Neoplasia type 1 patients: A mixed methods systematic review" [Eur J Cancer, Vol. 227, 9 September 2025, 115671].
European journal of cancer (Oxford, England : 1990)Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.
Diagnostics (Basel, Switzerland)Redefining Pituitary Neuroendocrine Tumors in MEN1: Prevalence, Clinical Behavior, and Implications for Long-Term Surveillance.
Current oncology (Toronto, Ont.)Multiple endocrine neoplasia type 1 with MEN1 c.652C>T (p.Arg218Trp): variant reclassified to likely pathogenic.
JCEM case reportsTwo novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report.
Hereditary cancer in clinical practiceRare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.
Frontiers in endocrinologyVentricular fibrillation triggered by recurrent hypoglycemia in a patient with insulinoma associated with MEN1: case report and review of literature.
Endocrine journalIncretin Mimetics in Cancer and Cardiovascular Disease: JACC: CardioOncology State-of-the-Art Review.
JACC. CardioOncologyRank-based learning: a novel high-throughput algorithm resilient to missing data and effective for datasets with small sample size.
Briefings in bioinformaticsRare RET Variants in a Patient With MEN2A and Multiple Follicular-Derived Thyroid Tumors: A Case Report and Review of the Literature.
International journal of surgical pathologyCancer predisposition syndromes: an imaging review.
Cancer imaging : the official publication of the International Cancer Imaging SocietyThyroid collision tumor and Graves' disease: A case report and review of literature.
World journal of clinical casesRET germline mutations drive tumorigenesis but not tumor aggressiveness in MEN 2.
EndocrineCalcitonin Thresholds for Prediction of Medullary Thyroid Carcinoma and its Clinical Response in MEN2A Gene Carriers.
The Journal of clinical endocrinology and metabolismMultiple endocrine neoplasia type 5: emerging evidence and clinical perspectives.
Endocrine-related cancerPrecision imaging and evolving therapies in paragangliomas and pheochromocytomas: from molecular diagnostics to imaging-guided management.
Insights into imagingCase Report: Investigation and characterization of a multiple endocrine neoplasia type 1 case and its pedigree.
Frontiers in endocrinologyDistinct epigenetic aging in sporadic and hereditary neuroendocrine neoplasms.
Clinical epigeneticsLipid synthesis seems to drive proliferation in Men1 mouse adrenals and human adrenocortical cell lines.
Endocrine-related cancerSurgical and Oncologic Outcomes After Pancreatectomy for Pancreatic Neuroendocrine Tumor in Multiple Endocrine Neoplasia Type 1 and von Hippel-Lindau Syndrome: A Large, Multi-Institutional, Cohort Study.
Journal of the American College of SurgeonsInsulin Resistance Among Patients With Multiple Endocrine Neoplasia Type 1: A Systemic Review and Meta-Analysis.
AACE endocrinology and diabetesA Concurrent Finding of Pulmonary Sarcoidosis, Primary Hyperparathyroidism, Thyroid Nodules, and Adrenal Tumor in a Sexagenarian.
CureusPersistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
CureusEfficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
Therapeutic advances in endocrinology and metabolismAtypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India.
Endocrinology, diabetes & metabolism case reportsClinical Approach to Medullary Thyroid Carcinoma in Pregnancy: Experience and Review of the Literature.
JCEM case reportsMetformin suppresses MEN1-associated pancreatic and pituitary neuroendocrine tumors: evidence from mouse models and clinical data.
Endocrine-related cancerUtility of in Vivo Corneal Confocal Microscopy in Atypical MEN2B Findings. A Case Report.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiBlood-Based Immunoglobulin-Bound Neoantigen Signatures Associated with Multiple Endocrine Neoplasia Type 1-Related Duodenopancreatic Neuroendocrine Tumor Progression.
Journal of the American College of SurgeonsA Rare Case of Coexisting Medullary and Papillary Thyroid Carcinomas With Parathyroid Adenoma in Pancreatic Neuroendocrine Tumour (pNET).
CureusCardiac Tamponade As the Initial Presentation of a Thymic Neuroendocrine Tumour: A Case Report.
CJC openMultiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.
Cureus[Endocrinology : what's new in 2025].
Revue medicale suisseHistological evidence of familial GH-PitNET associated with germline MAX mutation.
European journal of endocrinologyLong-term calcitonin after thyroidectomy for medullary thyroid cancer in MEN2A.
Endocrine-related cancerRadiological Surveillance for Pituitary Adenomas in Multiple Endocrine Neoplasia Type 1: A Longitudinal Cohort Study.
The Journal of clinical endocrinology and metabolismPsychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
Pediatric blood & cancerLate-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
CureusConcept of neuroendocrine neoplasms of all organs with a focus on grading, subtyping.
Virchows Archiv : an international journal of pathologyUltrasound and Scintigraphy for Preoperative Localization in Primary Hyperparathyroidism: A Single-Center Experience.
CureusMultiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsRET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
GenesNon-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Reports (MDPI)Multiple endocrine neoplasia type 1 syndrome due to novel Alu insertion.
Cancer geneticsRedefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
Endocrine-related cancerCharacteristics and outcomes of cubital tunnel decompression in diabetic patients receiving glucagon-like peptide-1 receptor agonists.
Clinics in shoulder and elbow[Integration of Molecular, Genetic, and Surgical Evidence Into the Indication Criteria for Preventive Thyroid Surgery].
Zentralblatt fur ChirurgieFrom misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
PituitaryNew directions in MEN1 management: navigating the new clinical practice guidelines.
European journal of endocrinology[Ganglioneuroma of the Small Intestine Mimicking Crohn's Disease].
Acta gastroenterologica Latinoamericana[The 514th case: urinary stone excretion, elevated blood glucose, pancreatic mass,and co-secretion of multiple hormones].
Zhonghua nei ke za zhiDelay in Diagnosis of Thyroid-Stimulating Hormone-Secreting Pituitary Adenomas: Clinical and Endocrinological Profiles from a Retrospective Cohort Study.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeCase Report: Novel likely pathogenic MEN1 mosaic mutation in the family with MEN-1 syndrome.
Frontiers in endocrinologyVariable GLP-1 receptor expression across diverse neuroendocrine neoplasms: implications for incretin therapies.
Endocrine oncology (Bristol, England)Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.
Frontiers in endocrinologyColonic Ganglioneuroma-A Rare Finding During Colonoscopy.
Diagnostics (Basel, Switzerland)The clinical challenge of MEN1 phenocopies: insights from a multicentric national retrospective study.
Journal of endocrinological investigationRole of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience.
Journal of endocrinological investigationLoss of heterozygosity and absence of MAX immunostaining in a prolactinoma associated with multiple endocrine neoplasia type 5 (MEN5).
PituitaryPopulation-Based Evidence of Familial Clustering in Pulmonary Carcinoid Tumors: Insights From the Utah Population Database.
CureusPhenotypic characterization of a new case of multiple endocrine neoplasia type 4 associated with de novo germline and somatic CDKN1B pathogenic variants.
Annales d'endocrinologieA Case of Pediatric Pancreatic Insulinoma Diagnosed 4 Years after the Onset.
Surgical case reportsPerioperative Care of a Patient With Carney Complex.
Cardiology researchDermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
International journal of dermatologyUnusual Dual Brain Tumor Morphologies in an MEN1 Patient: A Case Report of Diagnostic Challenges and Methylation Insights.
International journal of molecular sciencesBilateral and recurrent adrenocortical carcinoma in MEN1: a case report and review of the literature.
Endocrine oncology (Bristol, England)Untying the Next Genetic Thread in a Family With MEN2A Syndrome: A Case Report.
Clinical case reportsLaparoscopy-assisted total colectomy for progressive megacolon due to intestinal ganglioneuromatosis in a young adult with multiple endocrine neoplasia type 2B: a case report.
International journal of surgery case reportsA 14-yr-old boy with a pathogenic MEN1 variant was diagnosed with asymptomatic insulinoma during routine follow-up.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyCLINICAL EVALUATION, DIAGNOSIS AND TREATMENT OF PHEOCHROMOCYTOMA.
Acta clinica CroaticaMedullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.
Endocrine journalAdvances in the clinical management of parathyroid disorders: report from the 2024 workshop by the ESE educational program on parathyroid disorders.
European journal of endocrinologyMEN1-Related Neuroendocrine Tumors Show c-MET Overexpression.
Journal of the Endocrine SocietyOutcomes of 68Ga-NODAGA-Exendin-4 PET/CT Guided Surgical Management of Insulinomas in MEN1: A Preliminary Study.
Nuklearmedizin. Nuclear medicineTargeting menin in lysine methyltransferase 2A/nucleophosmin-mutated leukemia: A novel strategy from epigenetic dysregulation to clinical therapy (Review).
Oncology letters68Ga-DOTA-TATE PET/CT improves accuracy and guides management in multiple endocrine neoplasia type 1 (MEN-1) patients with suspected duodeno-pancreatic neuroendocrine tumours.
Endocrine oncology (Bristol, England)Pheochromocytoma manifested as a surgical emergency.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyGenotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
PloS oneRisk Factors for Pituitary Adenoma Development in Multiple Endocrine Neoplasia Type 1: A Nationwide Study of 240 Cases.
The Journal of clinical endocrinology and metabolismFamilial Carney complex with embolic ischemic stroke: a case report and literature review.
Frontiers in oncologyDo Prognostic Differences Exist Among High-Risk RET Mutations? A Comparison of Outcomes Between the RET C634R and Other C634 Mutations in Hereditary Medullary Thyroid Carcinoma.
Thyroid : official journal of the American Thyroid AssociationExtent of Surgical Resection and Predictors of Outcomes in MEN1-related Hyperparathyroidism: A Systematic Review and Meta-analysis.
The Journal of clinical endocrinology and metabolismMulti-molecular imaging showing tumour heterogeneity and differing diagnostic performance in a case with metastatic pheochromocytoma.
EJNMMI reportsApproach to the Patient With Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1.
The Journal of clinical endocrinology and metabolismGastrointestinal surveillance in patients with multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome.
Scandinavian journal of gastroenterologyGiant Pheochromocytoma With Non-classical Symptoms: A Case Report to Expand Clinical Awareness.
CureusMultifocality and bilaterality in medullary thyroid cancer: basis for a proof-of-concept safety of lobectomy.
European thyroid journalHealth-related quality of life of Multiple Endocrine Neoplasia Type 1 patients: A mixed methods systematic review.
European journal of cancer (Oxford, England : 1990)Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.
Journal of clinical medicineMedullary thyroid cancer arising from a thyroid rest: a case report.
Journal of surgical case reportsThyroid Storm in the Shadows of Multiple Endocrine Neoplasia (Men) 2A: A Case of Overlapping Endocrine Emergencies.
European journal of case reports in internal medicineA Case of Micro-medullary Thyroid Carcinoma Presenting as Cancer of Unknown Primary.
CureusIntegrated 18F-FCH PET/4D-CT in a Case of Supernumerary Parathyroid Glandular Hyperplasia With Incidentally Detected Thymic NET.
Clinical nuclear medicineA Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.
Medicina (Kaunas, Lithuania)Inhibitory Effects of Vandetanib on Catecholamine Synthesis in Rat Pheochromocytoma PC12 Cells.
International journal of molecular sciencesGeospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.
EndocrineWhen Diarrhea Tells a Deeper Story: A Curious Case of Metastatic Medullary Thyroid Carcinoma.
CureusMultiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.
World journal of surgical oncologyA Long-Term Follow-Up of 2 Cases of Subclinical Acromegaly.
AACE endocrinology and diabetesRET Y791F in MEN2: a variant presumed non-pathogenic, yet lacking conclusive evidence of insignificance.
Gland surgeryNovel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literature.
Endocrine journalPrimary Hyperparathyroidism: A Case Series, Patient-Centered Approach to Diagnosis and Management Review.
Annali italiani di chirurgiaLaryngeal Multiple Mucosal Neuromas: A Diagnostic Challenge.
Journal of voice : official journal of the Voice FoundationRET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.
CureusThe role of thymectomy during parathyroidectomy in multiple endocrine neoplasia type 1-associated hyperparathyroidism: a systematic review and meta-analysis.
World journal of surgical oncologyASO Author Reflections: Patient Selection and Technique for Robotic Spleen-Preserving Distal Pancreatectomy.
Annals of surgical oncologyCyclic Cushing syndrome associated with cadherin-23 and multiple endocrine neoplasia type 1 gene mutations accompanied by bilateral primary papillary thyroid carcinoma.
Polish archives of internal medicineA Case of Advanced Renal Cell Carcinoma With Concomitant Development of Multiple Endocrine Neoplasia Type 1 That Affected Treatment Progress With Immunotherapy.
IJU case reportsEpidemiology and clinical outcomes of clinically suspected multiple endocrine neoplasia type 1 in South Korea: a nationwide cohort study.
Frontiers in endocrinologyNeuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.
Frontiers in endocrinologyFrom prominent corneal nerves to multiple endocrine neoplasia type 2B.
The lancet. Diabetes & endocrinology68 Ga-DOTATATE PET/CT-Guided Surgical Resection for Complete Remission of Multifocal Insulinomas in a Father and Son With MEN1 Syndrome.
Clinical nuclear medicineCirculating Gene Expression Assay as a Diagnostic and Prognostic Biomarker for Pancreatic Neuroendocrine Tumors in MEN1.
The Journal of clinical endocrinology and metabolismContribution of Germline Predisposition to Pediatric Thyroid Cancer.
Clinical cancer research : an official journal of the American Association for Cancer ResearchMedullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.
JAMA network openUpdated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.
Clinical cancer research : an official journal of the American Association for Cancer ResearchPituitary incidentaloma: a Pituitary Society international consensus guideline statement.
Nature reviews. EndocrinologyFour decades of the RET gene: From discovery to tumor-agnostic therapy.
Journal of the Formosan Medical Association = Taiwan yi zhiRobotic Spleen-Preserving Distal Pancreatectomy for Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1.
Annals of surgical oncologySporadic Coexistence of Parathyroid Adenoma, Papillary Thyroid Carcinoma, Pheochromocytoma, and Cardiac Myxoma: A Multidisciplinary Approach to an Extremely Rare Tumor Constellation.
CureusMultiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice.
The lancet. Diabetes & endocrinologyTreatments for MEN1-associated endocrine tumours: three systematic reviews and a meta-analysis.
The lancet. Diabetes & endocrinology68 Ga-Exendin-4 PET/CT Enables Identification of Multiple and Ectopic Insulinoma in a Patient With Multiple Endocrine Neoplasia 1.
Clinical nuclear medicineSerums miR-24-3p and miR-1301-3p as Potential Biomarkers in MEN1 Syndrome.
International journal of molecular sciencesLast decade of advances in gastric neuroendocrine tumors: Innovations, challenges, and future directions.
World journal of clinical oncologyImportance of understanding a diagnostic-treatment algorithm for primary hyperparathyroidism-induced acute pancreatitis during pregnancy.
World journal of gastroenterologyPancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1.
DEN openMultiple endocrine neoplasia type 2A: a diagnostic challenge case report.
Annals of medicine and surgery (2012)Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.
Endocrinology, diabetes & metabolism case reportsSuccessful treatment of metachronous insulinoma in a patient with multiple endocrine neoplasia type 1 syndrome.
Polish archives of internal medicinePartial adrenalectomy for pheochromocytoma in the multiple endocrine neoplasia type 2 population: Time to reconsider?
SurgeryChromogranin a and pancreatic polypeptide are not suitable for the screening of pancreatic neuroendocrine tumors in MEN1 - a long-term follow-up study.
EndocrineA Pituitary Macroadenoma Cosecreting Prolactin and Growth Hormone in a Patient With Multiple Endocrine Neoplasia Type 4.
JCEM case reportsA neural substrate of comorbid depressive symptoms in alcohol use.
Molecular psychiatryCase Report: A novel likely pathogenetic variant of the MEN1 gene in multiple endocrine neoplasia type 1.
Frontiers in endocrinologyBilateral Pheochromocytoma with a Novel Pathogenic Variant in the MAX gene: A Case Report.
Journal of the ASEAN Federation of Endocrine Societies[Clinical polymorphism of primary hyperparathyroidism in children].
Problemy endokrinologiiRecurrence of malignant insulinoma in the context of multiple endocrine neoplasia type 1: a case report.
Journal of surgical case reportsSafety and Efficacy of Peptide Receptor Radionuclide Therapy in Multiple Endocrine Neoplasia Syndrome: A Single-center Experience.
Clinical nuclear medicineClinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.
Annales d'endocrinologieBeyond Hypertension: Hypoglycemia as an Atypical Presentation of Pheochromocytoma in Neurofibromatosis Type 1.
CureusAn Updated Perspective of the Clinical Features and Parathyroidectomy Impact in Primary Hyperparathyroidism Amid Multiple Endocrine Neoplasia Type 1 (MEN1): Focus on Bone Health.
Journal of clinical medicineMultimodal Imaging Approach to MEN-1 Syndrome-Associated Tumors.
Diagnostics (Basel, Switzerland)Multicentric B-cell lymphoma, phaeochromocytoma and amyloid-rich thyroid carcinoma in a common warthog (Phacochoerus africanus): a case of multiple endocrine neoplasia type 2?
Journal of comparative pathologyBenefit of splenectomy in distal pancreatectomy for neuroendocrine tumours: multicentre retrospective study.
BJS openOncocytic subtype of well differentiated neuroendocrine tumor: clinicopathologic and molecular associations of a cohort diagnosed on fine needle aspiration (FNA).
Journal of the American Society of CytopathologyMEN2: surgical precision in the era of precision medicine.
Endocrine-related cancerMolecular Characterization and Clinical Outcomes of Pancreatic Neuroendocrine Neoplasms Harboring PAK4-NAMPT Alterations.
JCO oncology advancesCharacterization, Prognosis, and Treatment of Patients With Locally Advanced or Metastatic Thymic Neuroendocrine Tumor: A Retrospective Study of the French GTE, ENDOCAN RENATEN, and RYTHMIC Networks.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung CancerA Case Series Study of Solitary Mucosal Neuroma-Rare Cases of Benign Peripheral Neurogenic Tumours.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)Kinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer.
NPJ precision oncologyRobotic Approach to Surgery for Pheochromocytoma in Children: A Case Series.
Journal of endourologyPredictors of Mortality in Patients With Multiple Endocrine Neoplasia Type 1.
Clinical endocrinologyAn Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.
Diseases (Basel, Switzerland)Heterozygous Men1(+/T) Knockout Mice Do Not Develop Bronchopulmonary Neuroendocrine Hyperplasia or Neoplasia but Bronchial Adenocarcinoma.
Advances in respiratory medicineHighlights from the AACE Consensus Statement on Multiple Endocrine Neoplasia Type 1: A Patient's Perspective.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsImportance of early detection in multiple endocrine neoplasia type 1: Clinical insights and future directions.
World journal of gastrointestinal oncologyAmerican Association of Clinical Endocrinology Consensus Statement on Management of Multiple Endocrine Neoplasia Type 1.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsForearm Auto-Transplantation of Adenomatous Parathyroid Tissue to Prevent Post-Surgical Hypoparathyroidism: A Case Report.
West African journal of medicinePopulation Prevalence of the Major Thyroid Cancer-Associated Syndromes.
The Journal of clinical endocrinology and metabolismInsulinoma: A Novel Presentation of Multiple Endocrine Neoplasia 4.
AACE clinical case reportsA Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors.
AACE clinical case reportsSignificance of ectopic intrathyroidal thymic tissue detected on ultrasound in different paediatric age groups: a proposed classification to guide investigation and management.
European journal of pediatricsPrimary Hyperparathyroidism: Clinical, Biochemical, and Radio-Pathological Profiles of 804 Patients - A Retrospective Study from South India.
Indian journal of endocrinology and metabolismp.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease.
Endocrine journalPrognostic value of clinical parameters and exosomal lncRNA NEAT1_1 in MEN1-related non-functioning pancreatic neuroendocrine tumors.
Journal of neuroendocrinologyPrimary hyperparathyroidism during pregnancy: ultrasound as an accurate preoperative localization imaging modality.
Orphanet journal of rare diseasesManagement and Long-Term Monitoring of a Young Patient with Pheochromocytoma and RET Mutation: A Case Report.
International medical case reports journal[Microwave ablation for primary hyperparathyroidism related to multiple endocrine neoplasia type 1 in 3 cases of a family].
Zhonghua nei ke za zhiPancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.
Seminars in cancer biologyBone Mineral Density Changes in Multiple Endocrine Neoplasia Type 1: A Systematic Review and Meta-Analysis of Prevalence and Parathyroidectomy Outcomes.
The archives of bone and joint surgeryWeight Reduction with GLP-1 Agonists and Paths for Discontinuation While Maintaining Weight Loss.
BiomoleculesMultiple Endocrine Neoplasia Type 1 (MEN1) Syndrome Clinical Presentation and the Role of Newer Functional Imaging in the Diagnosis and Management: A Case Report.
CureusGenomic testing for RET in the clinic: UK and global perspective.
Endocrine-related cancerMultiple endocrine neoplasia type 1 in childhood and description of a novel variant.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloPrevalence and genetics of "de novo" MEN2 syndromes.
The Journal of clinical endocrinology and metabolismPure mucosal neuroma syndrome, not MEN2B.
BMJ case reportsA Five-Year Journey to Diagnosis: Resolving Persistent Hypoglycemia Through Successful Insulinoma Resection-A Case Report.
Clinical case reportsChallenging Perioperative Management of a MEN2A Syndrome Patient Complicated by Eisenmenger Syndrome.
Turkish journal of anaesthesiology and reanimationA Novel Multiple Endocrine Neoplasia Type 1 Gene Variant Found in Scalp Pulmonary Neuroendocrine Tumor Metastasis.
JCEM case reportsPost-surgical natural history of MEN2A with RET C634R mutation and bilateral cervical node metastasis: a case report.
Annals of medicine and surgery (2012)Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.
The Journal of clinical endocrinology and metabolismLong-Term Follow-Up in Medullary Thyroid Carcinoma Patients.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerPrimary Hyperparathyroidism in MEN2 Syndromes.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerPheochromocytoma in MEN2.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
- 18F-Choline PET/CT Localization in a 20-Year Experience of Re-Operative Parathyroidectomy.
- How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
- Surgical Management of Zollinger-Ellison Syndrome in Multiple Endocrine Neoplasia Type 1 an AFCE and GTE Cohort Study. (Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines).
- Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
- Associations of selected atypical non-neuroendocrine cancers with multiple endocrine neoplasia type 1.
- Extracellular signalling regulates gastrin transcription through site-specific phosphorylation and nuclear redistribution of Menin.
- Gastric neuroendocrine tumors: a comprehensive analysis of clinicopathological characteristics and survival outcomes from a reference center.
- Genetics of Familial Acromegaly and Pituitary Gigantism.
- The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:276161(Orphanet)
- MONDO:0017169(MONDO)
- GARD:21044(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1553018(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
