Uma doença genética hereditária dominante, causada por alterações genéticas específicas no gene RET, e que aumenta o risco de desenvolver câncer medular de tireoide de início muito precoce, feocromocitoma, hiperparatireoidismo e neuromas nas mucosas.
Introdução
O que você precisa saber de cara
Uma doença genética hereditária dominante, causada por alterações genéticas específicas no gene RET, e que aumenta o risco de desenvolver câncer medular de tireoide de início muito precoce, feocromocitoma, hiperparatireoidismo e neuromas nas mucosas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
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.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
534 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 418 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 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, tipo 2B
Selecione um estado ou use sua localização para ver resultados.
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
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
A 34-year-old male developed bilateral recurrent pheochromocytomas 10 years after laparoscopic adrenal-sparing surgery for pheochromocytomas. Based on his clinical manifestations and germline REarranged during Transfection (RET) variant, the patient was ultimately diagnosed with multiple endocrine neoplasia type 2B. Based on drug susceptibility testing results from organoid-guided precision therapy, the patient underwent secondary adrenalectomy for the right lesion and received oral pralsetinib to control the left ones. Over 16 months of pralsetinib therapy, we found that the patient achieved sustained therapeutic benefits, specifically characterized by symptomatic relief, significant reduction in hormone levels, and shrinkage of the left adrenal masses. These findings indicate that pralsetinib is effective and safe for treating pheochromocytomas associated with RET missense mutation, but further clinical practices are warranted to confirm its efficacy and safety profile.
Pure mucosal neuroma syndrome, not MEN2B.
The characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) include marfanoid body habitus, thickened corneal nerves and mucosal neuromas. Rarely, patients can present with pure phenotypic features of MEN2B but without the RET gene mutation or associated endocrine conditions such as medullary thyroid cancer and phaeochromocytoma. We describe a case of a mid-30s male who was referred by the local optician for assessment of conjunctival lesions. Ophthalmology assessment revealed prominent corneal nerves and conjunctival neuromas. Due to the known association with MEN2B, an urgent referral was made to our endocrinology department. He exhibited a marfanoid body habitus and tongue neuromas. Genetic testing did not reveal a pathogenic variant in the RET proto-oncogene. Exome sequencing revealed a heterozygous pathogenic son of sevenless-1 frameshift mutation, suggestive of pure mucosal neuroma syndrome (MNS). Pure MNS is distinct from MEN2B with a lack of association with other endocrinopathies; therefore, unnecessary prophylactic treatments such as thyroidectomy can be avoided.
From prominent corneal nerves to multiple endocrine neoplasia type 2B.
Utility of in Vivo Corneal Confocal Microscopy in Atypical MEN2B Findings. A Case Report.
To describe atypical biomicroscopical and histological changes in corneal and conjunctival structures in multiple endocrine neoplasia type 2 (MEN2b) and bring attention to common characteristics and atypical features. Retrospective case series. Two patients, female, and male, with previously confirmed MEN2B diagnosis were examined at our clinic to evaluate corneal and conjunctival pathologies using in vivo corneal confocal microscopy (IVCM). The female patient showed all hallmark signs of MEN2b features despite a recent unilateral herpetic infection. The male was examined at a very late stage of the disorder and showed only partial features of typical ocular MEN2b manifestations. Two notable deviations were observed: an opaque corneal mass of the right eye and absence of prominent corneal nerves in both eyes IVCM conjunctival neuroma scans correlated with scans of the corneal mass, ascertaining its histological nature. This case series is, to our knowledge, the first to describe the absence of prominent corneal nerves in MEN2b. It also highlights the utility of IVCM in superficial lesion analysis. Its non-invasive nature is of great benefit to the patient.
Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant disorder caused by RET proto-oncogene mutations, classically associated with medullary thyroid carcinoma (MTC), pheochromocytoma, and gastrointestinal ganglioneuromatosis. Gastrointestinal symptoms, including constipation and megacolon, typically present in infancy or childhood; late-onset presentation is rare. We report a 66-year-old woman with MEN2B, previously treated with total thyroidectomy for MTC and bilateral adrenalectomy for pheochromocytoma, who presented with absolute constipation, abdominal distension, nausea, and vomiting. Imaging demonstrated marked colonic dilatation without obstruction. She underwent emergency total colectomy with end ileostomy, and histopathology confirmed diffuse ganglioneuromatosis. This case represents one of the oldest reported presentations of megacolon in MEN2B and highlights the importance of recognising gastrointestinal features in all age groups to allow timely surgical intervention and optimise patient outcomes.
Publicações recentes
The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
Metastatic Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia Type 2B (MEN 2B) With RET M918T Mutation: Challenges in Long-Term Management and Targeted Therapy.
🥉 Relato de casoEfficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
📚 EuropePMC172 artigos no totalmostrando 168
Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
Therapeutic advances in endocrinology and metabolismUtility of in Vivo Corneal Confocal Microscopy in Atypical MEN2B Findings. A Case Report.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiLate-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
CureusNon-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Reports (MDPI)[Ganglioneuroma of the Small Intestine Mimicking Crohn's Disease].
Acta gastroenterologica LatinoamericanaColonic Ganglioneuroma-A Rare Finding During Colonoscopy.
Diagnostics (Basel, Switzerland)Laparoscopy-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 reportsFrom prominent corneal nerves to multiple endocrine neoplasia type 2B.
The lancet. Diabetes & endocrinologyA Case Series Study of Solitary Mucosal Neuroma-Rare Cases of Benign Peripheral Neurogenic Tumours.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)p.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 journalPure mucosal neuroma syndrome, not MEN2B.
BMJ case reportsHereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer3 in 1: Manifestations of Multiple Endocrine Neoplasia Type 2B on Imaging.
JCEM case reportsDissection of RET p.M918T-driven progression of hereditary vs. sporadic medullary thyroid cancer.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyEfficacy and Safety of Selective RET Inhibitors in Patients with Advanced Hereditary Medullary Thyroid Carcinoma.
Thyroid : official journal of the American Thyroid AssociationLiving with a RET gene mutation: patient perspectives.
Endocrine-related cancerMultiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.
AME case reportsLaryngeal Neuromas in a 5-Year-Old With MEN2B: A Case Report and Literature Review.
Ear, nose, & throat journalClues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.
PediatricsMultiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
Primary careGanglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) - case report.
Annals of agricultural and environmental medicine : AAEMGenotype-specific development of MEN 2 constituent components in 683 RET carriers.
Endocrine-related cancerMultiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.
Clinical journal of gastroenterologySpontaneous and Treatment-Related Changes of Serum Calcitonin in Medullary Thyroid Cancer: Long-Term Experience in a Patient With Multiple Endocrine Neoplasia Type 2B.
JCO precision oncologyA case report of multiple endocrine neoplasia type 2B.
Annals of medicine and surgery (2012)Laryngeal Ganglioneuromatosis in a Child With Multiple Endocrine Neoplasia Type 2B (MEN2B): Case Report and Review of Literature.
Cureus[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia].
Problemy endokrinologiiImpact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationMEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW.
Acta endocrinologica (Bucharest, Romania : 2005)Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.
International journal of pediatric otorhinolaryngologyWithdrawn: Successful treatment of mucosal neuromas by radiofrequency ablation in a patient with multiple endocrine neoplasia type 2B.
Skin health and diseaseTumor-to-Tumor Metastasis of Medullary Thyroid Carcinoma to Paraganglioma in a Multiple Endocrine Neoplasia Type 2B Patient: A Case Report and Literature Review.
The Tohoku journal of experimental medicineProminent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
BMC ophthalmologyConjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B.
American journal of ophthalmology case reportsSuccessful treatment of mucosal neuromas by radiofrequency ablation in a patient with multiple endocrine neoplasia type 2B.
Skin health and disease["Graded early warning system" of RET germline mutation carriers in MEN2A/MEN2B families and total thyroidectomy (report of 7 cases)].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryIsolated diffuse intestinal ganglioneuromatosis presented as a redundant sigmoid colon: a case report.
Annals of medicine and surgery (2012)Thyroid Paraganglioma With Medullary Carcinoma: A Unique Combination in a Patient in Association With Multiple Endocrine Neoplasia Type 2B Syndrome With Prolonged Survival.
CureusFrequency and impact of musculoskeletal symptoms on quality of life in MEN2B.
Clinical endocrinologyA Case Study of Multiple Endocrine Neoplasia Type 2A.
CureusFracture Risk in Pediatric Patients With MEN2B.
The Journal of clinical endocrinology and metabolism[Multiple, bilateral conjunctival tumors-A 27-year-old female patient with MEN2B].
Die OphthalmologieMEN2B Masquerading as Postural Orthostatic Tachycardia Syndrome.
JACC. Case reportsAmphicrine Medullary Thyroid Carcinoma - a Case-Based Review Expanding on Its MUC Expression Profile.
Endocrine pathologySimultaneous unilateral laparoscopic adrenalectomy for pheochromocytoma and thyroidectomy in MEN 2A and MEN 2B syndrome.
Endokrynologia PolskaHypocalcemia-Induced Reversible Psychosis.
CureusCharacterization of Human Medullary Thyroid Carcinoma Glycosphingolipids Identifies Potential Cancer Markers.
International journal of molecular sciencesExtra-endocrine phenotypes at infancy in multiple endocrine neoplasia type 2B: A case series of six Japanese patients.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology[Pediatric Multiple Endocrine Neoplasia Type 2B with Pheochromocytoma Diagnosed after Perforation of a Colonic Diverticulum : A Case Report].
Hinyokika kiyo. Acta urologica JaponicaCystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaA Most Unusual Polyposis.
GastroenterologyChildren with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions.
Clinical endocrinologyMultiple endocrine neoplasia type 2: A review.
Seminars in cancer biologyIsolated intestinal Ganglioneuromatosis: case report and literature review.
Italian journal of pediatricsDevelopment of colon cancer in a patient with longstanding colonic diffuse ganglioneuromatosis: a case report.
Clinical endoscopyLate diagnosis of metastatic pheochromocytoma in multiple endocrine neoplasia 2B with rapid clinical decline.
BMJ case reportsTimely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.
EndocrineMultiple endocrine neoplasia type 2B: A report of a rare case.
Journal of oral and maxillofacial pathology : JOMFPHereditary medullary thyroid carcinoma syndromes: experience from western India.
Familial cancerDiagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
Clinical endocrinologyMultiple endocrine neoplasia-IIb with RET gene mutation p.M918T: A case report.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesProphylactic neck surgery for second-generation multiple endocrine neoplasia type 2B.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyMEN2B syndrome - paediatric case report.
Pediatric endocrinology, diabetes, and metabolismImpact of gastrointestinal symptoms on quality of life in MEN2.
Clinical endocrinology[Surgical aspects of multiple endocrine neoplasia type 2].
Therapeutische Umschau. Revue therapeutiqueMolecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.
Endocrine, metabolic & immune disorders drug targetsSolitary circumscribed neuroma of the conjunctiva: Differential diagnosis from neurofibroma is a must?
Arquivos brasileiros de oftalmologiaAnterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b.
Ophthalmic geneticsMultiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation.
Endocrine, metabolic & immune disorders drug targetsSevere constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review.
BMC pediatricsA Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype.
Thyroid : official journal of the American Thyroid AssociationMultiple endocrine neoplasia type 2B syndrome.
QJM : monthly journal of the Association of PhysiciansPulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.
The Journal of clinical endocrinology and metabolismMEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.
EndocrineAnesthesia Management for Pediatric Patient With Multiple Endocrine Neoplasia Type 2B: A Case Report.
A&A practiceTerminal Ileum Thickening and Mucosal Ulcers in a Boy With Neurofibromatosis Type 1.
GastroenterologyA Peculiar Phenotype Hindering Early Diagnosis: Multiple Endocrine Neoplasia 2B Syndrome.
The American journal of medicinePoint mutagenesis in mouse reveals contrasting pathogenetic effects between MEN2B- and Hirschsprung disease-associated missense mutations of the RET gene.
Development, growth & differentiationMegacolon as the presenting feature of multiple endocrine neoplasia type 2B: a case report.
Hong Kong medical journal = Xianggang yi xue za zhiUpdate on Pheochromocytoma and Paraganglioma from the SSO Endocrine and Head and Neck Disease Site Working Group, Part 2 of 2: Perioperative Management and Outcomes of Pheochromocytoma and Paraganglioma.
Annals of surgical oncologyUpdate on Pheochromocytoma and Paraganglioma from the SSO Endocrine/Head and Neck Disease-Site Work Group. Part 1 of 2: Advances in Pathogenesis and Diagnosis of Pheochromocytoma and Paraganglioma.
Annals of surgical oncologyRevisiting the genotype-phenotype correlation in children with medullary thyroid carcinoma: A report from the GPOH-MET registry.
Pediatric blood & cancerProminent corneal nerves, conjunctival neuromas, and dry eye in a patient without MEN2B.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieMultiple endocrine neoplasia type 2B: Frequency of physical stigmata-Results of the GPOH-MET registry.
Pediatric blood & cancerIsolated Intestinal Ganglioneuroma Mimicking Small Bowel Crohn's Disease.
ACG case reports journalPeripheral nerve disease secondary to systemic conditions in children.
Therapeutic advances in neurological disordersCushing's Disease in a Patient with MEN 2B Syndrome.
The American journal of medicineIn Vivo Confocal Microscopy of Prominent Conjunctival and Corneal Nerves in Multiple Endocrine Neoplasia Type 2B.
CorneaClinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma.
Annales d'endocrinologie[Solitary ganglioneuroma of the oropharynx].
Arkhiv patologiiMEN 2B masquerading as chronic blepharitis and euryblepharon.
Orbit (Amsterdam, Netherlands)Careful investigation of a rare disease: insights into multiple endocrine neoplasia type 2B.
The lancet. Diabetes & endocrinologyNatural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
The lancet. Diabetes & endocrinologyConstipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka.
BMJ case reportsFifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases.
The Journal of clinical endocrinology and metabolismGenetic characterization of medullary thyroid cancer in childhood survivors of the Chernobyl accident.
SurgeryMultiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.
The Journal of pediatricsNeurofibroma discharged from the anus with stool: A case report and review of literature.
World journal of clinical casesAcute gastrointestinal bleeding, multiple GIST and intestinal ganglioneuromatosis in a patient with neurofibromatosis.
Cirugia espanolaVisual Diagnosis: Exophytic Lesions on Tongue and Oral Mucosa.
Pediatrics in reviewThe Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiPheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B.
The Journal of clinical endocrinology and metabolismBone and Calcified Soft Tissue Metastases of Medullary Thyroid Carcinoma Better Characterized on 18F-Fluoride PET/CT than on 68Ga-Dotatate PET/CT.
Nuclear medicine and molecular imagingA Girl with Delayed Puberty and Bumpy Lips.
The Journal of pediatricsMultiple Endocrine Neoplasia in Children and the Importance of Screening: Part 2.
Journal of pediatric nursingDemographic, Clinical and Histopathological Features of Oral Neural Neoplasms: A Retrospective Study.
Head and neck pathologyDrug resistance profiles of mutations in the RET kinase domain.
British journal of pharmacologyDiffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation.
Case reports in medicinePediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma.
Ocular oncology and pathologyMultiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsProphylactic thyroidectomy in children with multiple endocrine neoplasia type 2.
The British journal of surgeryProstate adenocarcinoma in a young patient with multiple endocrine neoplasia 2B.
Annales d'endocrinologiePregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B.
Clinical endocrinologyDiagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.
Ophthalmic geneticsLong-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium.
The Journal of clinical endocrinology and metabolismDermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.
JAMA dermatologyConstitutive Ret signaling leads to long-lasting expression of amphetamine-induced place conditioning via elevation of mesolimbic dopamine.
NeuropharmacologyVisual Diagnosis: An 11-year-old Girl with Swollen Lips and Oral Bumps.
Pediatrics in reviewGeneration of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation.
Stem cell researchArytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome.
Clinical dysmorphologyA comprehensive review on MEN2B.
Endocrine-related cancerMultiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Clinical cancer research : an official journal of the American Association for Cancer Research[Bilateral corneal nerve hypertrophy associated with glaucoma in a boy with multiple endocrine neoplasia type 2B].
Journal francais d'ophtalmologieIncidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study.
Endocrine-related cancerCushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.
Journal of clinical and translational endocrinology case reportsRisk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
The Journal of clinical endocrinology and metabolismMultiple Endocrine Neoplasia Type 2B Unmasked by 18 F-FDG PET/CT and 131 I-MIBG SPECT/CT.
Clinical nuclear medicineAn Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
Head and neck pathologyIn Vivo Confocal Microscopic Architecture of Corneal Nerves in a Case of Multiple Endocrine Neoplasia Type 2b.
Middle East African journal of ophthalmologyIdentification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.
Journal of pediatric surgeryDistribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
Thyroid : official journal of the American Thyroid AssociationM918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.
Endocrine-related cancer[Raised lesions on tongue].
Medicina clinicaComposite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report.
Asian journal of endoscopic surgeryIsolated ileal ganglioneuromatosis in an 11-year-old boy: Case report and review of literature.
Indian journal of pathology & microbiology[Genotype-phenotype correlations in multiple endocrine neoplasia type 2].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryCharacteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B.
United European gastroenterology journal[Metastatic medullary thyroid carcinoma in a child with multiple endocrine neoplasia 2B. Efficiency of medium-term treatment with vandetanib without thyroid surgery].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieA Girl With Marfanoid Habitus and Distinctive Orolabial Lesions.
JAMA dermatologyGermline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.
Annual review of genomics and human genetics[Nodular eyelid margin and lip tumors without MEN2b syndrome in a 29 year old man].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft[A case of multiple endocrine neoplasia type 2B].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyThe polypoid ganglioneuroma associated with hyperplastic polyposis.
The Korean journal of internal medicineSOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Clinical endocrinologySurgery for lymph node metastases of medullary thyroid carcinoma: A review.
CancerLaryngeal neuromas in a case of multiple endocrine neoplasia type 2B.
Ear, nose, & throat journalPrimary Hyperparathyroidism in MEN2 Syndromes.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerPheochromocytomas in Multiple Endocrine Neoplasia Type 2.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerHereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerMedullary Thyroid Carcinoma: Imaging.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerEpidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerMultiple palisaded encapsulated neuromas in siblings: A case report and review of the published work.
The Journal of dermatologyIntestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding.
BMJ case reportsThe development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.
Experimental and molecular pathologyTactile Corpuscle-like Bodies in Gastrointestinal-type Mucosa: A Case Series.
The American journal of surgical pathologyIMAGES IN CLINICAL MEDICINE. Multiple Mucosal Neuroma.
The New England journal of medicinePrimary RET-mutated lung neuroendocrine carcinoma in MEN2B: response to RET-targeted therapy.
Endocrine-related cancerScreening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives.
Familial cancerCutaneous hyperneury: a new entity or an atypical cutaneous manifestation of MEN 2B?
SkinmedExome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.
GastroenterologyA rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism.
BMC endocrine disordersAn unusual cause of hemoperitoneum: case report with review of literature.
International journal of surgery case reportsPatterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy.
International journal of pediatric endocrinology[Multiple endocrine neoplasia type 2B].
Nederlands tijdschrift voor geneeskunde[Lingual neuromas in childhood as clue for diagnosis of the MEN 2B syndrome].
Cirugia espanolaRevised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
Thyroid : official journal of the American Thyroid AssociationSynchronous diffuse ganglioneuromatosis and multiple schwannomas of the colon: A case report and literature review.
Experimental and therapeutic medicineDouble-balloon enteroscopy for the detection of diffuse small-bowel polypoid ganglioneuromatosis mimicking Crohn's disease in a patient with von Recklinghausen disease.
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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.
- Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
- Pure mucosal neuroma syndrome, not MEN2B.
- From prominent corneal nerves to multiple endocrine neoplasia type 2B.
- Utility of in Vivo Corneal Confocal Microscopy in Atypical MEN2B Findings. A Case Report.Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti· 2025· PMID 41563887mais citado
- Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
- The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
- Metastatic Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia Type 2B (MEN 2B) With RET M918T Mutation: Challenges in Long-Term Management and Targeted Therapy.
- Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:247709(Orphanet)
- OMIM OMIM:162300(OMIM)
- MONDO:0008082(MONDO)
- GARD:10225(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q624748(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
