Raras
Buscar doenças, sintomas, genes...
Neoplasia endócrina múltipla, tipo 2B
ORPHA:247709CID-10 · D44.8CID-11 · 2F7A.0OMIM 162300DOENÇA RARA

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.

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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.

Pesquisas ativas
2 ensaios
5 total registrados no ClinicalTrials.gov
Publicações científicas
295 artigos
Último publicado: 2026 Apr 10

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D44.8
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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

🦴
Ossos e articulações
7 sintomas
🧠
Neurológico
4 sintomas
🫃
Digestivo
4 sintomas
😀
Face
3 sintomas
📏
Crescimento
3 sintomas
👁️
Olhos
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

Hipotonia
Calcitonina elevada
Constipação
Diarreia
Epifisiólise femoral proximal
Feocromocitoma
30sintomas
Sem dados (30)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.

HipotoniaHypotonia
Calcitonina elevadaElevated calcitonin
ConstipaçãoConstipation
DiarreiaDiarrhea
Epifisiólise femoral proximalProximal femoral epiphysiolysis

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico295PubMed
Últimos 10 anos170publicações
Pico201522 papers
Linha do tempo
2026Hoje · 2026🧪 2006Primeiro ensaio clínico📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

RETProto-oncogene tyrosine-protein kinase receptor RetDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneEndosome membrane

VIAS BIOLÓGICAS (4)
RET signalingFormation of the ureteric budFormation of the nephric ductNPAS4 regulates expression of target genes
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Substância negra
6.3 TPM
Pituitária
4.8 TPM
Cerebelo
4.0 TPM
Cólon sigmoide
4.0 TPM
Brain Frontal Cortex BA9
3.8 TPM
OUTRAS DOENÇAS (12)
multiple endocrine neoplasia type 2Bpheochromocytomafamilial medullary thyroid carcinomamultiple endocrine neoplasia type 2A
HGNC:9967UniProt:P07949

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Famotidine (FAMOTIDINE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

534 variantes patogênicas registradas no ClinVar.

🧬 RET: NM_020975.6(RET):c.2940-1G>A ()
🧬 RET: NM_020975.6(RET):c.206del (p.Gly69fs) ()
🧬 RET: NM_020975.6(RET):c.3039+1G>A ()
🧬 RET: NM_020975.6(RET):c.1658G>T (p.Arg553Met) ()
🧬 RET: NM_020975.6(RET):c.249C>A (p.Asn83Lys) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 418 variantes classificadas pelo ClinVar.

42
376
Patogênica (10.0%)
VUS (90.0%)
VARIANTES MAIS SIGNIFICATIVAS
RET: NM_020975.6(RET):c.2672C>T (p.Ser891Leu) [Likely pathogenic]
RET: NM_020975.6(RET):c.1880-12C>A [Conflicting classifications of pathogenicity]
RET: NM_020975.6(RET):c.3043T>A (p.Tyr1015Asn) [Uncertain significance]
RET: NM_020975.6(RET):c.2819T>C (p.Leu940Pro) [Uncertain significance]
RET: NM_020975.6(RET):c.2456G>T (p.Ser819Ile) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 22
1Fase 11
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

5 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
105 papers (10 anos)
#1

Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.

Therapeutic advances in endocrinology and metabolism2026

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.

#2

Pure mucosal neuroma syndrome, not MEN2B.

BMJ case reports2025 Mar 24

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.

#3

From prominent corneal nerves to multiple endocrine neoplasia type 2B.

The lancet. Diabetes &amp; endocrinology2025 Aug
#4

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 spolecnosti2025

 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.

#5

Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.

Cureus2025 Dec

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

Ver todas no PubMed

📚 EuropePMC172 artigos no totalmostrando 168

2026

Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.

Therapeutic advances in endocrinology and metabolism
2025

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

Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.

Cureus
2025

Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.

Reports (MDPI)
2024

[Ganglioneuroma of the Small Intestine Mimicking Crohn's Disease].

Acta gastroenterologica Latinoamericana
2025

Colonic Ganglioneuroma-A Rare Finding During Colonoscopy.

Diagnostics (Basel, Switzerland)
2025

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 reports
2025

From prominent corneal nerves to multiple endocrine neoplasia type 2B.

The lancet. Diabetes &amp; endocrinology
2024

A Case Series Study of Solitary Mucosal Neuroma-Rare Cases of Benign Peripheral Neurogenic Tumours.

Clinical pathology (Thousand Oaks, Ventura County, Calif.)
2025

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 journal
2025

Pure mucosal neuroma syndrome, not MEN2B.

BMJ case reports
2025

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2025

3 in 1: Manifestations of Multiple Endocrine Neoplasia Type 2B on Imaging.

JCEM case reports
2025

Dissection 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 Oncology
2025

Efficacy and Safety of Selective RET Inhibitors in Patients with Advanced Hereditary Medullary Thyroid Carcinoma.

Thyroid : official journal of the American Thyroid Association
2025

Living with a RET gene mutation: patient perspectives.

Endocrine-related cancer
2024

Multiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.

AME case reports
2024

Laryngeal Neuromas in a 5-Year-Old With MEN2B: A Case Report and Literature Review.

Ear, nose, &amp; throat journal
2024

Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma.

Pediatrics
2024

Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.

Primary care
2024

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) - case report.

Annals of agricultural and environmental medicine : AAEM
2024

Genotype-specific development of MEN 2 constituent components in 683 RET carriers.

Endocrine-related cancer
2024

Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Clinical journal of gastroenterology
2024

Spontaneous 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 oncology
2024

A case report of multiple endocrine neoplasia type 2B.

Annals of medicine and surgery (2012)
2024

Laryngeal Ganglioneuromatosis in a Child With Multiple Endocrine Neoplasia Type 2B (MEN2B): Case Report and Review of Literature.

Cureus
2023

[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia].

Problemy endokrinologii
2024

Impact 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 &amp; diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2023

MEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW.

Acta endocrinologica (Bucharest, Romania : 2005)
2023

Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.

International journal of pediatric otorhinolaryngology
2023

Withdrawn: Successful treatment of mucosal neuromas by radiofrequency ablation in a patient with multiple endocrine neoplasia type 2B.

Skin health and disease
2023

Tumor-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 medicine
2023

Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

BMC ophthalmology
2023

Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B.

American journal of ophthalmology case reports
2023

Successful treatment of mucosal neuromas by radiofrequency ablation in a patient with multiple endocrine neoplasia type 2B.

Skin health and disease
2023

["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 surgery
2023

Isolated diffuse intestinal ganglioneuromatosis presented as a redundant sigmoid colon: a case report.

Annals of medicine and surgery (2012)
2022

Thyroid Paraganglioma With Medullary Carcinoma: A Unique Combination in a Patient in Association With Multiple Endocrine Neoplasia Type 2B Syndrome With Prolonged Survival.

Cureus
2023

Frequency and impact of musculoskeletal symptoms on quality of life in MEN2B.

Clinical endocrinology
2022

A Case Study of Multiple Endocrine Neoplasia Type 2A.

Cureus
2022

Fracture Risk in Pediatric Patients With MEN2B.

The Journal of clinical endocrinology and metabolism
2022

[Multiple, bilateral conjunctival tumors-A 27-year-old female patient with MEN2B].

Die Ophthalmologie
2022

MEN2B Masquerading as Postural Orthostatic Tachycardia Syndrome.

JACC. Case reports
2022

Amphicrine Medullary Thyroid Carcinoma - a Case-Based Review Expanding on Its MUC Expression Profile.

Endocrine pathology
2022

Simultaneous unilateral laparoscopic adrenalectomy for pheochromocytoma and thyroidectomy in MEN 2A and MEN 2B syndrome.

Endokrynologia Polska
2022

Hypocalcemia-Induced Reversible Psychosis.

Cureus
2021

Characterization of Human Medullary Thyroid Carcinoma Glycosphingolipids Identifies Potential Cancer Markers.

International journal of molecular sciences
2021

Extra-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
2021

[Pediatric Multiple Endocrine Neoplasia Type 2B with Pheochromocytoma Diagnosed after Perforation of a Colonic Diverticulum : A Case Report].

Hinyokika kiyo. Acta urologica Japonica
2022

Cystic 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, Czechoslovakia
2022

A Most Unusual Polyposis.

Gastroenterology
2021

Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions.

Clinical endocrinology
2022

Multiple endocrine neoplasia type 2: A review.

Seminars in cancer biology
2021

Isolated intestinal Ganglioneuromatosis: case report and literature review.

Italian journal of pediatrics
2022

Development of colon cancer in a patient with longstanding colonic diffuse ganglioneuromatosis: a case report.

Clinical endoscopy
2021

Late diagnosis of metastatic pheochromocytoma in multiple endocrine neoplasia 2B with rapid clinical decline.

BMJ case reports
2021

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.

Endocrine
2020

Multiple endocrine neoplasia type 2B: A report of a rare case.

Journal of oral and maxillofacial pathology : JOMFP
2021

Hereditary medullary thyroid carcinoma syndromes: experience from western India.

Familial cancer
2021

Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.

Clinical endocrinology
2020

Multiple 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 sciences
2021

Prophylactic 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 Oncology
2020

MEN2B syndrome - paediatric case report.

Pediatric endocrinology, diabetes, and metabolism
2021

Impact of gastrointestinal symptoms on quality of life in MEN2.

Clinical endocrinology
2020

[Surgical aspects of multiple endocrine neoplasia type 2].

Therapeutische Umschau. Revue therapeutique
2021

Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.

Endocrine, metabolic &amp; immune disorders drug targets
2020

Solitary circumscribed neuroma of the conjunctiva: Differential diagnosis from neurofibroma is a must?

Arquivos brasileiros de oftalmologia
2020

Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b.

Ophthalmic genetics
2021

Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation.

Endocrine, metabolic &amp; immune disorders drug targets
2020

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review.

BMC pediatrics
2021

A Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype.

Thyroid : official journal of the American Thyroid Association
2021

Multiple endocrine neoplasia type 2B syndrome.

QJM : monthly journal of the Association of Physicians
2020

Pulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.

The Journal of clinical endocrinology and metabolism
2020

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Endocrine
2020

Anesthesia Management for Pediatric Patient With Multiple Endocrine Neoplasia Type 2B: A Case Report.

A&amp;A practice
2020

Terminal Ileum Thickening and Mucosal Ulcers in a Boy With Neurofibromatosis Type 1.

Gastroenterology
2020

A Peculiar Phenotype Hindering Early Diagnosis: Multiple Endocrine Neoplasia 2B Syndrome.

The American journal of medicine
2020

Point mutagenesis in mouse reveals contrasting pathogenetic effects between MEN2B- and Hirschsprung disease-associated missense mutations of the RET gene.

Development, growth &amp; differentiation
2019

Megacolon as the presenting feature of multiple endocrine neoplasia type 2B: a case report.

Hong Kong medical journal = Xianggang yi xue za zhi
2020

Update 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 oncology
2020

Update 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 oncology
2020

Revisiting the genotype-phenotype correlation in children with medullary thyroid carcinoma: A report from the GPOH-MET registry.

Pediatric blood &amp; cancer
2019

Prominent corneal nerves, conjunctival neuromas, and dry eye in a patient without MEN2B.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2020

Multiple endocrine neoplasia type 2B: Frequency of physical stigmata-Results of the GPOH-MET registry.

Pediatric blood &amp; cancer
2019

Isolated Intestinal Ganglioneuroma Mimicking Small Bowel Crohn's Disease.

ACG case reports journal
2019

Peripheral nerve disease secondary to systemic conditions in children.

Therapeutic advances in neurological disorders
2020

Cushing's Disease in a Patient with MEN 2B Syndrome.

The American journal of medicine
2019

In Vivo Confocal Microscopy of Prominent Conjunctival and Corneal Nerves in Multiple Endocrine Neoplasia Type 2B.

Cornea
2019

Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma.

Annales d'endocrinologie
2019

[Solitary ganglioneuroma of the oropharynx].

Arkhiv patologii
2019

MEN 2B masquerading as chronic blepharitis and euryblepharon.

Orbit (Amsterdam, Netherlands)
2019

Careful investigation of a rare disease: insights into multiple endocrine neoplasia type 2B.

The lancet. Diabetes &amp; endocrinology
2019

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

The lancet. Diabetes &amp; endocrinology
2019

Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka.

BMJ case reports
2019

Fifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases.

The Journal of clinical endocrinology and metabolism
2019

Genetic characterization of medullary thyroid cancer in childhood survivors of the Chernobyl accident.

Surgery
2018

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.

The Journal of pediatrics
2018

Neurofibroma discharged from the anus with stool: A case report and review of literature.

World journal of clinical cases
2019

Acute gastrointestinal bleeding, multiple GIST and intestinal ganglioneuromatosis in a patient with neurofibromatosis.

Cirugia espanola
2018

Visual Diagnosis: Exophytic Lesions on Tongue and Oral Mucosa.

Pediatrics in review
2018

The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2019

Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B.

The Journal of clinical endocrinology and metabolism
2018

Bone 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 imaging
2018

A Girl with Delayed Puberty and Bumpy Lips.

The Journal of pediatrics
2018

Multiple Endocrine Neoplasia in Children and the Importance of Screening: Part 2.

Journal of pediatric nursing
2019

Demographic, Clinical and Histopathological Features of Oral Neural Neoplasms: A Retrospective Study.

Head and neck pathology
2018

Drug resistance profiles of mutations in the RET kinase domain.

British journal of pharmacology
2018

Diffuse 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 medicine
2018

Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma.

Ocular oncology and pathology
2018

Multiple 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 Surgeons
2018

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2.

The British journal of surgery
2018

Prostate adenocarcinoma in a young patient with multiple endocrine neoplasia 2B.

Annales d'endocrinologie
2018

Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B.

Clinical endocrinology
2018

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.

Ophthalmic genetics
2018

Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium.

The Journal of clinical endocrinology and metabolism
2017

Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.

JAMA dermatology
2018

Constitutive Ret signaling leads to long-lasting expression of amphetamine-induced place conditioning via elevation of mesolimbic dopamine.

Neuropharmacology
2017

Visual Diagnosis: An 11-year-old Girl with Swollen Lips and Oral Bumps.

Pediatrics in review
2017

Generation 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 research
2018

Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome.

Clinical dysmorphology
2018

A comprehensive review on MEN2B.

Endocrine-related cancer
2017

Multiple 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
2017

[Bilateral corneal nerve hypertrophy associated with glaucoma in a boy with multiple endocrine neoplasia type 2B].

Journal francais d'ophtalmologie
2017

Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study.

Endocrine-related cancer
2017

Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

Journal of clinical and translational endocrinology case reports
2017

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

The Journal of clinical endocrinology and metabolism
2017

Multiple Endocrine Neoplasia Type 2B Unmasked by 18 F-FDG PET/CT and 131 I-MIBG SPECT/CT.

Clinical nuclear medicine
2017

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.

Head and neck pathology
2016

In Vivo Confocal Microscopic Architecture of Corneal Nerves in a Case of Multiple Endocrine Neoplasia Type 2b.

Middle East African journal of ophthalmology
2017

Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.

Journal of pediatric surgery
2017

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Thyroid : official journal of the American Thyroid Association
2016

M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.

Endocrine-related cancer
2016

[Raised lesions on tongue].

Medicina clinica
2017

Composite 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 surgery
2016

Isolated ileal ganglioneuromatosis in an 11-year-old boy: Case report and review of literature.

Indian journal of pathology &amp; microbiology
2016

[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 surgery
2016

Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B.

United European gastroenterology journal
2016

[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 pediatrie
2016

A Girl With Marfanoid Habitus and Distinctive Orolabial Lesions.

JAMA dermatology
2016

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.

Annual review of genomics and human genetics
2016

[Nodular eyelid margin and lip tumors without MEN2b syndrome in a 29 year old man].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2015

[A case of multiple endocrine neoplasia type 2B].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2016

The polypoid ganglioneuroma associated with hyperplastic polyposis.

The Korean journal of internal medicine
2016

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Clinical endocrinology
2016

Surgery for lymph node metastases of medullary thyroid carcinoma: A review.

Cancer
2015

Laryngeal neuromas in a case of multiple endocrine neoplasia type 2B.

Ear, nose, &amp; throat journal
2015

Primary Hyperparathyroidism in MEN2 Syndromes.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2015

Pheochromocytomas in Multiple Endocrine Neoplasia Type 2.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2015

Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2015

Medullary Thyroid Carcinoma: Imaging.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2015

Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.

Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
2016

Multiple palisaded encapsulated neuromas in siblings: A case report and review of the published work.

The Journal of dermatology
2015

Intestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding.

BMJ case reports
2015

The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.

Experimental and molecular pathology
2015

Tactile Corpuscle-like Bodies in Gastrointestinal-type Mucosa: A Case Series.

The American journal of surgical pathology
2015

IMAGES IN CLINICAL MEDICINE. Multiple Mucosal Neuroma.

The New England journal of medicine
2015

Primary RET-mutated lung neuroendocrine carcinoma in MEN2B: response to RET-targeted therapy.

Endocrine-related cancer
2016

Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives.

Familial cancer
2015

Cutaneous hyperneury: a new entity or an atypical cutaneous manifestation of MEN 2B?

Skinmed
2015

Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

Gastroenterology
2015

A 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 disorders
2015

An unusual cause of hemoperitoneum: case report with review of literature.

International journal of surgery case reports
2015

Patterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy.

International journal of pediatric endocrinology
2015

[Multiple endocrine neoplasia type 2B].

Nederlands tijdschrift voor geneeskunde
2015

[Lingual neuromas in childhood as clue for diagnosis of the MEN 2B syndrome].

Cirugia espanola
2015

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : official journal of the American Thyroid Association
2015

Synchronous diffuse ganglioneuromatosis and multiple schwannomas of the colon: A case report and literature review.

Experimental and therapeutic medicine
2015

Double-balloon enteroscopy for the detection of diffuse small-bowel polypoid ganglioneuromatosis mimicking Crohn's disease in a patient with von Recklinghausen disease.

Endoscopy
Ver todos os 172 no EuropePMC

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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.

  1. Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report.
    Therapeutic advances in endocrinology and metabolism· 2026· PMID 41625128mais citado
  2. Pure mucosal neuroma syndrome, not MEN2B.
    BMJ case reports· 2025· PMID 40127961mais citado
  3. From prominent corneal nerves to multiple endocrine neoplasia type 2B.
    The lancet. Diabetes &amp; endocrinology· 2025· PMID 40587990mais citado
  4. 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
  5. Late-Onset Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2B (MEN2B): Diffuse Ganglioneuromatosis Causing Megacolon.
    Cureus· 2025· PMID 41487748mais citado
  6. The clinical consequences of diagnostic delay in sporadic pediatric MEN2B: a case series of 6 children.
    Eur J Pediatr· 2026· PMID 41961175recente
  7. Metastatic Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia Type 2B (MEN 2B) With RET M918T Mutation: Challenges in Long-Term Management and Targeted Therapy.
    Cureus· 2026· PMID 41918669recente
  8. Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
    Reports (MDPI)· 2025· PMID 41441535recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:247709(Orphanet)
  2. OMIM OMIM:162300(OMIM)
  3. MONDO:0008082(MONDO)
  4. GARD:10225(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Neoplasia endócrina múltipla, tipo 2B
Compêndio · Raras BR

Neoplasia endócrina múltipla, tipo 2B

ORPHA:247709 · MONDO:0008082
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
D44.8 · Neoplasia de comportamento incerto ou desconhecido com comprometimento pluriglandular
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0025269
EuropePMC
Wikidata
Papers 10a
Evidência
🥉 Relato de caso
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