Uma doença genética que aumenta a chance de desenvolver tumores, transmitida de forma autossômica dominante. Ela é causada por mutações no gene RET e é caracterizada por um risco maior de ter câncer medular de tireoide, feocromocitoma (um tumor nas glândulas suprarrenais) e hiperparatireoidismo (quando as glândulas paratireoides funcionam demais).
Introdução
O que você precisa saber de cara
Uma doença genética que aumenta a chance de desenvolver tumores, transmitida de forma autossômica dominante. Ela é causada por mutações no gene RET e é caracterizada por um risco maior de ter câncer medular de tireoide, feocromocitoma (um tumor nas glândulas suprarrenais) e hiperparatireoidismo (quando as glândulas paratireoides funcionam demais).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 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.
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 781 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 2A
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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
16 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
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.
Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.
Germline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized. We report two MEN2A families-a homozygous female patient and heterozygous male twins, all with RET-p.C634Y mutations and classic MEN2A manifestations. A systematic review identified 18 homozygous cases from 10 families, involving exons 11, 14, and 15, containing nine types of mutations, presenting a female (55.6%) and moderate-risk mutation (61.1%) predominance. Overall, 83.3% of the 18 patients with homozygous mutations and 30.6% of the 49 patients with heterozygous mutations from the same generation had medullary thyroid carcinoma (MTC). The homozygous mutations had a higher penetrance rate of MTC (P < 0.001) and rates of node-positive metastasis (8/15 vs. 1/15, P = 0.017). However, the comparison of the mean age at initial MTC diagnosis between patients with homozygous and heterozygous mutations [33.40 ± 17.97 (5-59) vs. 39.60 ± 12.94 (14-61) years], as well as in moderate-risk and high-risk patients with homozygous mutations [36.89 ± 16.21 (13-59) vs. 28.17 ± 20.72 (5-56) years], showed no significant differences (all P > 0.05). Additionally, the mean age at diagnosis and the incidence of pheochromocytoma did not differ significantly [(37.75 ± 18.43) vs. (39.5 ± 3.54); 27.8% vs. 13.3%; all P > 0.05]. Clustered data for identical twins diagnosed with MEN2 were also analyzed, including one with MEN2A and two with MEN2B. All three pairs of identical twins exhibited varying clinical presentations, expressivity of MEN2-related MTC and/or pheochromocytoma, and associated biomarker levels. Homozygous MEN2A accelerates MTC onset and increases metastasis risk, but there is no evidence of association with the development of pheochromocytoma. Consanguineous marriage could increase homozygosity in offspring and the number of affected individuals. Expressivity and clinical progression can vary even with the same genetic backgrounds, and identical twins should also be subject to individual management.
Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
Persistent hypercalcemia after parathyroidectomy is a diagnostic challenge that requires careful evaluation beyond the parathyroid glands. We describe the case of a 76-year-old man with chronic kidney disease, resistant hypertension, and vestibular schwannoma who presented with weakness, constipation, and new, dark, raised lesions across his back. He reported undergoing parathyroidectomy one year earlier for presumed primary hyperparathyroidism, after which his hypercalcemia persisted. On admission, serum calcium was 13.1 mg/dL (reference = 8.5-10.5 mg/dL), and examination revealed numerous seborrheic keratoses across his posterior thoracolumbar region, consistent with the Leser-Trélat sign. A Tc-99m sestamibi scan localized a left inferior parathyroid adenoma. MRI of the abdomen revealed a 4.1 × 3.6 × 3.1 cm enhancing posterior right renal mass consistent with renal cell carcinoma (RCC). Further history revealed long-term thiazide diuretic use and consumption of one gallon of milk every other day. He was treated with intravenous fluids, zoledronic acid, and calcitonin with symptomatic improvement and was referred to a tertiary center for surgical evaluation. Persistent hypercalcemia after parathyroidectomy is most often due to multiglandular disease, but it may coexist with other etiologies. This patient's concurrent parathyroid adenoma, RCC, thiazide use, and high calcium intake illustrate multifactorial hypercalcemia. Additionally, vestibular schwannoma, cutaneous lesions, and resistant hypertension suggest a possible hereditary tumor syndrome such as multiple endocrine neoplasia type 2A, neurofibromatosis type 2, or von Hippel-Lindau disease. This case highlights the risk of cognitive anchoring when hypercalcemia is attributed to a single pathology. Instead, a broad differential should be maintained, including concurrent malignancy or inherited syndromes. Early recognition of overlapping etiologies is essential to prevent delayed diagnosis or missed malignancy in patients with persistent hypercalcemia.
Long-term calcitonin after thyroidectomy for medullary thyroid cancer in MEN2A.
Thyroidectomy is recommended for patients with multiple endocrine neoplasia type 2A (MEN2A). American Thyroid Association 2015 guidelines recommend follow-up of calcitonin values after thyroidectomy. The aim of this study was to determine the natural course of calcitonin levels after total thyroidectomy (TTx) in MEN2A patients. Patients with MEN2A who underwent TTx between 1993 and 2019 and had multiple postoperative calcitonin measurements were retrospectively included from our referral center. Long-term serial calcitonin measurements and clinical outcomes were correlated to the first postoperative calcitonin, histopathology and type of TTx (prophylactic versus non-prophylactic). Fifty-two patients underwent TTx after 1993 at a median age of 10 years (range 0-71). Of these, 23 (44%) had no MTC and 29 (56%) had MTC. The median follow-up time was 12 years (range 3-30). Thirty-eight patients had an 'undetectable' first postoperative calcitonin, seven 'within reference range' and seven 'above reference range'. Of the 38 patients with an 'undetectable' first postoperative calcitonin, 32 remained 'undetectable'. All 21 patients without MTC and 'undetectable' first postoperative calcitonin remained 'undetectable'. Of the 17 patients with MTC and 'undetectable' first postoperative calcitonin, 11 remained 'undetectable' and none developed structural recurrence. Twenty-two of the 25 patients undergoing prophylactic thyroidectomy had repeated 'undetectable' measurements. Persistent MTC or structural recurrence occurred in six patients; all had MTC, had a detectable first postoperative calcitonin and underwent non-prophylactic TTx. In conclusion, the long-term serial calcitonin values remain undetectable in the majority of the patients with an undetectable first postoperative calcitonin. Biochemical follow-up for patients without MTC and an undetectable first postoperative calcitonin may not be necessary.
Redefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
Multiple endocrine neoplasia type 2 (MEN2) is caused by germline RET mutations and is characterized by the presence of medullary thyroid cancer (MTC) associated or not with other endocrine neoplasias. MEN2 is classified as MEN2A, including different variants, and MEN2B. The aim of the present study was to evaluate the impact of the RET genetic screening in redefining the prevalence of the different MEN2 variants inside the MEN2A group. This study included 223 MEN2 families: 202 MEN2A (55 MEN2A classical, 3 MEN2A + lichen cutaneous amyloidosis (CLA), 5 MEN2A + Hirschsprung disease (HD) and 139 FMTC variants) and 21 MEN2B. RET germline mutations found in MEN2A classical variant, as well as in MEN2A + CLA and MEN2A + HD, were the 'high-risk' category in most cases, while only 5/139 RET-mutated FMTC families showed a 'high-risk' category mutation. The most frequent mutation in the FMTC variant was the p.Val804Met (62/139). Among all, 116 families had a known history of hereditary disease (group A) at diagnosis and 107 had an apparently sporadic form of MTC (group B). Different MEN2A variants and RET ATA risk level category mutations were observed in the two groups. In conclusion, we demonstrated that the FMTC is the most prevalent MEN2A variant; 'moderate-risk' RET mutations, particularly non-cysteine mutations, are almost exclusively present in the FMTC variant; about 50% of hereditary MTC kindreds are primarily discovered by the RET genetic screening, confirming the clinical utility of performing this analysis in all cases of MTC.
Publicações recentes
Sarcoidosis-Induced Hypercalcemia in a Patient With Multiple Endocrine Neoplasia Type 2A (MEN2A) Syndrome Harboring the C609Y REarranged During Transfection (RET) Mutation.
Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
Long-term calcitonin after thyroidectomy for medullary thyroid cancer in MEN2A.
RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
📚 EuropePMC295 artigos no totalmostrando 198
Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
JCEM case reportsRare 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 endocrinologyPersistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
CureusLong-term calcitonin after thyroidectomy for medullary thyroid cancer in MEN2A.
Endocrine-related cancerRET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
GenesRedefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
Endocrine-related cancer[Integration of Molecular, Genetic, and Surgical Evidence Into the Indication Criteria for Preventive Thyroid Surgery].
Zentralblatt fur ChirurgiePresentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.
Frontiers in endocrinologyUntying the Next Genetic Thread in a Family With MEN2A Syndrome: A Case Report.
Clinical case reportsMedullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.
Endocrine journalGenotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.
PloS oneDo 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 AssociationMultifocality and bilaterality in medullary thyroid cancer: basis for a proof-of-concept safety of lobectomy.
European thyroid journalA Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.
Medicina (Kaunas, Lithuania)Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.
EndocrineRET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.
CureusMedullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.
JAMA network openMultiple endocrine neoplasia type 2A: a diagnostic challenge case report.
Annals of medicine and surgery (2012)Partial adrenalectomy for pheochromocytoma in the multiple endocrine neoplasia type 2 population: Time to reconsider?
SurgeryMulticentric 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 pathologyMEN2: surgical precision in the era of precision medicine.
Endocrine-related cancerPopulation Prevalence of the Major Thyroid Cancer-Associated Syndromes.
The Journal of clinical endocrinology and metabolismManagement and Long-Term Monitoring of a Young Patient with Pheochromocytoma and RET Mutation: A Case Report.
International medical case reports journalPrevalence and genetics of "de novo" MEN2 syndromes.
The Journal of clinical endocrinology and metabolismChallenging Perioperative Management of a MEN2A Syndrome Patient Complicated by Eisenmenger Syndrome.
Turkish journal of anaesthesiology and reanimationPost-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 metabolismPrimary 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 cancerHereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerEpidemiology, Clinical Presentation, and Diagnosis of Medullary Thyroid Carcinoma.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerIncidence and distribution of neck node metastases in hereditary vs. sporadic medullary thyroid cancer at basal calcitonin serum levels ≤100 pg/ml: 30-year experience.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyRET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study.
CancersProteomic Profiling of Medullary Thyroid Cancer Identifies CAPN1 as a Key Regulator of NF1 and RET Fueled Growth.
Thyroid : official journal of the American Thyroid Association[Metastatic pheochromocytoma in multiple endocrine neoplasia type 2A].
Problemy endokrinologiiNatural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE).
Annales d'endocrinologieSynchronous transperitoneal robotic-assisted bilateral cortical-sparing adrenalectomy for pheochromocytomas in a patient with multiple endocrine neoplasia type 2a (MEN2A) syndrome: a case report.
Gland surgeryChapter 6: Syndromic primary hyperparathyroidism.
Annales d'endocrinologieRemission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy.
JCEM case reportsGenotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
The Journal of clinical endocrinology and metabolismRET signalling in the pituitary: a double-edged sword for differentiation, apoptosis and therapeutic strategies in acromegaly.
Endocrine-related cancerDissection 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 AssociationRobot-Assisted Surgery and Multigene Panel Testing for Pheochromocytoma and Paraganglioma Syndrome.
CureusLiving with a RET gene mutation: patient perspectives.
Endocrine-related cancerCellular mechanisms of RET receptor dysfunction in multiple endocrine neoplasia 2.
Endocrine-related cancerSporadic and Familial Medullary Thyroid Carcinoma: A Retrospective Single Center Study on Presentation and Outcome.
Endocrine researchGenotype/phenotype correlations in multiple endocrine neoplasia type 2.
Endocrine-related cancerThyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).
International journal of molecular sciencesThe Long-Term Cure of Patients With Hereditary Medullary Thyroid Carcinoma: 40 Years of Follow-Up in a Single Center.
Deutsches Arzteblatt internationalOrigin and impact of multifocal growth in sporadic vs. hereditary medullary thyroid cancer.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyMultiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
Primary careOncological features of sporadic vs. hereditary pediatric medullary thyroid cancer.
EndocrineCritically evaluated key points on hereditary medullary thyroid carcinoma.
Frontiers in endocrinologyC634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report.
World journal of clinical cases[30 years of prophylactic thyroidectomy for hereditary medullary thyroid cancer : A milestone in translational medicine].
Chirurgie (Heidelberg, Germany)Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).
World journal of surgical oncologyGenotype-specific development of MEN 2 constituent components in 683 RET carriers.
Endocrine-related cancer[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association].
MedicinaClinical Activity of Selpercatinib in RET-mutant Pheochromocytoma.
The Journal of clinical endocrinology and metabolismGenetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Orphanet journal of rare diseasesDeveloping Dynamic Structure-Based Pharmacophore and ML-Trained QSAR Models for the Discovery of Novel Resistance-Free RET Tyrosine Kinase Inhibitors Through Extensive MD Trajectories and NRI Analysis.
ChemMedChemAccelerated MEN2A in homozygous RET carriers in the context of consanguinity.
European journal of endocrinologyPediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.
The Journal of clinical endocrinology and metabolismRET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.
American journal of medical genetics. Part AThe role of prophylactic parathyroidectomy during thyroidectomy for MTC in patients with MEN2A syndrome.
Folia medicaRET kinase inhibitors for the treatment of RET-altered thyroid cancers: Current knowledge and future directions.
Annales d'endocrinologieThe Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
International journal of molecular sciencesRare and aggressive metastatic pheochromocytoma recurrence in a patient with MEN 2A syndrome.
BMJ case reports[A Case Report of Multiple Endocrine Neoplasia Type 2A(MEN2A)Diagnosed with Medullary Thyroid Carcinoma].
Gan to kagaku ryoho. Cancer & chemotherapyDiagnostic and Surgical Challenges Associated With Sporadic Multiple Endocrine Neoplasia 2A Presenting as Non-syndromic Primary Hyperparathyroidism.
The American surgeon[Individualization of treatment in sporadic and hereditary medullary thyroid cancer].
Chirurgie (Heidelberg, Germany)Comparing nodal with primary tumor desmoplasia uncovers metastatic patterns in multiple endocrine neoplasia 2B.
European journal of endocrinologyClinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.
Frontiers in endocrinologyLeft anterior descending artery disease in a 27-year-old with multiple endocrine neoplasia, type 2A: A case report.
SAGE open medical case reportsMultiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.
Current opinion in oncologyImpact 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 Association[Surgical treatment of pheochromocytoma].
Problemy endokrinologiiMultiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening.
QJM : monthly journal of the Association of PhysiciansGermline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families.
European journal of endocrinologyNo relevant spectator impact on home advantage in male and female professional volleyball - A longitudinal multilevel logistic model analysis over 25 years.
Psychology of sport and exercisePediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.
International journal of pediatric otorhinolaryngologyClinic Heterogeneity and Management of Pediatric Patients With Germline RET Proto-oncogene Mutation: Single-center Experience.
Journal of pediatric hematology/oncologyRemote Recurrent Primary Hyperparathyroidism in Auto-Transplanted Tissue.
CureusClinical presentation of MEN 2A in index vs. non-index patients.
EndocrineIncidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database.
Pediatric surgery internationalBenzene and cause-specific mortality in an Italian national cohort of exposed workers through a proportions analysis.
Epidemiologia e prevenzione[Pheochromocytoma associated with primary hyperparathyroidism and type 1 neurofibromatosis].
KhirurgiiaLived experiences of undergoing regular tumor screening in patients with multiple endocrine neoplasia types 1 and 2 (MEN1/MEN2).
Journal of genetic counselingDiagnosis and treatment of bilateral adrenal pheochromocytoma with RET gene mutation combined with medullary sponge kidney: A case report.
MedicineA MEN-2A Case Developing Transient Adrenal Insufficiency after Unilateral Pheochromocytoma Surgery.
Journal of clinical practice and researchDiagnostic Utility of Menin Immunohistochemistry in Patients With Multiple Endocrine Neoplasia Type 1 Syndrome.
The American journal of surgical pathologyLooking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Endocrine[A case of multiple endocrine neoplasia syndrome type 2A combined with autoimmune polyendocrine syndrome type Ⅲ].
Zhonghua nei ke za zhiPrimary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study.
CancersThe Changing Face of Multiple Endocrine Neoplasia 2A: From Symptom-Based to Preventative Medicine.
The Journal of clinical endocrinology and metabolismA Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family.
Diagnostics (Basel, Switzerland)The protean role of Val804Met RET mutation in thyroid neoplasms: An example of a "MEN2C" syndrome?
Pathology, research and practice["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[Hereditary medullary thyroid cancer].
Chirurgie (Heidelberg, Germany)Familial parathyroid tumours-comparison of clinical profiles between syndromes.
Journal of endocrinological investigationPediatric Thyroidectomy: Experience From a Portuguese Hospital.
CureusMetastatic medullary thyroid carcinoma (MTC): disease course, treatment modalities and factors predisposing for drug resistance.
EndocrineMenin Loss in Pheochromocytoma of Multiple Endocrine Neoplasia Type 1.
Endocrine pathologyTemporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.
EndocrineProgressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome.
IJU case reportsCalvarial metastasis from malignant pheochromocytoma associated with multiple endocrine neoplasia.
Surgical neurology international[The trends in early precision diagnosis and treatment strategies of multiple endocrine neoplasia type 2].
Zhonghua wai ke za zhi [Chinese journal of surgery]Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Human mutationPheochromocytoma recurrence in hereditary disease: does a cortical-sparing technique increase recurrence rate?
Surgery[Correlation analysis of clock genes and MEN2 medullary thyroid carcinoma].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryNovel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Cancer researchMedullary thyroid cancer with RET V804M mutation: more indolent than expected?
Surgery[Clinical and genetic analysis of seven Chinese pedigrees affected with multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Case Study of Multiple Endocrine Neoplasia Type 2A.
CureusInvited Commentary: Less than Subtotal Parathyroidectomy for Multiple Endocrine Neoplasia Type 1 Primary Hyperparathyroidism: A Systematic Review and Meta-Analysis.
World journal of surgeryUnexpected structures formed by the kinase RET C634R mutant extracellular domain suggest potential oncogenic mechanisms in MEN2A.
The Journal of biological chemistry[Multiple, bilateral conjunctival tumors-A 27-year-old female patient with MEN2B].
Die OphthalmologieRET gene mutational diagnosis and precision medicine in Mexico.
Gaceta medica de MexicoElevated Calcitonin Levels in a Patient With a Pheochromocytoma: A Case Report.
The American surgeonAnesthesia and Outcome of 33 Surgeries in 24 Multiple Endocrine Neoplasia Type 2A (MEN2A) Patients: A National Rare Disease Center's Experience.
Frontiers in endocrinologyManagement of medullary carcinoma of the thyroid: a review.
The Journal of international medical researchMedullary thyroid carcinoma: a narrative historical review.
Expert review of anticancer therapyPheochromocytoma triggered by coronavirus disease 2019: a case report.
Journal of medical case reportsMultiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.
Endocrine journalRET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas.
GenesRecurrent ipsilateral pheochromocytoma in carriers of RET p.Cys634 missense mutations.
EndocrineMultiple endocrine neoplasia type 4 & primary hyperparathyroidism: What the surgeon needs to know.
American journal of surgerySporadic Medullary Thyroid Carcinoma: Towards a Precision Medicine.
Frontiers in endocrinologySimultaneous unilateral laparoscopic adrenalectomy for pheochromocytoma and thyroidectomy in MEN 2A and MEN 2B syndrome.
Endokrynologia PolskaSusceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.
Frontiers in endocrinologyMEN2A syndrome presenting as medullary thyroid cancer metastasizing into the pheochromocytoma.
Asian journal of surgery[Clinical and laboratory features of hereditary pheochromocytoma and paraganglioma].
Problemy endokrinologiiFractures in type 2 diabetes confer excess mortality: The Dubbo osteoporosis epidemiology study.
BoneSex differences in MEN 2A penetrance and expression according to parental inheritance.
European journal of endocrinologyFibroblast Activation Protein Inhibitor Imaging and Therapy in a Patient With Multiple Endocrine Neoplasia Type 2A Syndrome.
Clinical nuclear medicineSurgical aspects and controversies in the management of medullary thyroid cancer.
Irish journal of medical scienceQuality of work community and workers' intention to retire.
International archives of occupational and environmental healthMultiple endocrine neoplasia 2A presenting in a family with a history of Hirschprung's disease.
Oxford medical case reportsGermline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Frontiers in endocrinologyUpdates on therapy for medullary thyroid cancer in 2021.
Annales d'endocrinologieClinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).
The Korean journal of internal medicinePreoperative calcitonin testing improves the diagnosis of medullary thyroid carcinoma in female and male patients.
European journal of endocrinologyClinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study.
World journal of surgeryCase Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.
Frontiers in endocrinologyLaparoscopic resection of aortocaval paraganglioma diagnosed by serial increase in urinary metanephrines after bilateral adrenalectomy in a patient with multiple endocrine neoplasia type 2A.
IJU case reportsHow does nintedanib overcome cancer drug-resistant mutation of RET protein-tyrosine kinase: insights from molecular dynamics simulations.
Journal of molecular modelingParathyroid Tumors: Molecular Signatures.
International journal of molecular sciencesMedullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?
Familial cancerState of the art and future directions in the systemic treatment of medullary thyroid cancer.
Current opinion in oncologyContinued Discontinuation of TKI Treatment in Medullary Thyroid Carcinoma - Lessons From Individual Cases With Long-Term Follow-Up.
Frontiers in endocrinologyControversy on the management of patients carrying RET p.V804M mutation.
EndocrineCalcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents.
Journal of pediatric endocrinology & metabolism : JPEMImpact of RET Screening on the Management of Multiple Endocrine Neoplasia Type 2A: 10 Years Experience and Follow-Up in Three Families.
Endocrine, metabolic & immune disorders drug targetsLate-Onset Medullary Thyroid Cancer in a Patient with a Germline RET Codon C634R Mutation.
Diagnostics (Basel, Switzerland)Surgical Remission of Diabetes in a Patient With Mutation of RET Proto-Oncogene.
AACE clinical case reportsMultiple endocrine neoplasia type 2: diagnostic challenges of a medullary thyroid carcinoma nodule.
Internal medicine journalA patient with RET D631Y mutation present with pheochromocytoma.
Clinical case reportsChildren with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions.
Clinical endocrinologyElevated basal serum levels of calcitonin and simultaneous surgery of MEN2A-specific tumors.
NeoplasmaNew mutations associated with Hirschsprung disease.
Anales de pediatriaMultiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report.
MedicinePheochromocytoma: A three-decade clinical experience in a multicenter study.
Revista clinica espanolaSimilar Stage-dependent Survival and Outcome in Sporadic and Hereditary Medullary Thyroid Carcinoma.
The Journal of clinical endocrinology and metabolismInvited Commentary: "Familial Non-Medullary Thyroid Carcinoma in Pediatric Age: Our Surgical Experience.".
World journal of surgeryCrude annual incidence rate of medullary thyroid cancer and RET mutation frequency.
Croatian medical journalSpectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.
BMC cancerMedullary thyroid cancer: molecular factors, management and treatment.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieManagement and results of thyroidectomies in pediatric patients with MEN 2 syndrome.
Journal of pediatric surgeryMultiple endocrine neoplasia type 2: A review.
Seminars in cancer biologyFunctional impact of a germline RET mutation in alveolar rhabdomyosarcoma.
Cold Spring Harbor molecular case studiesCase report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
American journal of medical genetics. Part A[A young male with multiple endocrine neoplasia type 2 misdiagnosed as viral myocarditis].
Zhonghua xin xue guan bing za zhiHereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.
World journal of surgeryPheochromocytoma in Multiple Endocrine Neoplasia Type 2.
Mayo Clinic proceedingsInherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.
Endocrine pathologyGenomics and Epigenomics of Medullary Thyroid Carcinoma: From Sporadic Disease to Familial Manifestations.
Endocrine pathologyTimely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.
EndocrineHomozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A.
European journal of medical geneticsRMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer.
Orphanet journal of rare diseasesA rare RET mutation in an Indian pedigree with familial medullary thyroid carcinoma.
Indian journal of cancerHereditary 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 sciencesMolecular targets of tyrosine kinase inhibitors in thyroid cancer.
Seminars in cancer biologyPreimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A.
Frontiers in endocrinologyImpact of gastrointestinal symptoms on quality of life in MEN2.
Clinical endocrinology[Surgical aspects of multiple endocrine neoplasia type 2].
Therapeutische Umschau. Revue therapeutiquePredicting Outcomes in Sporadic and Hereditary Medullary Thyroid Carcinoma over Two Decades.
Thyroid : official journal of the American Thyroid AssociationPhaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A.
Journal of surgical case reports[Familial papillary thyroid cancer].
Orvosi hetilapA novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.
Familial cancer5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.
Frontiers in endocrinologyThe synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.
Journal of cellular and molecular medicineLymph node metastasis in hereditary medullary thyroid cancer is independent of the underlying RET germline mutation.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyLaparoscopic transperitoneal left partial adrenalectomy for familial pheochromocytoma (with video).
Journal of visceral surgeryMultiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.
BMJ case reportsExpression and purification of the extracellular domain of wild-type humanRET and the dimeric oncogenic mutant C634R.
International journal of biological macromoleculesAssociações
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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.
- Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
- Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.
- Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
- Long-term calcitonin after thyroidectomy for medullary thyroid cancer in MEN2A.
- Redefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
- Sarcoidosis-Induced Hypercalcemia in a Patient With Multiple Endocrine Neoplasia Type 2A (MEN2A) Syndrome Harboring the C609Y REarranged During Transfection (RET) Mutation.
- RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:247698(Orphanet)
- OMIM OMIM:171400(OMIM)
- MONDO:0008234(MONDO)
- GARD:4881(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q604075(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
