A neoplasia endócrina múltipla tipo 2 (NEM2) é uma neoplasia endócrina múltipla, uma síndrome de câncer poliglandular caracterizada pela ocorrência de carcinoma medular de tireoide (CMT), feocromocitoma (PCC), em uma variante, o hiperparatireoidismo primário (HPTP). Existem três formas: MEN2A, MEN2B e carcinoma medular familiar da tireoide (FMTC).
Introdução
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A neoplasia endócrina múltipla tipo 2 (NEM2) é uma neoplasia endócrina múltipla, uma síndrome de câncer poliglandular caracterizada pela ocorrência de carcinoma medular de tireoide (CMT), feocromocitoma (PCC), em uma variante, o hiperparatireoidismo primário (HPTP). Existem três formas: MEN2A, MEN2B e carcinoma medular familiar da tireoide (FMTC).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 71 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
3 genes identificados 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.
Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1281417, PubMed:15488758, PubMed:17196528, PubMed:1849459, PubMed:1850821, PubMed:22649032, PubMed:27445338, PubMed:8325889). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axon
Cell membraneEarly endosome membraneLate endosome membraneRecycling endosome membrane
Congenital insensitivity to pain with anhidrosis
Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.
Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560) Lacks ligand binding ability and has no or only very low ERE binding activity resulting in the loss of ligand-dependent transactivation ability
Nucleus
Ovarian dysgenesis 8
An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
832 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,225 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 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 — Neoplasias endócrinas múltiplas tipo 2
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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
17 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
The discovery of RET as the primary driver of hereditary medullary thyroid cancer in multiple endocrine neoplasia syndrome drastically changed the diagnosis, management, and prognosis of patients with this rare endocrine tumor. First, from a diagnostic viewpoint, RET testing within families became possible, ruling out unnecessary follow-up for negative patients and proposing an adapted surveillance protocol for positive patients. Second, large-scale epidemiological studies paved the way for early "prophylactic" thyroidectomy, rendering a historically fatal disease curable. RET identification also allowed for proper screening of pheochromocytoma and primary hyperparathyroidism. Lastly, RET identification enabled the synthesis of new, highly effective, and well-tolerated specific inhibitors, which changed the outcome for patients with metastatic disease. The RET discovery is thus a perfect example of how gene discovery can transform the fate of a rare syndrome, and this is what will be described in this short review.
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.
Systematic structure-based analysis of RET variants in MEN2A, Hirschsprung's disease, and their paradoxical co-occurrence.
Mutations in the human receptor tyrosine kinase RET can cause loss-of-function and Hirschsprung's disease (HSCR), while activating RET mutations drive cancers including multiple endocrine neoplasia type 2 (MEN2). Paradoxically, some mutations cause both HSCR and MEN2A. We curated 77 RET extracellular positions associated with HSCR, MEN2A, or both and used a structure-based approach to predict the effects of mutations at these positions on RET structure. Approximately 90% of HSCR-associated positions can, upon mutation, disrupt intramolecular interactions stabilizing RET tertiary structure via distinct mechanisms. Only a minority perturb protein-protein interactions needed for signal activation. In contrast, our analysis showed that ∼75% of mutations causing MEN2A lead to an unpaired cysteine that can form an intermolecular disulfide bond between two RET monomers. Other MEN2A mutations likely enhance RET homodimerization via membrane-proximal extracellular interactions. Substitutions that concurrently destabilize RET structure and result in an unpaired cysteine are predicted to cause the paradoxical co-occurrence of HSCR and MEN2A. Our findings lay out a mechanistic basis for almost all identified pathological RET mutations and suggest therapeutic strategies for targeting RET activity in HSCR and MEN2A.
Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.
Recent genetic analyses have revealed that bilateral pheochromocytoma (PCC) is more frequently associated with hereditary syndromes, such as von Hippel-Lindau (VHL) disease and multiple endocrine neoplasia type 2 (MEN2), than previously recognized. Although bilateral adrenalectomy has traditionally been considered the standard treatment for bilateral PCC, it inevitably results in permanent adrenal insufficiency, requiring lifelong steroid replacement and increasing the risk of adrenal crisis. As an alternative strategy, adrenal-sparing surgery has been proposed to preserve adrenal function; however, concerns remain regarding the risk of tumor recurrence in the remnant adrenal tissue. We report four cases of bilateral PCC treated with adrenal-sparing surgery at The Jikei University Hospitals. Adrenal-sparing surgery was successfully attempted in all patients, and all avoided long-term steroid dependence. Genetic testing confirmed VHL disease in one patient in the overall cohort. Based on family history and clinical features, VHL disease was suspected in one additional patient, and MEN2 was suspected in two patients. Based on our experience and a review of the literature, adrenal-sparing surgery allows preservation of adrenal function and can eliminate the need for postoperative steroid replacement in many patients with bilateral PCC. Although the risk of recurrence in the residual adrenal gland may be higher than that after total adrenalectomy, recurrence at other sites and overall mortality appear comparable between the two surgical approaches. Therefore, adrenal-sparing surgery represents a valuable surgical option in carefully selected patients. Furthermore, recent studies have identified pathogenic mutations in several genes associated with bilateral PCC, with incidence and prognosis varying according to genetic background. Gene mutations are more likely in younger patients, those with tumors ≥5 cm, paragangliomas (PGLs), norepinephrine-secreting tumors lacking epinephrine production, and individuals with known hereditary syndromes, who also exhibit a higher risk of recurrence. Accordingly, current guidelines recommend lifelong surveillance and individualized management based on genetic and clinical factors.
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.
Publicações recentes
How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
💬 OpiniãoAdvanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
Systematic structure-based analysis of RET variants in MEN2A, Hirschsprung's disease, and their paradoxical co-occurrence.
Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.
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.
📚 EuropePMC278 artigos no totalmostrando 198
How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
Annales d'endocrinologieAdvanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
JCEM case reportsSystematic structure-based analysis of RET variants in MEN2A, Hirschsprung's disease, and their paradoxical co-occurrence.
Disease models & mechanismsBilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.
Translational andrology and urologyRare 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 endocrinologyIncretin Mimetics in Cancer and Cardiovascular Disease: JACC: CardioOncology State-of-the-Art Review.
JACC. CardioOncologyRare RET Variants in a Patient With MEN2A and Multiple Follicular-Derived Thyroid Tumors: A Case Report and Review of the Literature.
International journal of surgical pathologyRET germline mutations drive tumorigenesis but not tumor aggressiveness in MEN 2.
EndocrineCalcitonin Thresholds for Prediction of Medullary Thyroid Carcinoma and its Clinical Response in MEN2A Gene Carriers.
The Journal of clinical endocrinology and metabolismEfficacy 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 spolecnostiRedefining the prevalence of different clinical variants in MEN2A and their correlation with RET germline mutations: a single-center series and experience.
Endocrine-related cancerPresentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.
Frontiers in endocrinologyCLINICAL EVALUATION, DIAGNOSIS AND TREATMENT OF PHEOCHROMOCYTOMA.
Acta clinica CroaticaMedullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.
Endocrine journalA Case of Micro-medullary Thyroid Carcinoma Presenting as Cancer of Unknown Primary.
CureusInhibitory Effects of Vandetanib on Catecholamine Synthesis in Rat Pheochromocytoma PC12 Cells.
International journal of molecular sciencesWhen Diarrhea Tells a Deeper Story: A Curious Case of Metastatic Medullary Thyroid Carcinoma.
CureusContribution of Germline Predisposition to Pediatric Thyroid Cancer.
Clinical cancer research : an official journal of the American Association for Cancer ResearchMedullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.
JAMA network openFour decades of the RET gene: From discovery to tumor-agnostic therapy.
Journal of the Formosan Medical Association = Taiwan yi zhiDouble mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.
Endocrinology, diabetes & metabolism case reportsPartial adrenalectomy for pheochromocytoma in the multiple endocrine neoplasia type 2 population: Time to reconsider?
SurgeryBeyond Hypertension: Hypoglycemia as an Atypical Presentation of Pheochromocytoma in Neurofibromatosis Type 1.
CureusMulticentric 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 cancerKinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer.
NPJ precision oncologyAn Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.
Diseases (Basel, Switzerland)Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.
The Journal of clinical endocrinology and metabolismGenomic testing for RET in the clinic: UK and global perspective.
Endocrine-related 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 cancerThyroid C-Cell Biology and Oncogenic Transformation.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerHistopathology of C Cells and Medullary Thyroid Carcinoma.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerWhat Is New in Diagnostics and Management of Medullary Thyroid Carcinoma.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerRET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study.
CancersMedullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.
Frontiers in oncologyPrevalence of the major thyroid cancer-associated syndromes in the United States.
medRxiv : the preprint server for health sciencesMechanisms of resistance to RET-directed therapies.
Endocrine-related cancerEfficacy and Safety of Selective RET Inhibitors in Patients with Advanced Hereditary Medullary Thyroid Carcinoma.
Thyroid : official journal of the American Thyroid AssociationEndocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.
Clinics and practicePregnancy After Beating Thyroid Cancer: A Case Series.
CureusMultiple linear papules in a 68-year-old man.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGA Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.
CureusMolecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2.
World journal of clinical casesLiving with a RET gene mutation: patient perspectives.
Endocrine-related cancerAnesthesia Management in Hereditary Pheochromocytoma and Paraganglioma: Updated Insights into Clinical Features and Perioperative Care.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chihPheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features.
BiomedicinesCellular mechanisms of RET receptor dysfunction in multiple endocrine neoplasia 2.
Endocrine-related cancerGenotype/phenotype correlations in multiple endocrine neoplasia type 2.
Endocrine-related cancerNursing care during management of recurrent pheochromocytoma: A case study.
Nursing in critical careThyroid 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 internationalMEN2 phenotype in a family with germline heterozygous rare RET K666N variant.
Endocrinology, diabetes & metabolism case reportsMedullary Thyroid Carcinoma: A Unique Case Report.
CureusGanglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) - case report.
Annals of agricultural and environmental medicine : AAEMCritically 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 cancerA comparative analysis of surgically excised hereditary and sporadic pheochromocytomas: Insights from a single-center experience.
The Kaohsiung journal of medical sciencesA case report of multiple endocrine neoplasia type 2B.
Annals of medicine and surgery (2012)Clinical Activity of Selpercatinib in RET-mutant Pheochromocytoma.
The Journal of clinical endocrinology and metabolismManagement of Type 2 Diabetes Mellitus With Noninsulin Pharmacotherapy.
American family physicianCurrent prospects of hereditary adrenal tumors: towards better clinical management.
Hereditary cancer in clinical practiceAccelerated MEN2A in homozygous RET carriers in the context of consanguinity.
European journal of endocrinologyRET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.
American journal of medical genetics. Part AMultiple endocrine neoplasia type 2 - solving the puzzle.
Journal of family medicine and primary careDoes Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?
CancersSimultaneous Occurrence of Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma: A Case Series with Literature Review.
Current oncology (Toronto, Ont.)Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.
Frontiers in endocrinologyMultiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.
Current opinion in oncology[Surgical treatment of pheochromocytoma].
Problemy endokrinologiiMolecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.
CancersClinical presentation of MEN 2A in index vs. non-index patients.
EndocrineRET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
Life (Basel, Switzerland)Adefovir Dipivoxil as a Therapeutic Candidate for Medullary Thyroid Carcinoma: Targeting RET and STAT3 Proto-Oncogenes.
CancersSimultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.
Frontiers in surgeryGenetic Study in Pheochromocytoma: Is It Possible to Stratify the Risk of Hereditary Pheochromocytoma?
NeuroendocrinologyRET aberrant cancers and RET inhibitor therapies: Current state-of-the-art and future perspectives.
Pharmacology & therapeuticsProgressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome.
IJU case reports[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 mutationSynchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report.
Journal of kidney cancer and VHLA Case Study of Multiple Endocrine Neoplasia Type 2A.
CureusElevated Calcitonin Levels in a Patient With a Pheochromocytoma: A Case Report.
The American surgeonManagement of medullary carcinoma of the thyroid: a review.
The Journal of international medical researchMEN2B Masquerading as Postural Orthostatic Tachycardia Syndrome.
JACC. Case reportsPsychosocial Characteristics and Experiences in Patients with Multiple Endocrine Neoplasia Type 2 (MEN2) and Medullary Thyroid Carcinoma (MTC).
Children (Basel, Switzerland)Pheochromocytoma 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 receptor signaling: Function in development, metabolic disease, and cancer.
Proceedings of the Japan Academy. Series B, Physical and biological sciencesMultiple endocrine neoplasia 2: an overview.
Therapeutic advances in chronic diseaseCancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
International journal of clinical oncologyMale gender as a poor prognostic factor in medullary thyroid carcinoma: behavior or biological difference?
Minerva endocrinologyGermline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Frontiers in endocrinologyClinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).
The Korean journal of internal medicine[Medullary thyroid carcinoma: current clinical progress].
Deutsche medizinische Wochenschrift (1946)Laparoscopic 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 reportsTreatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma.
European journal of cancer (Oxford, England : 1990)Pheochromocytoma as a rare hypertensive complication rarely associated with pregnancy: Diagnostic difficulties (Review).
Experimental and therapeutic medicineCalcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents.
Journal of pediatric endocrinology & metabolism : JPEMMedullary thyroid carcinoma with diabetic ketoacidosis: an autopsy case report and literature review.
Forensic science, medicine, and pathologySurgical 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 journalProcalcitonin measured by three different assays is an excellent tumor marker for the follow-up of patients with medullary thyroid carcinoma.
Clinical chemistry and laboratory medicineAcute coronary syndrome: Uncommon presentation of multiple endocrine neoplasia.
International journal of surgery case reportsSpectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.
BMC cancerMultiple endocrine neoplasia type 2: A review.
Seminars in cancer biology[A young male with multiple endocrine neoplasia type 2 misdiagnosed as viral myocarditis].
Zhonghua xin xue guan bing za zhiPheochromocytoma in Multiple Endocrine Neoplasia Type 2.
Mayo Clinic proceedingsMultiple endocrine neoplasia type 2B: A report of a rare case.
Journal of oral and maxillofacial pathology : JOMFPHomozygosity 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 cancerDiagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
Clinical endocrinologyRuptured functioning adrenal tumour, atypical presentation with renal colic and hypertension.
BMJ case reportsUpdates in the advances of sporadic medullary thyroid carcinoma: from the molecules to the clinic.
Gland surgeryPositron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal?
Thyroid : official journal of the American Thyroid AssociationImpact of gastrointestinal symptoms on quality of life in MEN2.
Clinical endocrinologyRoles of the RET Proto-oncogene in Cancer and Development.
JMA journal[Surgical aspects of multiple endocrine neoplasia type 2].
Therapeutische Umschau. Revue therapeutiqueA 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 endocrinologyA New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion.
Case reports in endocrinologyMedullary Thyroid Carcinoma in a Patient with MEN 1 Syndrome. Case Report and Literature Review.
OncoTargets and therapyThyroid surgery in 103 children in a single institution from 2000-2014.
Annals of Saudi medicineVandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations.
Journal of clinical research in pediatric endocrinology[Medullary thyroid carcinoma and multiple endocrine neoplasia type 2].
Deutsche medizinische Wochenschrift (1946)A Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype.
Thyroid : official journal of the American Thyroid AssociationHEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019.
Endocrine-related cancerA Proposed Grading Scheme for Medullary Thyroid Carcinoma Based on Proliferative Activity (Ki-67 and Mitotic Count) and Coagulative Necrosis.
The American journal of surgical pathologyVariability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.
Frontiers in endocrinologyMEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.
EndocrineUpdate on the Treatment of Medullary Thyroid Carcinoma in Patients with Multiple Endocrine Neoplasia Type 2.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeIdentifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors.
Journal of medical geneticsState-of-the-Art Strategies for Targeting RET-Dependent Cancers.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyA primer on the genetics of medullary thyroid cancer.
Current oncology (Toronto, Ont.)RET in breast cancer: pathogenic implications and mechanisms of drug resistance.
Cancer drug resistance (Alhambra, Calif.)Medullary thyroid carcinoma with double negative calcitonin and CEA: a case report and update of literature review.
BMC endocrine disordersRisk factors of post-surgery complications in children with thyroid cancer.
International journal of pediatric otorhinolaryngologyChildren are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy.
Journal of pediatric surgeryRET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.
Thyroid : official journal of the American Thyroid AssociationGermline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation.
Frontiers in geneticsSurgical Management of Multiple Endocrine Neoplasia 1 and Multiple Endocrine Neoplasia 2.
The Surgical clinics of North America[Large bowel ganglioneuromatosis associated with neurofibromatosis type 1].
Annales de pathologiePresent status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017.
Journal of pediatric endocrinology & metabolism : JPEMLong-Term Outcomes and Aggressiveness of Hereditary Medullary Thyroid Carcinoma: 40 Years of Experience at One Center.
The Journal of clinical endocrinology and metabolismQuality of Life and Coping in Multiple Endocrine Neoplasia Type 2.
Journal of the Endocrine SocietyCalcitonin measurement in pediatrics: reference ranges are gender-dependent, validation in medullary thyroid cancer and thyroid diseases.
Clinical chemistry and laboratory medicineGenotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
Endocrine connections[Familial medullary thyroid carcinoma: case report and literature review.].
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)[Genetics of pheochromocytoma and the relevance in surgery].
Der Chirurg; Zeitschrift fur alle Gebiete der operativen MedizenUpdate on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma.
Journal of the Endocrine SocietyUtilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience.
Journal of genetic counselingSecondary findings from next-generation sequencing: what does actionable in childhood really mean?
Genetics in medicine : official journal of the American College of Medical GeneticsA case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction.
Hormones (Athens, Greece)Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2.
The British journal of surgery[Molecular Targeted Therapies for Hereditary Cancer Syndrome].
Gan to kagaku ryoho. Cancer & chemotherapyConcurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1.
Endocrinology, diabetes & metabolism case reportsMedullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?
Hormones (Athens, Greece)Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease.
World journal of surgeryMultiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Journal of endocrinological investigationPreimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing.
Thyroid : official journal of the American Thyroid Association[A Case of Rectal Cancer with Multiple Endocrine Neoplasia Type 2].
Gan to kagaku ryoho. Cancer & chemotherapyNon-mammalian models of multiple endocrine neoplasia type 2.
Endocrine-related cancerNovel targeted therapeutics for MEN2.
Endocrine-related cancerThe evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2.
Endocrine-related cancerExtent of surgery for phaeochromocytomas in the genomic era.
The British journal of surgeryProphylactic thyroidectomies in MEN2 syndrome: Management and outcomes.
Journal of pediatric surgeryPathology and genetics of phaeochromocytoma and paraganglioma.
HistopathologyFunctional analysis of RET with multiple endocrine neoplasia type 2.
Journal of cancer research and therapeuticsStructure and function of RET in multiple endocrine neoplasia type 2.
Endocrine-related cancerPatient quality of life and prognosis in multiple endocrine neoplasia type 2.
Endocrine-related cancerDermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.
JAMA dermatologyDetection of early stage medullary thyroid carcinoma by measuring serum calcitonin using an electro chemiluminescence immuno-assay: A case report of a young Japanese woman with a high-risk RET mutation.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyPositive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene.
World journal of oncologyNationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Thyroid : official journal of the American Thyroid AssociationA large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.
Oncology lettersRET-mediated modulation of tumor microenvironment and immune response in multiple endocrine neoplasia type 2 (MEN2).
Endocrine-related cancerPerioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1.
SurgeryAdvances in risk-oriented surgery for multiple endocrine neoplasia type 2.
Endocrine-related cancerBilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report.
Journal of medical case reportsNo calcitonin change in a person taking dulaglutide diagnosed with pre-existing medullary thyroid cancer.
Diabetic medicine : a journal of the British Diabetic AssociationClinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.
Thyroid : official journal of the American Thyroid AssociationIs new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
Chinese journal of cancer research = Chung-kuo yen cheng yen chiuMedullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.
The Journal of clinical endocrinology and metabolismPhaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades.
Clinical endocrinologyGenetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes.
Endocrinology and metabolism clinics of North AmericaGenotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
Clinical medicine insights. Endocrinology and diabetesPRECISION MEDICINE: AN UPDATE ON GENOTYPE/BIOCHEMICAL PHENOTYPE RELATIONSHIPS IN PHEOCHROMOCYTOMA/PARAGANGLIOMA PATIENTS.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsFDOPA Patterns in Adrenal Glands: A Pictorial Essay.
Clinical nuclear medicineAssessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients.
Thyroid : official journal of the American Thyroid Association[The trends in early diagnosis and treatment strategies of multiple endocrine neoplasia type 2: practice, dilemma and prospective].
Zhonghua yi xue za zhiSearch of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationAnesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases.
The Indian journal of surgery[Study of Medullary Thyroid Carcinoma from a proband].
Archivos argentinos de pediatriaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Ainda não existe comunidade no Raras para Neoplasias endócrinas múltiplas tipo 2
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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.
- How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.
- Advanced disease and biochemical phenotype shift in multiple endocrine neoplasia type 2A-related pheochromocytoma.
- Systematic structure-based analysis of RET variants in MEN2A, Hirschsprung's disease, and their paradoxical co-occurrence.
- Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.
- 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:653(Orphanet)
- MONDO:0019003(MONDO)
- GARD:3830(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014243(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
