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  1 / 1191 MEDLINE  
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[PMID]:29397600
[Au] Autor:Weng Y; Xue SN; Zhang SL; Cheng H; Yan L
[Ad] Endereço:Department of Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China.
[Ti] Título:[A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations].
[So] Source:Zhonghua Nei Ke Za Zhi;57(2):134-137, 2018 Feb 01.
[Is] ISSN:0578-1426
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome. Here, two different RET proto-oncogen mutation were identified from family members of two MEN2A pedigrees by genetic screening. One RET mutations were found at codons 1893 and 1895 in exon 11 (1893-1895delCGA) from pedigree 1, which is a novel mutation, the other occurs at codon 634 (Cys634Arg) in exon 11 from pedigree 2. However, the clinical characteristics were similar in the patients of the two pedigrees. All the patients were in middle-age at onset. Most of them were firstly diagnosed with bilateral adrenal pheochromocytoma with different degrees of thyroid abnormalities (elevated serum calcitonin with or without thyroid mass, or had been diagnosed with medullary thyroid carcinoma). Some family members were with elevated serum parathyroid hormone but with no other evidences for hyperparathyroidism.
[Mh] Termos MeSH primário: Neoplasias das Glândulas Suprarrenais/diagnóstico
Neoplasia Endócrina Múltipla Tipo 2a/genética
Mutação
Feocromocitoma/diagnóstico
Proteínas Proto-Oncogênicas c-ret/genética
[Mh] Termos MeSH secundário: Neoplasias das Glândulas Suprarrenais/genética
Carcinoma Neuroendócrino/diagnóstico
Carcinoma Neuroendócrino/genética
Éxons
Seres Humanos
Meia-Idade
Neoplasia Endócrina Múltipla Tipo 2a/patologia
Linhagem
Feocromocitoma/genética
Mutação Puntual
Neoplasias da Glândula Tireoide/diagnóstico
Neoplasias da Glândula Tireoide/genética
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180206
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1426.2018.02.010


  2 / 1191 MEDLINE  
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[PMID]:28609830
[Au] Autor:Voss RK; Feng L; Lee JE; Perrier ND; Graham PH; Hyde SM; Nieves-Munoz F; Cabanillas ME; Waguespack SG; Cote GJ; Gagel RF; Grubbs EG
[Ad] Endereço:Department of Surgical Oncology, University of Texas, MD Anderson Cancer Center, Houston, Texas 77030.
[Ti] Título:Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.
[So] Source:J Clin Endocrinol Metab;102(8):2807-2813, 2017 Aug 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: High-risk RET mutations (codon 634) are associated with earlier development of medullary thyroid carcinoma (MTC) and presumed increased aggressiveness compared with moderate-risk RET mutations. Objective: To determine whether high-risk RET mutations are more aggressive. Design: Retrospective cohort study using institutional multiple endocrine neoplasia type 2 registry. Setting: Tertiary cancer care center. Patients: Patients with MTC and moderate- or high-risk germline RET mutation. Intervention: None (observational study). Main Outcome Measures: Proxies for aggressiveness were overall survival (OS) and time to distant metastatic disease (DMD). Results: A total of 127 moderate-risk and 135 high-risk patients were included (n = 262). Median age at diagnosis was 42.3 years (range, 6.4 to 86.4 years; mean, 41.6 years) for moderate-risk mutations and 23.0 years (range, 3.7 to 66.8 years; mean, 25.6 years) for high-risk mutations (P < 0.0001). Moderate-risk patients had more T3/T4 tumors at diagnosis (P = 0.03), but there was no significant difference for N or M stage and no significant difference in OS (P = 0.40). From multivariable analysis for OS, increasing age [hazard ratio (HR), 1.05/y; 95% confidence interval (CI), 1.03 to 1.08], T3/T4 tumor (HR, 2.73; 95% CI, 1.22 to 6.11), and M1 status at diagnosis (HR, 3.93; 95% CI, 1.61 to 9.59) were significantly associated with worse OS but high-risk mutation was not (P = 0.40). No significant difference was observed for development of DMD (P = 0.33). From multivariable analysis for DMD, only N1 status at diagnosis was significant (HR, 2.10; 95% CI, 1.03 to 4.27). Conclusions: Patients with high- and moderate-risk RET mutations had similar OS and development of DMD after MTC diagnosis and therefore similarly aggressive clinical courses. High-risk connotes increased disease aggressiveness; thus, future guidelines should consider RET mutation classification by disease onset (early vs late) rather than by risk (high vs moderate).
[Mh] Termos MeSH primário: Carcinoma Neuroendócrino/genética
Neoplasia Endócrina Múltipla Tipo 2a/genética
Proteínas Proto-Oncogênicas c-ret/genética
Neoplasias da Glândula Tireoide/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Carcinoma Neuroendócrino/mortalidade
Carcinoma Neuroendócrino/patologia
Criança
Estudos de Coortes
Feminino
Genótipo
Mutação em Linhagem Germinativa
Seres Humanos
Masculino
Meia-Idade
Mutação
Metástase Neoplásica
Fenótipo
Prognóstico
Estudos Retrospectivos
Taxa de Sobrevida
Neoplasias da Glândula Tireoide/mortalidade
Neoplasias da Glândula Tireoide/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00317


  3 / 1191 MEDLINE  
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[PMID]:28186607
[Au] Autor:Zhang Y; Zheng X; Cheng L; Ma S
[Ad] Endereço:Department of Endocrinology and Metabolism, Huai'an Second People's Hospital, Huai'an, Jiangsu 223002, China. 13861587250@163.com.
[Ti] Título:[Clinical features and mutations of RET proto-oncogene in a pedigree affected with type 2A multiple endocrine neoplasia].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):106-109, 2017 Feb 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A). METHODS: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced. RESULTS: A missense mutation p.C634W was detected in 8 members from the family. Among them, 3 were diagnosed with pheochromocytoma, 1 with medullary thyroid carcinoma, 1 with medullary thyroid carcinoma and pheochromocytoma, 1 with medullary thyroid carcinoma and hyperparathyroidism. One member was found with thyroid enlargement but refused further examination, and another one was identified as carrier of the RET gene mutation. CONCLUSION: A p.C634W mutation has been detected in a family affected with MEN2A, in which most carriers have developed clinical symptoms. RET mutation detection should be routinely performed for families affected with MEN2A.
[Mh] Termos MeSH primário: Predisposição Genética para Doença/genética
Neoplasia Endócrina Múltipla Tipo 2a/genética
Mutação de Sentido Incorreto
Proteínas Proto-Oncogênicas c-ret/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Sequência de Bases
Carcinoma Medular/genética
Carcinoma Neuroendócrino/genética
Criança
Pré-Escolar
Éxons/genética
Saúde da Família
Feminino
Seres Humanos
Masculino
Meia-Idade
Linhagem
Feocromocitoma/genética
Análise de Sequência de DNA/métodos
Neoplasias da Glândula Tireoide/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.01.025


  4 / 1191 MEDLINE  
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[PMID]:28137737
[Au] Autor:Cunha LL; Lindsey SC; França MI; Sarika L; Papathoma A; Kunii IS; Cerutti JM; Dias-da-Silva MR; Alevizaki M; Maciel RM
[Ad] Endereço:Departments of Medicine.
[Ti] Título:Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.
[So] Source:Eur J Endocrinol;176(5):515-519, 2017 May.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the gene. A rare mutation in exon 8 (G533C) of , previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. PATIENTS AND METHODS: Twelve G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin. flanking microsatellite markers at chromosome 10q (D10S197, D10S196, D10S1652 and D10S537) were used. RESULTS: Genomic DNA analysis using these markers showed that many of these apparently unrelated individuals shared a common haplotype indicating a common ancestral origin. CONCLUSION: Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of gene originate from a common ancestor. Due to historical reasons, we speculate that the more plausible explanation for the origin of this mutation is in Greece.
[Mh] Termos MeSH primário: Efeito Fundador
Repetições de Microssatélites/genética
Neoplasia Endócrina Múltipla Tipo 2a/epidemiologia
Neoplasia Endócrina Múltipla Tipo 2a/genética
Mutação/genética
Proteínas Proto-Oncogênicas c-ret/genética
[Mh] Termos MeSH secundário: Adulto
Brasil/epidemiologia
Feminino
Grécia/epidemiologia
Seres Humanos
Masculino
Meia-Idade
Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170316
[Lr] Data última revisão:
170316
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-16-1021


  5 / 1191 MEDLINE  
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[PMID]:28099363
[Au] Autor:Liu Q; Tong D; Yuan W; Liu G; Yuan G; Lan W; Zhang D; Zhang J; Huang Z; Zhang Y; Jiang J
[Ad] Endereço:aDepartment of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, PR China bDepartment of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, PA.
[Ti] Título:Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.
[So] Source:Medicine (Baltimore);96(3):e5967, 2017 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics. Exome sequencing was performed on the 3 probands, and specific mutation in RET was further screened on each of the family members. RESULTS: Different mutations in the RET gene were identified: C634S in Family 1, C611Y in Family 2, and C634Y in Family 3. Proband 1 mainly showed pheochromocytoma with MTC, both medullary thyroid carcinoma and pheochromocytoma were seen in proband 2, and proband 3 showed medullary thyroid carcinoma. CONCLUSION: The genetic evaluation is strongly recommended for patients with a positive family history, early onset of age, or multiple sites of masses. If the results verified the mutations of RET gene, thyroidectomy should be undertaken as the guide for better prognosis.
[Mh] Termos MeSH primário: Neoplasia Endócrina Múltipla Tipo 2a/genética
Proteínas Proto-Oncogênicas c-ret/genética
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Grupo com Ancestrais do Continente Asiático/genética
China
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170119
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000005967


  6 / 1191 MEDLINE  
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[PMID]:27864651
[Au] Autor:Long KL; Etzel C; Rich T; Hyde S; Perrier ND; Graham PH; Lee JE; Hu MI; Cote GJ; Gagel R; Grubbs EG
[Ad] Endereço:Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX, 77030, USA.
[Ti] Título:All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients.
[So] Source:Fam Cancer;16(2):283-289, 2017 Apr.
[Is] ISSN:1573-7292
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Several guidelines for patients with multiple endocrine neoplasia 2A (MEN2A) take into account genotype and family history of medullary thyroid carcinoma (MTC) disease aggressiveness. We sought to determine if an association exists independent of genotype, which could provide important information for counseling MEN2A patients in management of their MTC. Pedigrees of patients with ≥5 family members with MEN2A were retrospectively reviewed. Analysis was performed among kindreds with the most frequently observed codon mutation (RET 634). Familial MTC disease aggressiveness was evaluated using: (1) mean age at diagnosis of MTC, (2) current mean age of carriers without MTC, (3) proportion of kindred with MTC with metastatic disease at diagnosis, (4) proportion of kindred with MTC with metastasis/death from MTC as worst outcome, and (5) proportion of kindred with disease progression. 170 affected patients from 12 different MEN2A kindreds met inclusion criteria. The number of affected family members available for study per kindred ranged from 8 to 43 individuals. A difference in mean age of MTC diagnosis was found in screened patients (p = 0.01); mean age of MTC-free patients did not differ (p = 0.93). No differences were noted among kindreds in disease stage at presentation, worst outcome, or progression; marked variation in these measures was noted within families. In conclusion, a difference in age of MTC diagnosis among different RET 634 kindreds was identified. In contrast, notable intra-familial variability in disease aggressiveness was observed. Based on these findings, we recommend counseling patients with codon 634 mutations that their MTC disease course cannot be predicted by that of their relatives.
[Mh] Termos MeSH primário: Carcinoma Medular/congênito
Neoplasia Endócrina Múltipla Tipo 2a/genética
Proteínas Proto-Oncogênicas c-ret/genética
Neoplasias da Glândula Tireoide/genética
Neoplasias da Glândula Tireoide/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Carcinoma Medular/genética
Carcinoma Medular/mortalidade
Carcinoma Medular/patologia
Aconselhamento
Análise Mutacional de DNA
Feminino
Genótipo
Mutação em Linhagem Germinativa
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
Neoplasia Endócrina Múltipla Tipo 2a/mortalidade
Neoplasia Endócrina Múltipla Tipo 2a/patologia
Mutação
Linhagem
Fenótipo
Estudos Prospectivos
Estudos Retrospectivos
Neoplasias da Glândula Tireoide/mortalidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161120
[St] Status:MEDLINE
[do] DOI:10.1007/s10689-016-9948-7


  7 / 1191 MEDLINE  
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[PMID]:27704398
[Au] Autor:Grey W; Hulse R; Yakovleva A; Genkova D; Whitelaw B; Solomon E; Diaz-Cano SJ; Izatt L
[Ad] Endereço:Cancer Genetics, Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK.
[Ti] Título:The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
[So] Source:Endocr Pathol;28(1):41-48, 2017 Mar.
[Is] ISSN:1559-0097
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland. He proceeded to thyroidectomy, which showed bilateral C-cell hyperplasia (CCH) without evidence of MTC. His brother had neonatal Hirschsprung disease (HSCR). Genetic testing revealed the presence of a heterozygous variant of unknown significance (VUS) in the cysteine-rich region of exon 10 in the RET gene (c.1846G>C, p.E616Q), in both affected siblings and their unaffected mother. Exon 10 RET mutations are known to be associated with HSCR and MEN2. Variants in the cysteine-rich region of the RET gene, outside of the key cysteine residues, may contribute to the development of MEN2 in a less aggressive manner, with a lower penetrance of MTC. Currently, a VUS in RET cannot be used to inform clinical management and direct future care. Analysis of RET reveals a gain of function mutant phenotype for this variant, which has not previously been reported, indicating that this VUS should be considered at risk for future clinical management.
[Mh] Termos MeSH primário: Neoplasia Endócrina Múltipla Tipo 2a/genética
Proteínas Proto-Oncogênicas c-ret/genética
[Mh] Termos MeSH secundário: Adulto
Western Blotting
Feminino
Seres Humanos
Masculino
Mutagênese Sítio-Dirigida
Mutação
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161006
[St] Status:MEDLINE
[do] DOI:10.1007/s12022-016-9451-6


  8 / 1191 MEDLINE  
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[PMID]:28276221
[Au] Autor:Boybeyi-Türer Ö; Vuralli D; Karnak I; Gönç N; Yalçin ES; Orhan D; Kandemir N; Tanyel FC
[Ad] Endereço:Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
[Ti] Título:Surgical and clinical strategies in the management of thyroid medullary carcinoma in children with and without ret proto-oncogene mutations.
[So] Source:Turk J Pediatr;58(4):436-441, 2016.
[Is] ISSN:0041-4301
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Medullary thyroid carcinoma (MTC) may arise sporadically or in familial manner. We presented sporadic and familial cases with MTC in order to raise awareness on management of such patients. Three medullary thyroid carcinoma (MTC) cases were presented. Case 1 had RET634 mutation; managed with total thyroidectomy (TT) and cervical lymph node dissection (CLND). Case 2 had RET804 mutation; managed with prophylactic TT. Case 3 had thyroid nodule; managed with TT and CLND. Case 1 had micro-carcinomatosis foci, Case 2 had normal thyroid tissue in histopathological examination and Case 3 had medullary thyroid carcinoma with tumor negative surgical borders. Case 1 was re-operated for persisting focus of disease. Follow-up of cases were uneventful. Clinicians and surgeons should be aware of critical timing for surgery and various surgical and clinical strategies in the management of MTC in children.
[Mh] Termos MeSH primário: Carcinoma Neuroendócrino/cirurgia
Neoplasia Endócrina Múltipla Tipo 2a/cirurgia
Proteínas Proto-Oncogênicas c-ret/genética
Neoplasias da Glândula Tireoide/cirurgia
Tireoidectomia/métodos
[Mh] Termos MeSH secundário: Adolescente
Criança
Seres Humanos
Excisão de Linfonodo/métodos
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170310
[St] Status:MEDLINE


  9 / 1191 MEDLINE  
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[PMID]:27899191
[Au] Autor:Petr EJ; Else T
[Ad] Endereço:Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Health System, Ann Arbor, MI.
[Ti] Título:Genetic predisposition to endocrine tumors: Diagnosis, surveillance and challenges in care.
[So] Source:Semin Oncol;43(5):582-590, 2016 Oct.
[Is] ISSN:1532-8708
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integrating shared patient decision-making at every step of surveillance, diagnosis, and treatment. In the absence of evidence-based guidelines, multiple aspects of patient care remain individualized, based on a patient's clinical presentation and family pedigree. This is particularly important when determining a surveillance plan for unaffected or disease-free mutation carriers. In this review, we describe the main endocrine tumor manifestations found in familial cancer syndromes in an organ-based approach, focusing on adrenocortical carcinoma, pheochromocytoma and paraganglioma, neuroendocrine tumors, differentiated thyroid cancer, and medullary thyroid cancer. We highlight the challenges in diagnosis, surveillance, and therapy unique to the patient population with hereditary syndromes. Furthermore, we underscore the importance of evaluating for genetic predisposition to tumor development, provide features that can identify index patients, and discuss the approach to screening surveillance for mutation carriers.
[Mh] Termos MeSH primário: Neoplasias das Glândulas Endócrinas/genética
Predisposição Genética para Doença
[Mh] Termos MeSH secundário: Neoplasias das Glândulas Endócrinas/diagnóstico
Seres Humanos
Neoplasia Endócrina Múltipla Tipo 2a/genética
Tumores Neuroendócrinos/genética
PTEN Fosfo-Hidrolase/genética
Feocromocitoma/genética
Succinato Desidrogenase/genética
Neoplasias da Glândula Tireoide/genética
Doença de von Hippel-Lindau/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 1.3.99.1 (Succinate Dehydrogenase); EC 3.1.3.67 (PTEN Phosphohydrolase); EC 3.1.3.67 (PTEN protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161201
[St] Status:MEDLINE


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[PMID]:27838608
[Au] Autor:Martins AF; Martins JM; do Vale S; Dias T; Silveira C; da Silva IR; Carmo-Fonseca M
[Ad] Endereço:Serviço de Endocrinologia, Hospital de Santa Maria, Lisboa, Portugal.
[Ti] Título:A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.
[So] Source:Hormones (Athens);15(3):435-440, 2016 Jul.
[Is] ISSN:1109-3099
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVE: Multiple Endocrine Neoplasia type 2 (MEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene. In the vast majority of patients, the mutations are localized in exons 10, 11 and 13-15 of the RET gene. Rare variants located in exon 8 were recently identified but their clinical significance remains unclear. DESIGN AND METHODS: We studied two sisters presenting with pheochromocytoma as the first tumor. One of the sisters was diagnosed with a right pheochromocytoma at the age of 44 and at age 53 she developed an invasive left pheochromocytoma with no other endocrine neoplasia. The other sister was diagnosed with a left pheochromocytoma at age 50 and at age 64 she had a right phemochromocytoma and MTC. Neither of the two sisters presented evidence of primary hyperparathyroidism. Mutations of the RET proto-oncogene were investigated by DNA sequencing. RESULTS: We detected a germline missense variant in RET exon 8 (p.Cys531Arg) in both sisters. The p.Cys531Arg variant was not present in a third 50-year-old sister who has remained to date clinically unaffected. CONCLUSION: This is the first case showing the p.Cys531Arg variant in RET exon 8 co-segregating with family members affected by a syndrome reminiscent of MEN2A. Our results suggest that this variant has a specific genotype-phenotype correlation as it is associated with the development of pheochromocytoma before the onset of MTC.
[Mh] Termos MeSH primário: Neoplasias das Glândulas Suprarrenais/genética
Carcinoma Medular/congênito
Éxons
Neoplasia Endócrina Múltipla Tipo 2a/genética
Mutação de Sentido Incorreto
Feocromocitoma/genética
Proteínas Proto-Oncogênicas c-ret/genética
Neoplasias da Glândula Tireoide/genética
[Mh] Termos MeSH secundário: Neoplasias das Glândulas Suprarrenais/diagnóstico
Neoplasias das Glândulas Suprarrenais/enzimologia
Neoplasias das Glândulas Suprarrenais/terapia
Adulto
Carcinoma Medular/diagnóstico
Carcinoma Medular/enzimologia
Carcinoma Medular/genética
Carcinoma Medular/terapia
Análise Mutacional de DNA
Feminino
Predisposição Genética para Doença
Seres Humanos
Hiperparatireoidismo Primário/diagnóstico
Hiperparatireoidismo Primário/enzimologia
Hiperparatireoidismo Primário/genética
Meia-Idade
Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico
Neoplasia Endócrina Múltipla Tipo 2a/enzimologia
Neoplasia Endócrina Múltipla Tipo 2a/terapia
Linhagem
Fenótipo
Feocromocitoma/diagnóstico
Feocromocitoma/enzimologia
Feocromocitoma/terapia
Portugal
Neoplasias da Glândula Tireoide/diagnóstico
Neoplasias da Glândula Tireoide/enzimologia
Neoplasias da Glândula Tireoide/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170417
[Lr] Data última revisão:
170417
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161114
[St] Status:MEDLINE
[do] DOI:10.14310/horm.2002.1691



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