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1.
J Clin Endocrinol Metab ; 106(9): e3582-e3591, 2021 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-33974051

RESUMO

CONTEXT: Long-term data are scarce on large cohorts with sporadic (sMTC) and hereditary medullary thyroid carcinoma (hMTC). OBJECTIVES: To compare long-term disease-specific survival (DSS) and outcomes between sMTC and hMTC groups. DESIGN: Retrospective analysis. SETTING: German tertiary referral center. PATIENTS: A total of 673 patients with MTC that underwent surgery from January 1974 to July 2019. INTERVENTION: None (observational study). MAIN OUTCOME MEASURE: Differences between sMTC and hMTC in long-term, stage-dependent survival and outcomes. RESULTS: Surgery was performed at median ages of 49 years for sMTC (n = 477, 44% male) and 29 years for hMTC (n = 196, 43% male; P < 0.0001). The mean follow-up times were 9.2 ± 8.0 (sMTC) and 14.6 ± 10.3 years (hMTC). Age and tumor stage at diagnosis were significantly different between the 2 groups (P < 0.0001). The sMTC and hMTC groups had different overall DSS (log rank, P = 0.0183), but similar stage-dependent DSS (log rank, P = 0.1242-0.8981). In a multivariate analysis, sMTC and hMTC did not differ in DSS (hazard ratio [HR] = 1.56; 95% CI, 0.94-2.57), but in both groups, a worse DSS was significantly associated with age at diagnosis (HR = 1.04; 95% CI, 1.02-1.05), male sex (HR = 0.49; 95% CI, 0.32-0.76), and stages III and IV at diagnosis (HR = 20.00; 95% CI, 2.74-145.91 and HR = 97.47; 95% CI, 13.07-726.67, respectively). The groups had significantly different (P < 0.0001) outcomes (i.e., cured, minimal residual disease, structural detectable disease, and death), but similar stage-dependent outcomes (P = 0.9449-0.0511), except for stage III (P = 0.0489). CONCLUSION: Patients with sMTC and hMTC had different ages of onset, but similar stage-dependent DSS and outcomes after the MTC diagnosis. This finding suggested that tumor behavior was similar in sMTC and hMTC.


Assuntos
Carcinoma Medular/congênito , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Carcinoma Medular/genética , Carcinoma Medular/mortalidade , Carcinoma Medular/cirurgia , Criança , Pré-Escolar , Feminino , Seguimentos , Alemanha/epidemiologia , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/genética , Estadiamento de Neoplasias , Estudos Retrospectivos , Fatores Sexuais , Análise de Sobrevida , Neoplasias da Glândula Tireoide/genética , Tireoidectomia , Resultado do Tratamento , Adulto Jovem
2.
Thyroid ; 31(4): 616-626, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33108969

RESUMO

Background: Medullary thyroid cancer (MTC) can be associated with significant morbidity and mortality in advanced cases. Hence, we aimed to identify factors at the time of MTC surgery that predict overall survival (OS), disease-specific survival (DSS), locoregional recurrence/persistence (LR), and distant metastases (DM). Methods: We performed a retrospective study of clinicopathologic, radiological, and laboratory data in MTC patients who underwent thyroidectomy at Mayo Clinic from January 1995 to December 2015. Results: We identified 163 patients (mean age 48.4 years, 48% males), 102 with sporadic MTC and 61 with hereditary disease (n = 46 multiple endocrine neoplasia [MEN] 2A, n = 3 MEN 2B, n = 12 familial MTC) with a median follow-up time of 5.5 years. On univariate analysis, age >55 years, male sex, DM at the time of surgery (M1), lateral neck lymph node (LN) involvement (N1b), gross extrathyroidal extension (ETE), American Joint Committee on Cancer (AJCC) stage 3/4, tumor size (T) 3/4, tumor size, and postoperative calcitonin (Ctn) and carcinoembryonic antigen (CEA) were significant predictors of worse OS and DSS. On multivariable analysis, both gross ETE (hazard ratio [HR] 4.62, 6.58) and M1 (HR 5.11, 10.45) remained significant predictors of worse OS as well as DSS, while age >55 years (HR 3.21), male sex (HR 2.42), and postoperative Ctn (HR 1.002 for every 100 pg/mL increase) were significant only for worse OS. On univariate analysis, male sex, M1, N1b, gross ETE, stage 3/4, T 3/4, tumor size, number of LNs involved, and postoperative Ctn were significant predictors of LR and DM; age >55 years was additionally significant for DM. On multivariable analysis, gross ETE (HR 3.16, 5.93) and N1b (HR 4.31, 4.64) remained significant predictors of LR and DM; ratio of resected/involved LN (HR 10.91) was additionally predictive for LR and postoperative Ctn (HR 1.003 for every 100 pg/mL increase) for DM. Conclusions: Disease burden at initial surgery, especially gross ETE, lateral neck LN involvement, and DM, as well as the biochemical response to surgery appear to be more important than demographic factors in terms of MTC prognosis. These findings highlight the importance of rigorous perioperative assessment to better predict MTC outcomes.


Assuntos
Carcinoma Medular/cirurgia , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Adulto , Idoso , Carcinoma Medular/congênito , Carcinoma Medular/mortalidade , Carcinoma Medular/secundário , Bases de Dados Factuais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/secundário , Recidiva Local de Neoplasia , Intervalo Livre de Progressão , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia/efeitos adversos , Tireoidectomia/mortalidade , Fatores de Tempo
3.
Pediatr Blood Cancer ; 67(4): e28171, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31925938

RESUMO

BACKGROUND: Medullary thyroid carcinomas (MTC) account for 3% to 5% of all thyroid cancers. In most cases, MTC is hereditary and occurs as part of the multiple endocrine neoplasia (MEN) type 2A and 2B syndromes. There is a strong genotype-phenotype correlation associated with the respective RET mutations, making risk-adapted management possible. PROCEDURE: We report the prospectively collected data on children and adolescents of the multicenter nonrandomized German GPOH-MET registry. Children and adolescents with MTC and C-cell hyperplasia (CCH) were included. RESULTS: From 1997 to June 2019, a total of 57 patients with MTC and 17 with CCH were reported. In patients with MTC, median follow-up was five years (range, 0-19) and median age at diagnosis 10 years (range, 0-17). Overall survival and event-free survival (EFS) were 87% and 52%, respectively. In total 96.4% of patients were affected by MEN2 syndromes, which was in 37/42 MEN2A and 3/28 MEN2B (M918T mutation) inherited. EFS in MEN2A was 78%, and in MEN2B 38% (P < 0.001). In multivariate analyses, lymph node (LN) status and postoperatively elevated calcitonin were significant prognostic factors for EFS. Notably, modest-risk mutation carriers presented with MTC at a rather young age, without raised calcitonin, and LN metastases. CONCLUSIONS: Identification of children carrying de novo RET M918T mutations by means of the characteristic phenotype is crucial to detect MTC at an early stage, which will be associated with improved survival. As calcitonin levels may be false-negative and modest-risk mutation carriers present with a variable phenotype, particular attention should be paid to these children.


Assuntos
Carcinoma Neuroendócrino , Genótipo , Neoplasia Endócrina Múltipla Tipo 2a , Neoplasia Endócrina Múltipla Tipo 2b , Mutação , Sistema de Registros , Neoplasias da Glândula Tireoide , Adolescente , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/patologia , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Neoplasia Endócrina Múltipla Tipo 2b/genética , Neoplasia Endócrina Múltipla Tipo 2b/mortalidade , Neoplasia Endócrina Múltipla Tipo 2b/patologia , Estudos Prospectivos , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/patologia
4.
J Clin Endocrinol Metab ; 104(10): 4264-4272, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31145454

RESUMO

CONTEXT: Recent data on long-term outcomes and aggressiveness of medullary thyroid carcinoma (MTC) are lacking for patients with multiple endocrine neoplasia type 2 (MEN2). OBJECTIVES: To analyze the long-term outcomes in MEN2 and compare MTC aggressiveness in three defined RET mutation-risk categories: moderate risk (MOD), high risk (H), and highest risk (HST). DESIGN, SETTING: Retrospective study of 263 operated patients with MEN2 from one German tertiary referral center from 1979 to 2017 comparing demographic, biochemical, genetic, and outcome parameters. INTERVENTION: None (observational study). MAIN OUTCOME MEASURE: Long-term survival and outcomes in three risk groups. RESULTS: Surgery was performed at a mean age of 35.3 ± 18.8 (MOD, n = 122), 23.0 ± 15.7 years (H, n = 120), and 14.9 ± 9.3 (HST, n = 21) years (P < 0.05). The mean follow-up was 12.9 ± 9.8 years. Age and tumor stage at diagnosis differed among the three risk groups (P < 0.0001). Multivariate analysis of disease-specific survival (DSS) showed that increasing age [hazard ratio (HR), 1.06; 95% CI, 1.02 to 1.09], stage III/IV at diagnosis (HR, 7.39; 95% CI, 2.39 to 22.8), and HST group (HR, 14.4; 95% CI, 3.32 to 62.6) were significantly associated with worse DSS; the H group was not (P = 0.175). The DSS rates and outcomes were not different between the MOD and H groups (P = 0.179 and P = 0.893, respectively) but were significantly inferior in the HST group (P < 0.0008 and P < 0.0001, respectively). CONCLUSION: MTC in patients with MEN2 showed a clearly different age of onset in the different risk groups. DSS and outcomes after MTC diagnosis were similar in the MOD and H groups, suggesting similar tumor behavior. The HST group had inferior outcomes and survival vs the MOD and or H groups.


Assuntos
Carcinoma Medular/congênito , Carcinoma Neuroendócrino/patologia , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/patologia , Adolescente , Adulto , Carcinoma Medular/mortalidade , Carcinoma Medular/patologia , Carcinoma Medular/cirurgia , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/cirurgia , Criança , Estudos de Coortes , Suscetibilidade a Doenças , Intervalo Livre de Doença , Feminino , Seguimentos , Alemanha , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Análise Multivariada , Mutação , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Medição de Risco , Análise de Sobrevida , Centros de Atenção Terciária , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Tireoidectomia/mortalidade , Fatores de Tempo , Adulto Jovem
5.
Eur J Endocrinol ; 181(1): 13-21, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31048559

RESUMO

OBJECTIVE: Multiple clinical, pathological and biochemical variables, including the response to initial treatment, are associated with medullary thyroid carcinoma (MTC) prognosis. Studies that include separate analyses of familial and sporadic MTC patients followed for long period are scarce. This study evaluated the association between baseline clinico-pathologic variables and response to initial treatment and short- and long-term disease outcomes in sporadic and familial MTC. METHODS: Patients treated for MTC at four tertiary medical centers were retrospectively analyzed. Clinical and pathological data were collected. The outcomes measured included disease persistence 1 year after diagnosis, disease persistence at last follow-up, disease-related mortality (DRM) and all-cause mortality. RESULTS: The study enrolled 193 patients (mean age: 48.9 ± 18.7, 44.7% males), of whom 18.1% were familial cases. The mean follow-up period was 10.1 ± 9.4 years (8.5 ± 8.1 in sporadic and 16.9 ± 11.6 in familial MTC). Disease persistence 1-year after diagnosis and at last follow-up was detected in 56.1 and 60.4% patients, respectively. All-cause and DRM were 28.5 and 12.6%, respectively. Extra-thyroidal extension (ETE) and distant metastases (DM) were associated with disease persistence at last follow-up. ETE and DM were also significantly associated with DRM. Complete remission 1 year after diagnosis had high correlation with no evidence of disease at last follow-up (Cramer's V measure of association 0.884, P < 0.001) and with 100% disease-specific survival (Cramer's V measure of association 0.38, P < 0.001). CONCLUSIONS: Apart from clinico-pathologic parameters, close correlation was found between 1-year status and long-term prognosis. These results underscore the importance of combining classical and dynamic factors for both sporadic and familial MTC prognostication and treatment decision making.


Assuntos
Carcinoma Medular/congênito , Carcinoma Neuroendócrino/terapia , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Esvaziamento Cervical , Radioterapia Adjuvante , Neoplasias da Glândula Tireoide/terapia , Tireoidectomia , Adolescente , Adulto , Idoso , Carcinoma Medular/mortalidade , Carcinoma Medular/patologia , Carcinoma Medular/terapia , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/patologia , Causas de Morte , Intervalo Livre de Doença , Feminino , Humanos , Israel , Masculino , Pessoa de Meia-Idade , Mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Invasividade Neoplásica , Metástase Neoplásica , Prognóstico , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/patologia , Carga Tumoral , Adulto Jovem
6.
Thyroid ; 29(3): 368-377, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30618340

RESUMO

BACKGROUND: Survival of medullary thyroid carcinoma (MTC) subgroups in relation to the general population is poorly described. Data on the factors predicting long-term biochemical cure in MTC patients are nonexistent at a population level. A nationwide retrospective cohort study of MTC in Denmark from 1997 to 2014 was conducted, aiming to detect subgroups with survival similar to that of the general population and to identify prognostic factors for disease-specific survival and long-term biochemical cure. METHODS: The study included 220 patients identified from the nationwide Danish MTC cohort between 1997 and 2014. As a representative sample of the general population, a reference population matched 50:1 to the MTC cohort was used. RESULTS: Patients diagnosed with hereditary MTC by screening (hazard ratio [HR] = 1.5 [confidence interval (CI) 0.5-4.3]), patients without regional metastases (HR = 1.4 [CI 0.9-2.3]), and patients with stage I (HR = 1.3 [CI 0.6-3.1]), stage II (HR = 1.1 [CI 0.6-2.3]), and III (HR = 1.3 [CI 0.4-4.2]) disease had an overall survival similar to the reference population. On multivariate analysis, the presence of distant metastases (HR = 12.3 [CI 6.0-25.0]) predicted worse disease-specific survival, while the absence of regional lymph node metastases (odds ratio = 40.1 [CI 12.0-133.7]) was the only independent prognostic factor for long-term biochemical cure. CONCLUSIONS: Patients with hereditary MTC diagnosed by screening, patients without regional metastases, and patients with stages I, II, and III disease may have similar survival as the general population. The presence of distant metastases predicted worse disease-specific survival, while the absence of regional metastases predicted long-term biochemical cure.


Assuntos
Carcinoma Medular/congênito , Neoplasia Endócrina Múltipla Tipo 2a/epidemiologia , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/mortalidade , Adulto , Idoso , Carcinoma Medular/epidemiologia , Carcinoma Medular/mortalidade , Carcinoma Medular/terapia , Bases de Dados Factuais , Dinamarca/epidemiologia , Intervalo Livre de Doença , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/terapia , Resultado do Tratamento , Adulto Jovem
7.
Head Neck ; 41(1): 154-161, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30548085

RESUMO

BACKGROUND: Medullary thyroid carcinoma (MTC) has varying clinical course with familial cases (fMTC) diagnosed earlier than sporadic MTC (spMTC). METHODS: A total of 273 MTCs (familial: n = 110 [40.3%], males: 38.5%) were followed for 1-35 years (median 5.0 years). Fifty one of the familial cases were operated because of positive findings at genetic screening. Disease extent at diagnosis and follow-up was recorded. RESULTS: Mean age at diagnosis was: fMTC = 33.85 ± 16.5 years (range 4-74) and spMTC = 52.6 ± 14.0 years (range 16-81, P < .001). This difference remained when genetic screening cases were excluded. fMTCs had more frequently multifocality, smaller size, and more favorable stage at diagnosis (stages I and II: 60.9% vs 47.9%, stage III: 30.0% vs 23.9%, stage IV: 9.1% vs 28.9%, P = .01). fMTC had lower preoperative and postoperative calcitonin, more frequently remission (59.1% vs 47.2%) and less frequently progressive disease (8.2% vs 35.0%, P < .001). After excluding genetic screening cases, no difference in stage at diagnosis was observed. Outcome was more favorable in fMTC compared to sporadic (P = .002); the 10-year probability of lack of progression of disease differed significantly between fMTCs and spMTCs (86.4% vs 65.0%, P < .001). CONCLUSION: After excluding genetic screening cases, although stage at diagnosis is similar, disease outcome remains worse in sporadic compared to fMTCs.


Assuntos
Carcinoma Medular/congênito , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/terapia , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcitonina/sangue , Carcinoma Medular/mortalidade , Carcinoma Medular/patologia , Carcinoma Medular/terapia , Carcinoma Neuroendócrino/patologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Intervalo Livre de Progressão , Modelos de Riscos Proporcionais , Indução de Remissão , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia , Adulto Jovem
8.
World J Surg ; 42(2): 367-375, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29134313

RESUMO

BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare C cells-derived tumor, with a hardly predictable long-term prognosis. This study was aimed to evaluate the predictive factors of cure and survival after surgery for MTC in a monocentric series. METHODS: A retrospective analysis of the long-term outcomes was assessed in 255 MTC patients operated between 1980 and 2015 at Padua University hospital. RESULTS: Sporadic MTC occurred in 65.1% and hereditary MTC in 34.9% of patients. At a median follow-up of 93 months (range 7-430), the cure rate was 56.8%. The overall 10-year survival was 84.4%, and MTC-related death rate was 15.3%. Patients who died because of MTC had a median age of 61 years (range 21-84) and were at stages III-IV in all cases; deaths occurred in 18% of sporadic MTC, 6% of MEN2a and 66.7% of MEN2b patients. None of the patients at stages I-II died because of the disease, but 17.7% had persistent/recurrent disease. Based on univariate analysis, age, gender, genetic variant, extent and year of surgery, tumor size, lymph-nodal metastases and tumor stage significantly affected cure and survival rates. At multivariate analysis, only patient- and tumor-related features (age, lymph-nodal status and stage) remained significant independent prognostic factors. CONCLUSIONS: Radical surgery is the only chance of definitive cure in MTC, but it is possible only at early stage; in advanced stages, even extensive surgery could not grant cure and prolonged survival. Stage, nodal metastases and age remain the main predictive factors for cure and survival.


Assuntos
Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/cirurgia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Carcinoma Medular/congênito , Carcinoma Medular/mortalidade , Carcinoma Medular/cirurgia , Feminino , Seguimentos , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Fatores Sexuais , Taxa de Sobrevida , Adulto Jovem
9.
Fam Cancer ; 16(2): 283-289, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27864651

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.


Assuntos
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 , 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 , Humanos , Masculino , Pessoa de 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
10.
Lancet Oncol ; 15(6): 648-55, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24745698

RESUMO

BACKGROUND: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of phaeochromocytoma associated with multiple endocrine neoplasia type 2. METHODS: This multinational observational retrospective population-based study compiled data on patients with multiple endocrine neoplasia type 2 from 30 academic medical centres across Europe, the Americas, and Asia. Patients were included if they were carriers of germline pathogenic mutations of the RET gene, or were first-degree relatives with histologically proven medullary thyroid cancer and phaeochromocytoma. We gathered clinical information about patients'RET genotype, type of treatment for phaeochromocytoma (ie, unilateral or bilateral operations as adrenalectomy or adrenal-sparing surgery, and as open or endoscopic operations), and postoperative outcomes (adrenal function, malignancy, and death). The type of surgery was decided by each investigator and the timing of surgery was patient driven. The primary aim of our analysis was to compare disease-free survival after either adrenal-sparing surgery or adrenalectomy. FINDINGS: 1210 patients with multiple endocrine neoplasia type 2 were included in our database, 563 of whom had phaeochromocytoma. Treatment was adrenalectomy in 438 (79%) of 552 operated patients, and adrenal-sparing surgery in 114 (21%). Phaeochromocytoma recurrence occurred in four (3%) of 153 of the operated glands after adrenal-sparing surgery after 6-13 years, compared with 11 (2%) of 717 glands operated by adrenalectomy (p=0.57). Postoperative adrenal insufficiency or steroid dependency developed in 292 (86%) of 339 patients with bilateral phaeochromocytoma who underwent surgery. However, 47 (57%) of 82 patients with bilateral phaeochromocytoma who underwent adrenal-sparing surgery did not become steroid dependent. INTERPRETATION: The treatment of multiple endocrine neoplasia type 2-related phaeochromocytoma continues to rely on adrenalectomies with their associated Addisonian-like complications and consequent lifelong dependency on steroids. Adrenal-sparing surgery, a highly successful treatment option in experienced centres, should be the surgical approach of choice to reduce these complications.


Assuntos
Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasia Endócrina Múltipla Tipo 2a/complicações , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Feocromocitoma/cirurgia , Adolescente , Neoplasias das Glândulas Suprarrenais/etiologia , Neoplasias das Glândulas Suprarrenais/mortalidade , Adrenalectomia/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Intervalo Livre de Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Feocromocitoma/etiologia , Feocromocitoma/mortalidade , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
11.
J Clin Endocrinol Metab ; 98(11): E1813-9, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24030942

RESUMO

CONTEXT: Pheochromocytoma (PHEO) occurs in 50% of patients with multiple endocrine neoplasia type 2 (MEN2). It is unknown if the presence of PHEO is associated with more aggressive medullary thyroid cancer (MTC). OBJECTIVE: To present our experience with MEN2 PHEO and evaluate whether PHEO impacts MTC overall survival in patients with RET codon 634 mutations. DESIGN: We performed a retrospective chart review of MEN2 patients at MD Anderson Cancer Center from 1960 through 2012. PATIENTS: The study group comprised 85 patients (group 1) with MEN2-associated PHEO. Of these, 59 patients (subgroup 1) with RET codon 634 mutations were compared to 48 patients (group 2) with RET codon 634 mutations, but without MEN2-associated PHEO. MAIN OUTCOME MEASURES: Of 85 patients with MEN2 and PHEO, 70 had MEN2A and 15 had MEN2B. Median age at PHEO diagnosis was 32 years. The initial manifestation of MEN2 was MTC in 60% of patients, synchronous MTC and PHEO in 34%, and PHEO in 6% of patients. Of patients, 72% had bilateral PHEO, and most tumors were synchronous (82%). Subgroup analysis of MEN2 patients with and without PHEO, who were carriers of RET codon 634, the most common mutation with PHEO, showed no significant differences in the stage of MTC at initial diagnosis. The median follow-up time for patients with PHEO was 249 months and without PHEO was 67 months (P < .01). Survival analyses among RET 634 carriers did not show shorter survival for patients with PHEO. The median survival time for patients with PHEO was 499 months and without PHEO was 444 months (P < .05). CONCLUSIONS: PHEO in MEN2 patients are usually bilateral and unlikely to be metastatic. Subgroup analysis of patients with RET 634 mutations with and without PHEO showed that PHEO was not associated with a more advanced stage of MTC at diagnosis or a shorter survival.


Assuntos
Neoplasias das Glândulas Suprarrenais/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Feocromocitoma/mortalidade , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/mortalidade , Adolescente , Neoplasias das Glândulas Suprarrenais/genética , Adulto , Idade de Início , Carcinoma Neuroendócrino , Criança , Feminino , Seguimentos , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/genética , Mutação de Sentido Incorreto , Feocromocitoma/genética , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/genética , Adulto Jovem
12.
J Clin Endocrinol Metab ; 98(3): 1100-6, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23408574

RESUMO

BACKGROUND: It is generally accepted that pheochromocytoma is associated with an increased cardiovascular risk. This is however not based on studies with an appropriate control group of patients with essential hypertension. AIM OF THE STUDY: We examined whether patients with pheochromocytoma have an excess cardiovascular morbidity as compared to hypertensive patients. METHODS: In a retrospective case-control study we reviewed the medical charts of 109 pheochromocytoma patients for cardiovascular events within 5 years prior to the diagnosis. These patients were matched to control patients with essential hypertension for gender and year of birth and diagnosis. Outcome variables were ischemic heart disease, cerebrovascular accidents, and transient ischemic attacks. Classical cardiovascular risk factors were also assessed. RESULTS: A significantly higher rate of patients with pheochromocytoma suffered a cardiovascular event (13.8%; 95% confidence interval: 7.9%-21.6%) as compared to hypertensive patients (1.1%, 95% confidence interval: 0.1%-3.9%) (P < .001). Blood pressure level was lower in pheochromocytoma patients (153/91 ± 35/15 mm Hg) than in hypertensive patients (170/103 ± 18/8 mm Hg) (P < .001), even after correction for use of antihypertensive medication (P < .02). The difference in event rates could not be attributed to differences in other cardiovascular risk factors. CONCLUSIONS: Pheochromocytoma patients have a clearly higher rate of cardiovascular events than patients with essential hypertension. This cannot be attributed to differences in blood pressure or other cardiovascular risk factors. The most likely explanation for the excess event rate is the prolonged exposure to the toxic effects of tumoral catecholamines. These data underpin the importance of a timely diagnosis and treatment of pheochromocytoma.


Assuntos
Neoplasias das Glândulas Suprarrenais/mortalidade , Pressão Sanguínea , Epinefrina/sangue , Hipertensão/mortalidade , Norepinefrina/sangue , Feocromocitoma/mortalidade , Neoplasias das Glândulas Suprarrenais/sangue , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Hipertensão/sangue , Masculino , Pessoa de Meia-Idade , Morbidade , Neoplasia Endócrina Múltipla Tipo 2a/sangue , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2b/sangue , Neoplasia Endócrina Múltipla Tipo 2b/mortalidade , Feocromocitoma/sangue , Prevalência , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
13.
Klin Khir ; (7): 5-8, 2012 Jul.
Artigo em Ucraniano | MEDLINE | ID: mdl-23033768

RESUMO

Results of surgical treatment of 93 primary patients with medullary thyroid carcinoma within 1995-2009 years, including 26 (28%) - with hereditary disease (MEN2 syndrome) were analyzed. The best long-term results were observed in group of noninvasive tumor without metastases at the time of operation (39% - clinical and biochemical recovery, 32% - clinical remission). No one patient with extrathyroid tumor invasion and regional/distant metastases has completely recovered. Hereditary forms of disease are more aggressiveness in comparison with sporadic carcinomas with higher rate of distant metastases (31 and 21%) and worse survival. In sporadic group 3 (6%) patients and in hereditary group - 4 (12%) died from progression of distant metastases within 8-15 years after primary operation. Complete recovery was seen only after radical primary operations. Repeated surgery was palliative. Implementation of calcitonine screening and genetic testing for Ret-protooncogene mutation is an important task for Ukraine medicine to improve results of medullary carcinoma treatment.


Assuntos
Carcinoma Medular/secundário , Carcinoma Medular/cirurgia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Adulto , Idade de Início , Idoso , Carcinoma Medular/genética , Carcinoma Medular/mortalidade , Comorbidade , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/genética , Resultado do Tratamento
14.
Med Clin (Barc) ; 139(7): 277-83, 2012 Sep 22.
Artigo em Espanhol | MEDLINE | ID: mdl-22032817

RESUMO

BACKGROUND AND OBJECTIVE: To analyze the importance of various clinical, histopathological and immunohistochemical features in the prognosis of resected medullary thyroid carcinoma. PATIENTS AND METHODS: A total of 55 cases of medullary thyroid carcinoma consecutively operated were investigated. The data referring to clinical features were collected in the patient's clinical history. The histopathological and immunohistochemical features of the tumors were taken from their pathological anatomy report. RESULTS: Survival at one year was 96 ± 2%; at 5 years 91 ± 4%; at 10 years 88 ±6%; at 15 years 83 ± 7%; and at 20 years 61 ± 14%. Among epidemiological features, tumor type was significantly related with the disease (best familial prognosis; P=.035); among histopathological features, the presence of C cell hyperplasia and the presence of tumor necrosis had a significant relationship (P=.0005 and P=.039); among immunohistochemical features, positivity for p53 and for c-erb-b2 (P=.023 and P=.022); and finally, among staging data, TNM clinical staging (P=.015), size (P=.046) and the presence of distant metastases (P=.002). According to Cox's regression model, the only variables indicating a poor prognosis were: the existence of necrosis (P=.039; OR=6.513) and tumor size>4 cm (P=.027; OR=14.196). CONCLUSIONS: The survival rate was mainly determined by tumor size and the presence of tumor necrosis. None of the immunohistochemical markers had a significant influence on survival.


Assuntos
Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Adulto , Biomarcadores Tumorais/metabolismo , Carcinoma Medular/congênito , Carcinoma Medular/metabolismo , Carcinoma Medular/mortalidade , Carcinoma Medular/patologia , Carcinoma Medular/cirurgia , Carcinoma Neuroendócrino , Feminino , Humanos , Imuno-Histoquímica , Masculino , Neoplasia Endócrina Múltipla Tipo 2a/metabolismo , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Análise Multivariada , Necrose , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Neoplasias da Glândula Tireoide/metabolismo , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/patologia , Resultado do Tratamento , Carga Tumoral
15.
Curr Hypertens Rep ; 12(6): 456-64, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20938758

RESUMO

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis. Germline mutations were found in 100% of syndromic cases and in about 90% of patients with positive familial history. In nonsyndromic patients with apparently sporadic tumors, genetic mutations have been found in up to 27%, and genetic testing is now recommended for all patients with PHEOs and PGLs. Patients with syndromic lesions, a positive family history, or both should be tested for the appertaining gene. Recent discoveries have shown that the order of tested genes in nonsyndromic, nonfamilial cases can be based on histologic evaluation, location, and the biochemical phenotype of PHEOs and PGLs--the "rule of three." Identification of a gene mutation may lead to early diagnosis and treatment, regular surveillance, and a better prognosis for patients and their relatives.


Assuntos
Neoplasias das Glândulas Suprarrenais , Testes Genéticos , Neoplasia Endócrina Múltipla Tipo 2a , Feocromocitoma , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/mortalidade , Neoplasias das Glândulas Suprarrenais/terapia , Adulto , Doenças Assintomáticas/mortalidade , Catecolaminas/genética , Detecção Precoce de Câncer , Mutação em Linhagem Germinativa , Humanos , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/mortalidade , Feocromocitoma/terapia , Succinato Desidrogenase/genética , Taxa de Sobrevida , Resultado do Tratamento
16.
Surg Oncol Clin N Am ; 18(1): 39-52, viii, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19056041

RESUMO

Familial thyroid cancer accounts for 25% of medullary thyroid cancer (MTC) and 5% of non-medullary thyroid cancer. All patients who have familial MTC have one of three variants of multiple endocrine neoplasia type 2 that are defined by specific mutations in the rearranged during transfection (RET) proto-oncogene. Patients who have familial nonmedullary familial thyroid cancer most likely have a mutation that is autosomal dominant with reduced penetrance. Thyroid cancer also is associated with a number of familial syndromes. This article focuses on the genetics and management of familial thyroid cancers and the syndromes associated with thyroid cancer.


Assuntos
Neoplasia Endócrina Múltipla Tipo 2a/genética , Síndromes Neoplásicas Hereditárias/genética , Neoplasias da Glândula Tireoide/genética , Análise Mutacional de DNA , Testes Genéticos , Genótipo , Mutação em Linhagem Germinativa , Humanos , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/mortalidade , Síndromes Neoplásicas Hereditárias/cirurgia , Fenótipo , Proto-Oncogene Mas , Fatores de Risco , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia
17.
Expert Rev Anticancer Ther ; 8(4): 625-32, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18402529

RESUMO

Hereditary medullary thyroid carcinoma (MTC) is caused by specific autosomal dominant gain-of-function mutations in the RET proto-oncogene. Genotype-phenotype correlations exist that help predict the presence of other associated endocrine neoplasms as well as the timing of thyroid cancer development. MTC represents a promising model for targeted cancer therapy, as the oncogenic event responsible for initiating malignancy has been well characterized. The RET proto-oncogene has become the target for molecularly designed drug therapy. Tyrosine kinase inhibitors targeting activated RET are currently in clinical trials for the treatment of patients with MTC. This review will provide a brief overview of MTC and the associated RET oncogenic mutations, and will summarize the therapies designed to strategically interfere with the pathologic activation of the RET oncogene.


Assuntos
Carcinoma Medular/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/genética , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/genética , Carcinoma Medular/mortalidade , Carcinoma Medular/terapia , Genótipo , Humanos , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Neoplasia Endócrina Múltipla Tipo 2b/mortalidade , Neoplasia Endócrina Múltipla Tipo 2b/terapia , Mutação , Fenótipo , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret/antagonistas & inibidores , Proteínas Proto-Oncogênicas c-ret/metabolismo , Receptores Proteína Tirosina Quinases/antagonistas & inibidores , Receptores Proteína Tirosina Quinases/genética , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/terapia , Tireoidectomia
18.
Ann Surg ; 246(5): 815-21, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17968174

RESUMO

OBJECTIVE: Many patients with medullary thyroid carcinomas (MTC) have reoperative surgery in different hospitals, which makes their follow-up difficult. To comprehend these complex courses and to find relevant prognostic factors we report a 20-year single center experience of 289 patients with MTC or precursor C-cell-hyperplasias. PATIENTS AND METHODS: Between April 1986 and May 2006, 289 consecutive patients with MTC or MEN2 gene carriers were treated at the Department of Surgery at the University Hospital Düsseldorf. Tumor stages were documented according to the classification of the International Union against Cancer 5th edition, 1997 (Schott. Endocr Relat Cancer. 2006;13:779-795). A system to easily comprehend operative procedures is suggested. RESULTS: There were 159 female and 130 male patients (f/m ratio 1.22). Mean age at time of diagnosis was 32 years (4-77) in the familial cases and 53 years (23-84) years in the sporadic cases. Sixty-six patients (23%) had multifocal disease. Twelve MEN2-patients had only C-cell-hyperplasia (pT0). Tumor stage was pT1 in 86 patients, pT2 in 106 patients, pT3 in 25 patients, pT4 in 52 patients and unclear in 8 patients. In the 289 patients 648 operations were performed. One hundred seventy patients had more than 1 operation (59%). Ninety-nine patients (34%) are calcitonin-negative and 91 patients (31%) live with elevated calcitonin. Median follow-up time of the surviving 211 patients was 8.9 years (range, 0.3-30.7 years). The 5- and 10-year survival of all tumor patients was 86% and 68%, respectively. CONCLUSION: The chance to achieve biochemical cure in MTC is clearly dependent on the primary tumor size. The chance for long-term biochemical cure in a pT4-tumor is almost nil even after multiple and extended reoperations, whereas a pT1 tumor can be cured in up to 67% of the patients. Long-term survival, however, can be achieved even in pT4 tumor patients in almost 50%.


Assuntos
Carcinoma Medular/cirurgia , Neoplasia Endócrina Múltipla Tipo 2a/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcitonina/sangue , Carcinoma Medular/sangue , Carcinoma Medular/mortalidade , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/sangue , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/sangue , Neoplasias da Glândula Tireoide/mortalidade , Fatores de Tempo , Resultado do Tratamento
19.
Clin Transl Oncol ; 8(6): 435-43, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16790397

RESUMO

BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare development of thyroid cancer with a no negligible mortality rate. Our aim was to determine factors that predict outcome in patients with MTC. METHODS: We reviewed the records of all patients with MTC (n=56) who underwent treatment at our institution between January 1990 and December 2000. Univariate and multivariate analysis of clinicopathologic predictors of MTC outcome were performed to identify subsets of patients with different probabilities in terms of overall survival, local recurrence, and distant metastases. RESULTS: Multivariate analysis demonstrated that a statistically significant decrease in overall survival is associated with T4b tumours (p=0.06), the presence of distant metastases at the time of presentation (p=0.033), lymphatic invasion (p=0.099), and postoperative treatment (p=0.045). CONCLUSIONS: The analysis of survival curves of patients with MTC shows that the occurrence of locoregional and distant metastases occurs preferentially within the first 5 years, which identifies this as a crucial period for follow-up. In this series of patients with MTC, the tumours classified as T4b, metastases at presentation, the presence of lymphovascular invasion, and postoperative treatment were the most important prognostic features. At present, there is no available beneficial adjuvant therapy. However, as the development of molecular therapy progresses, it should be tested in clinical trials with the purpose of achievement of novel targeted therapies for selected MTC patients with risk factors.


Assuntos
Carcinoma Medular/mortalidade , Neoplasias da Glândula Tireoide/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/sangue , Calcitonina/sangue , Carcinoma Medular/sangue , Feminino , Seguimentos , Humanos , Excisão de Linfonodo/métodos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Análise Multivariada , Esvaziamento Cervical , Invasividade Neoplásica , Metástase Neoplásica , Recidiva Local de Neoplasia , Portugal/epidemiologia , Prognóstico , Análise de Sobrevida , Neoplasias da Glândula Tireoide/sangue , Tireoidectomia , Fatores de Tempo
20.
Medicina (Kaunas) ; 42(3): 215-24, 2006.
Artigo em Lituano | MEDLINE | ID: mdl-16607064

RESUMO

Multiple endocrine neoplasia (MEN) type 2A, or Sipple syndrome, is a rare autosomal dominantly inherited syndrome, which is characterized as combination of medullary thyroid carcinoma, pheochromocytoma, primary hyperparathyroidism, sometimes with rarer inherited disorders like Hirschsprung disease and cutaneous lichen amyloidosis. Syndrome is caused by germinative mutations in c-ret protooncogene, which are typical for different MEN 2 syndromes. We report a clinical case of MEN 2A. A 43-year-old female patient was operated on for pheochromocytoma 7 years after diagnosis and treatment of spread medullary thyroid carcinoma. This is the most common combination of MEN 2A tumors. Diagnosis was based upon clinical data, tumors combinations and analysis of inherited endocrine pathology in first-line relatives. This syndrome has already been diagnosed in Lithuania, but in the last decade after determining the genetic basis of MEN 2 and applying modern genetic examinations in clinical praxis, the strategy of diagnostics and prophylaxis of this syndrome has changed and survival prognosis for patients with this syndrome has improved. Conception of pathogenesis and clinical features of MEN 2A syndrome, genetic selection of inheritors of this syndrome is one more step in early cancer diagnosis, which allows to use cancer prevention measures in time, to apply effective treatment and improve patients' prognosis. Reporting this clinical case of MEN 2A we aimed to pay attention of general practitioners to this rare, but in Lithuania diagnosed too, syndrome and its clinic, diagnostic, and treatment features.


Assuntos
Neoplasias das Glândulas Suprarrenais , Carcinoma Medular , Neoplasia Endócrina Múltipla Tipo 2a , Feocromocitoma , Neoplasias da Glândula Tireoide , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Medular/diagnóstico , Carcinoma Medular/cirurgia , Terapia Combinada , Feminino , Humanos , Excisão de Linfonodo , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/mortalidade , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Linhagem , Feocromocitoma/diagnóstico , Feocromocitoma/diagnóstico por imagem , Feocromocitoma/genética , Feocromocitoma/cirurgia , Prognóstico , Radiografia Abdominal , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Ultrassonografia
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