ANTONIO MARMO LUCON
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Cirurgia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
4 resultados
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- Development and internal validation of an adrenal cortical carcinoma prognostic score for predicting the risk of metastasis and local recurrence(2013) FREIRE, Daniel Soares; SIQUEIRA, Sheila Aparecida Coelho; ZERBINI, Maria Claudia Nogueira; WAJCHENBERG, Bernardo Leo; CORREA-GIANNELLA, Maria Lucia; LUCON, Antonio Marmo; PEREIRA, Maria Adelaide AlbergariaObjective To develop and internally validate a prognostic score to predict the risk of metastases or recurrence in patients with adrenal cortical carcinomas (ACC). Design Clinical, laboratory and pathological data from 129 ACC patients, treated in a tertiary centre, were retrospectively reviewed. Results Using a multivariate binary logistic regression analysis, we developed a prognostic score with five covariates: a functional pattern other than isolated hyperandrogenism, a tumour size >75cm, a primary tumour classified as T3/T4, the presence of microscopic venous invasion and a mitotic index >5/50 high-power fields. The prognostic score was calibrated according to the Hosmer-Lemeshow goodness-of-fit test (P=09329) and exhibited excellent overall performance (Brier score=00738). Finally, the discriminatory ability of the model, determined by the area under the ROC curve (A(ROC)), was near perfect (A(ROC), 09611; 95% CI, 092676-099552). The prediction model was internally validated with 200 bootstrap resamples and achieved excellent performance for estimating the risk of metastasis and recurrence in eight additional patients with apparently localized disease at diagnosis. Conclusion We developed and internally validated a prognostic score based on the clinicopathological data that are readily available to any attending physician. Our model can be used to accurately estimate the risk of unfavourable outcomes in ACC patients. This score could be beneficial for both patient counselling and the identification of patients in whom adjuvant mitotane is justified.
conferenceObject Clinical Features and Penetrance of Pheochromocytoma in a Large Family with a Germline TMEM127 Mutation(2014) LOURENCO, Delmar Muniz; TOLEDO, Rodrigo A.; SEKIYA, Tomoko; LUCON, Marmo; CASTRO, C. C.; BORTOLOTTO, L. A.; TOLEDO, Sergio P. A.; DAHIA, Patricia L.- Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation(2015) TOLEDO, Sergio P. A.; LOURENCO JR., Delmar M.; SEKIYA, Tomoko; LUCON, Antonio M.; BAENA, Marcos E. S.; CASTRO, Claudio C.; BORTOLOTTO, Luiz A.; ZERBINI, Maria C. N.; SIQUEIRA, Sheila A. C.; TOLEDO, Rodrigo A.; DAHIA, Patricia L. M.Context: The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined. Objective: This study aimed to investigate the penetrance, full phenotypic spectrum and effectiveness of clinical/genetic screening in TMEM127-related PHEO. Design, Setting, and Participants: Clinical and genetic screening, and genetic counseling were offered to 151 individuals from a six-generation family carrying a TMEM127 germline mutation in a referral center. Intervention and Main Outcome Measures: TMEM127 genetic testing was offered to at-risk relatives and clinical surveillance for pheochromocytoma was performed in mutation-positive carriers. Results: Forty seven individuals carried the c.410-2A>C TMEM127 mutation. Clinical data were obtained from 34 TMEM127-mutation carriers followed up for 8.7 +/- 8.1 years (range, 1-20 y). Pheochromocytoma was diagnosed in 11 carriers (32%) at a median age of 43 years. In nine patients, symptoms started at 29 years (range, 10-55 y) and two cases were asymptomatic. Tumors were multicentric in five (45%) and bilateral in five (45%) patients. Six patients (54%) had at least one adrenomedullary nodule less than 10 mm. No paragangliomas, distant metastases, or other manifestations were detected. Cumulative penetrance of pheochromocytoma was 0% at 0-20 years, 3% at 21-30 years, 15% at 31-40 years, 24% at 41-50 years, and 32% at 51-65 years. The youngest case was diagnosed at 22 years and the earliest symptoms were reported at age 10. Conclusions: Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related PHEO. The high penetrance of pheochromocytoma in this condition validates the benefits of genetic testing of at-risk relatives. We thus recommend that TMEM127 genetic testing should be offered to at-risk individuals at age 22 years and mutation carriers should undergo clinical surveillance annually.
- Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients(2012) FRAGOSO, Maria Candida B. V.; ALMEIDA, Madson Queiroz; MAZZUCO, Tania L.; MARIANI, Beatriz M. P.; BRITO, Luciana P.; GONCALVES, Talita Cardoso; ALENCAR, Guilherme A.; LIMA, Lorena de O.; FARIA, Andre M.; BOURDEAU, Isabelle; LUCON, Antonio M.; FREIRE, Daniel S.; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; LACROIX, Andre; LERARIO, Antonio M.Background: A recent microarray study identified a set of genes whose combined expression patterns were predictive of poor outcome in a cohort of adult adrenocortical tumors (ACTs). The difference between the expression values measured by qRT-PCR of DLGAP5 and PINK1 genes was the best molecular predictor of recurrence and malignancy. Among the adrenocortical carcinomas, the combined expression of BUB1B and PINK1 genes was the most reliable predictor of overall survival. The prognostic and molecular heterogeneity of ACTs raises the need to study the applicability of these molecular markers in other cohorts. Objective: To validate the combined expression of BUB1B, DLGAP5, and PINK1 as outcome predictor in ACTs from a Brazilian cohort of adult and pediatric patients. Patients and methods: BUB1B, DLGAP5, and PINK1 expression was assessed by quantitative PCR in 53 ACTs from 52 patients - 24 pediatric and 28 adults (one pediatric patient presented a bilateral asynchronous ACT). Results: DLGAP5 PINK1 and BUB1B PINK1 were strong predictors of disease-free survival and overall survival, respectively, among adult patients with ACT. In the pediatric cohort, these molecular predictors were only marginally associated with disease-free survival but not with overall survival. Conclusion: This study confirms the prognostic value of the combined expression of BUB1B, DLGAP5, and PINK1 genes in a Brazilian group of adult ACTs. Among pediatric ACTs, other molecular predictors of outcome are required.