HELAINE LAIZ SILVA CHARCHAR
Projetos de Pesquisa
Unidades Organizacionais
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
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- The effect of hormonal secretion on survival in adrenocortical carcinoma: A multi-center study(2024) SADA, Alaa; FOSTER, Trenton R.; AL-WARD, Ruaa; SAWANI, Sahar; CHARCHAR, Helaine; PISHDAD, Reza; BEN-SHLOMO, Anat; DY, Benzon M.; LYDEN, Melanie L.; BERGSLAND, Emily; JASIM, Sina; RAJ, Nitya; SHANK, Jessica B.; HAMIDI, Oksana; HAMRAHIAN, Amir H.; CHAMBO, Jose L.; SROUGI, Victor; FRAGOSO, Maria C. B. V.; GRAHAM, Paul H.; HABRA, Mouhammed Amir; BANCOS, Irina; MCKENZIE, Travis J.Background: Current evidence suggests that cortisol secreting adrenocortical carcinoma has worse prognosis compared to non-secreting adrenocortical carcinoma. However, the effect of other secretory subtypes is unknown.Methods: This multicenter study within the American-Australian-Asian Adrenal Alliance included adults with adrenocortical carcinoma (1997-2020). We compared overall survival and disease-free survival among cortisol secreting, mixed cortisol/androgen secreting, androgen secreting, and non-secreting adrenocortical carcinoma.Results: Of the 807 patients (mean age 50), 719 included in the secretory subtype analysis: 24.5% were cortisol secreting, 13% androgen secreting, 28% mixed cortisol/androgen, 32.5% non-secreting, and 2% were mineralocorticoid secreting. Median overall survival and disease-free survival for the entire cohort were 60 and 9 months, respectively.Median overall survival was 36 months for cortisol, 30 for mixed, 60 for androgen secreting, and 115 for non-secreting adrenocortical carcinoma, P < .01. Median disease-free survival was 7 months for cortisol, 8 for mixed, 10 for androgen, and 12 for non-secreting adrenocortical carcinoma, P 1/4 .06. On multivariable analysis of age, sex, Ki67%, secretory subtype, stage, resection, and adjuvant therapy, predictors of worse overall survival were older age, higher Ki67%, stage IV, mixed secreting, R1, and no adjuvant therapy, P < .05. On subgroup analysis of R0 resection, predictors of worse overall survival included older age and higher Ki67%. Ki67% >= 40, stage III and cortisol secretion were associated with worse disease-free survival.Conclusion: Mixed cortisol/androgen secreting adrenocortical carcinoma was associated with worse overall survival, while cortisol or androgen secreting alone were not. Notably, among patients after R0 resection, secretory subtype did not affect overall survival. Cortisol secreting adrenocortical carcinoma demonstrated worse disease-free survival. Ki67% remained a strong predictor of worse overall survival and disease-free survival independent of stage.(c) 2023 Elsevier Inc. All rights reserved.
- Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation(2019) FERREIRA, Amanda Meneses; BRONDANI, Vania Balderrama; HELENA, Vanessa Petry; CHARCHAR, Helaine Laiz Silva; ZERBINI, Maria Claudia Nogueira; LEITE, Luiz Antonio Senna; HOFF, Ana Oliveira; LATRONICO, Ana Claudia; MENDONCA, Berenice Bilharinho; DIZ, Maria Del Pilar Estevez; ALMEIDA, Madson Queiroz de; FRAGOSO, Maria Candida Barisson VillaresBackground: The TP53 p.R337H germline mutation is highly prevalent among children with adrenocortical tumors (ACTs) from South and Southeast Brazil. However, the prevalence of other tumors of the Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL) spectrum, the clinical outcomes and the potential tumor occurrence in relatives carrying this distinct TP53 mutation were not fully investigated. Patients and Methods: We investigated tumor profile data and outcomes of individuals and their close relatives with the TP53 p.R337H germline mutation. A questionnaire and the Toronto protocol were used for evaluation of asymptomatic carriers of this TP53 mutation. Results: The cohort of this study comprised 51 patients from 46 different families; 67% were female. All but one harbored the TP53 p.R337H mutation in heterozygous state; only one child was homozygous for this variant. Maternal allele inheritance occurred in 72% of the cases (p = 0,002). In pediatric group, ACT was the most common primary tumor at the diagnosis (55%; median age = 2 years). No patient of the pediatric group who initially presented with ACT developed a second primary tumor and 11% (n= 3) died due to complications related to the primary tumor (median follow-up time of 81.5 months, range = 3-378 months). In adult group, the main tumors at diagnosis were: adrenocortical carcinoma (ACC) (23%; median age= 29.5 years), breast cancer (12%; median age = 38.5 years), soft tissue sarcoma (8%; median age = 50.3 years) and choroid plexus carcinoma (CPC) (2%; median age= 18 years). Among adult patients who were diagnosed with ACC as the first primary tumor, all presented with aggressive disease as per histologic and clinical criteria at diagnosis, and 75% of patients died (median follow-up time of 19 months, range= 1-69 months). Five adult patients (22%) had a second primary tumor, including bronchoalveolar lung cancer (2 cases), ACC, uterine cervical carcinoma and fibrosarcoma. The diagnosis of these tumors was established from 8 to 36 months after the first primary tumor. Three families presented more than one case of ACT. Nine malignant neoplasms were diagnosed in asymptomatic carriers using Toronto protocol. Conclusions: This study confirms a high frequency of TP53 p.R337H mutation in pediatric group with ACT. In addition, we observed the occurrence of other tumors of LFS/LFL spectrum and a difference in the aggressiveness of ACTs depending on the age group in which they were diagnosed. The predominance of maternal mutated allele inheritance was first demonstrated in the affected Brazilian's families.
conferenceObject Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-up(2023) BACHEGA, Fernanda; SUARTZ, Caio; ALMEIDA, Madson; BRONDANI, Vania; CHARCHAR, Helaine; LACOMBE, Amanda; MARTINS-FILHO, Sebastiao; SOARES, Ibere; ZERBINI, Maria Claudia; DENES, Francisco; MENDONCA, Berenice; LOPES, Roberto; LATRONICO, Ana Claudia; FRAGOSO, Maria Candida