VICENTE ODONE FILHO
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
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- Nutritional status at diagnosis among children with cancer referred to a nutritional service in Brazil(2021) VIANI, Karina; BARR, Ronald D.; FILHO, Vicente Odone; LADAS, Elena J.Introduction: Children and adolescents with cancer are particularly vulnerable to malnutrition and require special attention on nutritional assessment. An adequate nutritional status during treatment is essential in reducing morbidity and mortality, being a modifiable risk factor for clinical outcomes. This study aims to determine the nutritional status of pediatric patients with cancer assessed by the nutrition team at diagnosis and evaluate its association with the overall survival. Method: This is a retrospective cross-sectional study of patients at the time of cancer diagnosis who had nutritional assessments when hospitalized or referred to the nutrition outpatient clinic. Nutritional status was classified by the mid-upper arm circumference (MUAC) and body mass index for age z-score (zBMI/A). The Cox regression analysis was used to determine the association between the nutritional status and overall survival, adjusting for gender, tumor group and age. Results: The study included 366 patients. The prevalence of undernutrition varied from 8 to 23% and overweight, from 5 to 20%. The MUAC identified more children as undernourished than the zBMI/A in patients with solid and hematological tumors. There was no significant difference in the overall survival by malnutrition classified by the zBMI/A (p = 0.1507) or MUAC (p = 0.8135). When adjusted for gender, tumor group and age, the nutritional status classification by the zBMI/A (hazard ratio [HR], 1.27; 95% confidence interval [CI], 0.88-1.83; p = 0.209) and MUAC (HR, 0.94; 95% CI, 0.61-1.44; p = 0.773) did not impact overall survival. Conclusion: The nutritional status at diagnosis did not significantly impact the overall survival, which suggests there may have been a protective effect by successful nutritional intervention during the subsequent care. (C) 2020 Associacao Brasileira de Hematologia, Hemoterapia e Terapia Celular.
- High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks(2022) TASIC, Ljubica; AVRAMOVIC, Natasa; JADRANIN, Milka; QUINTERO, Melissa; STANISIC, Danijela; MARTINS, Lucas G. G.; COSTA, Tassia Brena Barroso Carneiro; NOVAK, Estela; ODONE, Vicente; RIVAS, Maria; AGUIAR, Talita; CARRARO, Dirce Maria; CUNHA, Isabela Werneck da; COSTA, Cecilia Maria Lima da; MASCHIETTO, Mariana; KREPISCHI, AnaCancer is one of the leading causes of death in children and adolescents worldwide; among the types of liver cancer, hepatoblastoma (HBL) is the most common in childhood. Although it affects only two to three individuals in a million, it is mostly asymptomatic at diagnosis, so by the time it is detected it has already advanced. There are specific recommendations regarding HBL treatment, and ongoing studies to stratify the risks of HBL, understand the pathology, and predict prognostics and survival rates. Although magnetic resonance imaging spectroscopy is frequently used in diagnostics of HBL, high-resolution magic-angle-spinning (HR-MAS) NMR spectroscopy of HBL tissues is scarce. Using this technique, we studied the alterations among tissue metabolites of ex vivo samples from (a) HBL and non-cancer liver tissues (NCL), (b) HBL and adjacent non-tumor samples, and (c) two regions of the same HBL samples, one more centralized and the other at the edge of the tumor. It was possible to identify metabolites in HBL, then metabolites from the HBL center and the border samples, and link them to altered metabolisms in tumor tissues, highlighting their potential as biochemical markers. Metabolites closely related to liver metabolisms such as some phospholipids, triacylglycerides, fatty acids, glucose, and amino acids showed differences between the tissues.
- XAF1 as a modifier of p53 function and cancer susceptibility(2020) PINTO, Emilia M.; FIGUEIREDO, Bonald C.; CHEN, Wenan; GALVAO, Henrique C. R.; FORMIGA, Maria Nirvana; V, Maria Candida B. Fragoso; ASHTON-PROLLA, Patricia; RIBEIRO, Enilze M. S. F.; FELIX, Gabriela; COSTA, Tatiana E. B.; SAVAGE, Sharon A.; YEAGER, Meredith; I, Edenir Palmero; VOLC, Sahlua; SALVADOR, Hector; FUSTER-SOLER, Jose Luis; LAVARINO, Cinzia; CHANTADA, Guillermo; VAUR, Dominique; ODONE-FILHO, Vicente; BRUGIERES, Laurence; ELSE, Tobias; STOFFEL, Elena M.; MAXWELL, Kara N.; ACHATZ, Maria Isabel; KOWALSKI, Luis; ANDRADE, Kelvin C. de; PAPPO, Alberto; LETOUZE, Eric; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; ALMEIDA, Madson Q.; BRONDANI, Vania B.; BITTAR, Camila M.; SOARES, Emerson W. S.; MATHIAS, Carolina; RAMOS, Cintia R. N.; MACHADO, Moara; ZHOU, Weiyin; JONES, Kristine; VOGT, Aurelie; KLINCHA, Payal P.; SANTIAGO, Karina M.; KOMECHEN, Heloisa; PARAIZO, Mariana M.; PARISE, Ivy Z. S.; V, Kayla Hamilton; WANG, Jinling; RAMPERSAUD, Evadnie; CLAY, Michael R.; MURPHY, Andrew J.; LALLI, Enzo; NICHOLS, Kim E.; RIBEIRO, Raul C.; RODRIGUEZ-GALINDO, Carlos; KORBONITS, Marta; ZHANG, Jinghui; THOMAS, Mark G.; CONNELLY, Jon P.; PRUETT-MILLER, Shondra; DIEKMANN, Yoan; NEALE, Geoffrey; WU, Gang; ZAMBETTI, Gerard P.Cancer risk is highly variable in carriers of the common TP53-R337H founder allele, possibly due to the influence of modifier genes. Whole-genome sequencing identified a variant in the tumor suppressor XAF1 (E134*/Glu134Ter/rs146752602) in a subset of R337H carriers. Haplotype-defining variants were verified in 203 patients with cancer, 582 relatives, and 42,438 newborns. The compound mutant haplotype was enriched in patients with cancer, conferring risk for sarcoma (P = 0.003) and subsequent malignancies (P = 0.006). Functional analyses demonstrated that wild-type XAF1 enhances transactivation of wild-type and hypomorphic TP53 variants, whereas XAF1-E134* is markedly attenuated in this activity. We propose that cosegregation of XAF1-E134* and TP53-R337H mutations leads to a more aggressive cancer phenotype than TP53-R337H alone, with implications for genetic counseling and clinical management of hypomorphic TP53 mutant carriers.
conferenceObject BRAZILIAN NUTRITIONAL REGISTRY OF CHILDREN WITH CANCER(2022) VIANI, Karina; FILHO, Vicente Odone; MURRA, Mariana; OLIVEIRA JR., Wilson De; FERNANDES, Carolina; FERMAN, Sima; ALVES, Jullyana Da Rocha; MENDES, Mecneide; PORTO, Renata Nunes; GRUEZO, Nadia Dias; MAGALHAES, Isis; LIMA, Bruna; FIORI, Carmem Maria Costa; ALVARENGA, Mayara; AGUIRRE-NETO, Joaquim De; FONSECA, Teresa Cardoso; BARR, Ronald; LADAS, Elena- Partnership of the Sociedade Brasileira de Oncologia Pediátrica and International Society of Pediatric Oncology to improve nutritional care for children with cancer in Brazil(2017) VIANI, Karina; ODONE FILHO, Vicente; FERMAN, Sima; FONSECA, Teresa Cristina Cardoso; OLIVEIRA, Vanessa da Cunha; LEMOS, Priscila dos Santos Maia; BARR, Ronald D.; LADAS, Elena J.Abstract The authors present a proposal of a partnership between the Sociedade Brasileira de Oncologia Pediátrica (SOBOPE) and the International Society of Pediatric Oncology (SIOP) to promote the standardization and improvement of nutritional care of kids under cancer treatment in Brazil. The results of the first meeting in Brazil as well as plans for future meetings are described.
- Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways(2021) BARROS, Juliana Sobral; AGUIAR, Talita Ferreira Marques; COSTA, Silvia Souza; RIVAS, Maria Prates; CYPRIANO, Monica; TOLEDO, Silvia Regina Caminada; NOVAK, Estela Maria; ODONE, Vicente; CRISTOFANI, Lilian Maria; CARRARO, Dirce Maria; CUNHA, Isabela Werneck da; COSTA, Cecilia Maria Lima; VIANNA-MORGANTE, Angela M.; ROSENBERG, Carla; KREPISCHI, Ana Cristina VictorinoHepatoblastoma (HB) is a rare embryonal tumor, although it is the most common pediatric liver cancer. The aim of this study was to provide an accurate cytogenomic profile of this type of cancer, for which information in cancer databases is lacking. We performed an extensive literature review of cytogenetic studies on HBs disclosing that the most frequent copy number alterations (CNAs) are gains of 1q, 2/2q, 8/8q, and 20; and losses at 1p and 4q. Furthermore, the CNA profile of a Brazilian cohort of 26 HBs was obtained by array-CGH; the most recurrent CNAs were the same as shown in the literature review. Importantly, HBs from female patients, high-risk stratification tumors, tumors who developed in older patients (> 3 years at diagnosis) or from patients with metastasis and/or deceased carried a higher diversity of chromosomal alterations, specifically chromosomal losses at 1p, 4, 11q and 18q. In addition, we distinguished three major CNA profiles: no detectable CNA, few CNAs and tumors with complex genomes. Tumors with simpler genomes exhibited a significant association with the epithelial fetal subtype of HBs; in contrast, the complex genome group included three cases with epithelial embryonal histology, as well as the only HB with HCC features. A significant association of complex HB genomes was observed with older patients who developed high-risk tumors, metastasis, and deceased. Moreover, two patients with HBs exhibiting complex genomes were born with congenital anomalies. Together, these findings suggest that a high load of CNAs, mainly chromosomal losses, particularly losses at 1p and 18, increases the tendency to HB aggressiveness. Additionally, we identified six hot-spot chromosome regions most frequently affected in the entire group: 1q31.3q42.3, 2q23.3q37.3, and 20p13p11.1 gains, besides a 5,3 Mb amplification at 2q24.2q24.3, and losses at 1p36.33p35.1, 4p14 and 4q21.22q25. An in-silico analysis using the genes mapped to these six regions revealed several enriched biological pathways such as ERK Signaling, MicroRNAs in Cancer, and the PI3K-Akt Signaling, in addition to the WNT Signaling pathway; further investigation is required to evaluate if disturbances of these pathways can contribute to HB tumorigenesis. The analyzed gene set was found to be associated with neoplasms, abnormalities of metabolism/homeostasis and liver morphology, as well as abnormal embryonic development and cytokine secretion. In conclusion, we have provided a comprehensive characterization of the spectrum of chromosomal alterations reported in HBs and identified specific genomic regions recurrently altered in a Brazilian HB group, pointing to new biological pathways, and relevant clinical associations.
- Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation(2020) RIVAS, M.P.; AGUIAR, T.F.M.; MASCHIETTO, M.; LEMES, R.B.; CAIRES-JúNIOR, L.C.; GOULART, E.; TELLES-SILVA, K.A.; NOVAK, E.; CRISTOFANI, L.M.; ODONE, V.; CYPRIANO, M.; TOLEDO, S.R.C. de; CARRARO, D.M.; ESCOBAR, M.Q.; LEE, H.; JOHNSTON, M.; COSTA, C.M.L. da; CUNHA, I.W. da; TASIC, L.; PEARSON, P.L.; ROSENBERG, C.; TIMCHENKO, N.; KREPISCHI, A.C.V.Hepatoblastomas exhibit the lowest mutational burden among pediatric tumors. We previously showed that epigenetic disruption is crucial for hepatoblastoma carcinogenesis. Our data revealed hypermethylation of nicotinamide N-methyltransferase, a highly expressed gene in adipocytes and hepatocytes. The expression pattern and the role of nicotinamide N-methyltransferase in pediatric liver tumors have not yet been explored, and this study aimed to evaluate the effect of nicotinamide N-methyltransferase hypermethylation in hepatoblastomas. We evaluated 45 hepatoblastomas and 26 non-tumoral liver samples. We examined in hepatoblastomas if the observed nicotinamide N-methyltransferase promoter hypermethylation could lead to dysregulation of expression by measuring mRNA and protein levels by real-time quantitative polymerase chain reaction, immunohistochemistry, and Western blot assays. The potential impact of nicotinamide N-methyltransferase changes was evaluated on the metabolic profile by high-resolution magic angle spinning nuclear magnetic resonance spectroscopy. Significant nicotinamide N-methyltransferase downregulation was revealed in hepatoblastomas, with two orders of magnitude lower nicotinamide N-methyltransferase expression in tumor samples and hepatoblastoma cell lines than in hepatocellular carcinoma cell lines. A specific TSS1500 CpG site (cg02094283) of nicotinamide N-methyltransferase was hypermethylated in tumors, with an inverse correlation between its methylation level and nicotinamide N-methyltransferase expression. A marked global reduction of the nicotinamide N-methyltransferase protein was validated in tumors, with strong correlation between gene and protein expression. Of note, higher nicotinamide N-methyltransferase expression was statistically associated with late hepatoblastoma diagnosis, a known clinical variable of worse prognosis. In addition, untargeted metabolomics analysis detected aberrant lipid metabolism in hepatoblastomas. Data presented here showed the first evidence that nicotinamide N-methyltransferase reduction occurs in hepatoblastomas, providing further support that the nicotinamide N-methyltransferase downregulation is a wide phenomenon in liver cancer. Furthermore, this study unraveled the role of DNA methylation in the regulation of nicotinamide N-methyltransferase expression in hepatoblastomas, in addition to evaluate the potential effect of nicotinamide N-methyltransferase reduction in the metabolism of these tumors. These preliminary findings also suggested that nicotinamide N-methyltransferase level may be a potential prognostic biomarker for hepatoblastoma. © The Author(s) 2020.
- Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes(2022) AGUIAR, Talita; TEIXEIRA, Anne; SCLIAR, Marilia O.; BARROS, Juliana Sobral de; LEMES, Renan B.; SOUZA, Silvia; TOLEZANO, Giovanna; SANTOS, Fernanda; TOJAL, Israel; CYPRIANO, Monica; TOLEDO, Silvia Regina Caminada de; VALADARES, Eugenia; PINTO, Raquel Borges; ARTIGALAS, Osvaldo Afonso Pinto; AGUIRRE NETO, Joaquim Caetano de; NOVAK, Estela; CRISTOFANI, Lilian Maria; SUGAYAMA, Sofia M. Miura; ODONE, Vicente; CUNHA, Isabela Werneck; COSTA, Cecilia Maria Lima da; ROSENBERG, Carla; KREPISCHI, AnaThe ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We investigated the burden of rare damaging germline variants in 30 Brazilian patients with HB and the presence of additional clinical signs. A high frequency of prematurity (20%) and birth defects (37%), especially craniofacial (17%, including craniosynostosis) and kidney (7%) anomalies, was observed. Putative pathogenic or likely pathogenic monoallelic germline variants mapped to 10 cancer predisposition genes (CPGs: APC, CHEK2, DROSHA, ERCC5, FAH, MSH2, MUTYH, RPS19, TGFBR2 and VHL) were detected in 33% of the patients, only 40% of them with a family history of cancer. These findings showed a predominance of CPGs with a known link to gastrointestinal/colorectal and renal cancer risk. A remarkable feature was an enrichment of rare damaging variants affecting different classes of DNA repair genes, particularly those known as Fanconi anemia genes. Moreover, several potentially deleterious variants mapped to genes impacting liver functions were disclosed. To our knowledge, this is the largest assessment of rare germline variants in HB patients to date, contributing to elucidate the genetic architecture of HB risk.
conferenceObject Results from an Open-Label, Phase 1/2 Study of Frontline Brentuximab Vedotin Plus Adriamycin, Vinblastine, and Dacarbazine in Pediatric Patients with Advanced Stage Hodgkin Lymphoma(2021) FRANKLIN, A.; LUISI, F.; PIANOVSKI, M.; SALVINO, M.; FAGIOLI, F.; EPELMAN, S.; LIMA, L. B. De Abreu; NORRIS, R.; FILHO, V. O.; ZECCA, M.; FAVRE, C.; KOBAYASHI, R.; KOGA, Y.; SIDI, Y.; CAMPANA, F.; LEONARD, E. J.; LOCATELLI, F.conferenceObject Nutritional Status of Children with Cancer at Diagnosis in Brazil(2017) VIANI, K.; RAFAEL, M. Neto; BOUCHABKI, G.; OLIVEIRA, A. C.; MANZOLI, B.; OLIVEIRA, V.; LADAS, E.; BARR, R.; ODONE FILHO, V.