ROBERTO IGLESIAS LOPES
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
6 resultados
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- Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas(2021) PETENUCI, Janaina; GUIMARAES, Augusto G.; FAGUNDES, Gustavo F. C.; BENEDETTI, Anna Flavia F.; AFONSO, Ana Caroline F.; PEREIRA, Maria Adelaide A.; ZERBINI, Maria Claudia N.; SIQUEIRA, Sheila; YAMAUCHI, Fernando; SOARES, Silvia C.; SROUGI, Victor; TANNO, Fabio Y.; CHAMBO, Jose L.; I, Roberto Lopes; DENES, Francisco T.; HOFF, Ana O.; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; V, Maria Candida B. Fragoso; ALMEIDA, Madson Q.Objective Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL. Patients and Methods This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4-19). The median time of follow-up was 145 months. The genetic investigation was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification and/or target next-generation sequencing panel. Results Of the 25 children with PPGL, 11 (44%), 4 (16%), 2 (8%), 1 (4%) and 7 (28%) had germline VHL pathogenic variants, SDHB, SDHD, RET and negative genetic investigation, respectively. Children with germline VHL missense pathogenic variants were younger than those with SDHB or SDHD genetic defects [median (range), 12 (4-16) vs. 15.5 (14-19) years; P = .027]. Moreover, 10 of 11 cases with VHL pathogenic variants had bilateral pheochromocytoma (six asynchronous and four synchronous). All children with germline SDHB pathogenic variants presented with abdominal paraganglioma (one of them malignant). The two cases with SDHD pathogenic variants presented with head and neck paraganglioma. Among the cases without a genetic diagnosis, 6 and 2 had pheochromocytoma and paraganglioma, respectively. Furthermore, metastatic PPGL was diagnosed in four (16%) of 25 PPGL. Conclusions Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.
- Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up(2022) BACHEGA, Fernanda S.; V, Caio Suartz; ALMEIDA, Madson Q.; BRONDANI, Vania B.; CHARCHAR, Helaine L. S.; LACOMBE, Amanda M. F.; MARTINS-FILHO, Sebastiao N.; SOARES, Ibere C.; ZERBINI, Maria Claudia N.; DENES, Francisco T.; MENDONCA, Berenice; I, Roberto Lopes; LATRONICO, Ana Claudia; V, Maria Candida B. FragosoPediatric adrenocortical tumors (PACTs) represent rare causes of malignancies. However, the south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene TP53. We aimed to retrospectively analyze the types of variables among hormone production, radiological imaging, tumor staging, histological and genetic features that were associated with the occurrence of malignancy in 95 patients (71% females) with PACTs from a unique center. The worst prognosis was associated with those aged > 3 years (p < 0.05), high serum levels of 11-desoxicortisol (p < 0.001), tumor weight >= 200 g (p < 0.001), tumor size >= 5 cm (p < 0.05), Weiss score >= 5 (p < 0.05), Wieneke index >= 3 (p < 0.001) and Ki67 >= 15% (p < 0.05). Furthermore, patients with MacFarlane stage IV had an overall survival rate almost two times shorter than patients with other stages (p < 0.001). Additionally, the subtractions of BUB1B-PINK1 (<6.95) expression (p < 0.05) and IGF-IR overexpression (p = 0.0001) were associated with malignant behavior. These results helped identify patients who are likely to have an aggressive course; further multicenter prospective studies are required to confirm our results. In conclusion, PACTs with these patterns of prognostic factors could be treated using an adjuvant approach that may improve the overall survival in such patients.
- Management of functioning pediatric adrenal tumors(2021) LOPES, Roberto Iglesias; SUARTZ, Caio Vinicius; PEDRENHO NETO, Rubens; BERJEAUT, Ricardo Haidar; MENDONCA, Berenice; ALMEIDA, Madson Q.; FRAGOSO, Maria Candida Villares; DENES, Francisco TiborAim: The aim of this study is to present our experience in the management of hormonally active adrenal tumors in children.& nbsp; Material and methods: We did a retrospective chart review of all children with hormonally active adrenal tumors evaluated at the endocrinology clinic and operated at our institution between 1983 and 2019.& nbsp; Results: There were 75 patients included in the study, 58 with adrenocortical tumors (ACTs) and 17 with pheochromocytomas (PCCs). Within the group of patients with ACTs, there were 41 females and 17 males. The mean age was 58.3 (SD: 87.9; range: 9 & ndash;211) months. The clinical manifestation of the tumor's hormonal activity was virilization in 37 cases, Cushing syndrome in 5, and mixed in 16. A positive family history was present in 11 patients (18.9%). The mean tumor size was 48.2 (SD: 22.4; range: 7 & ndash;120) mm. The pathological diagnosis was adenoma in 42 cases, carcinoma in 15 cases, and macronodular hyperplasia in 1. Median follow-up was 192 (range: 50 & ndash;290) months. Tumor recurrence occurred in 6 patients (10.3%), and there were three disease-related deaths (5%). Within the group of patients with PCCs, there were 11 males and 6 females. The mean age was 146.7 (SD: 71.2; range: 60 & ndash;216) months. A positive family history was present in 7 patients (41.2%). The mean tumor size was 36.6 (SD: 16.7; range: 7 & ndash;120) mm. The pheochromocytoma was classified as benign in 15 cases and as malignant in 2. During a median follow-up of 180 (range: 127 & ndash;300) months, recurrence was observed in 6 cases (35.3%) and disease-related death in 1 case (5.9%).& nbsp; Conclusions: Proper diagnosis and management at our referral center were associated with a high cure rate, even in cases of malignant tumors. Familial surveillance is highly recommended.& nbsp; Level of evidence: Level IV.& nbsp; (c) 2020 Elsevier Inc. All rights reserved.
- Malignant paraganglioma in children treated with embolization prior to surgical excision(2016) MIRANDA, Eduardo de Paula; LOPES, Roberto Iglesias; PADOVANI, Guilherme Philomeno; MOSCARDI, Paulo Renato Marcelo; NISHIMURA, Fernanda Gardini Maciel; MENDONCA, Berenice Bilharinho de; CARNEVALE, Francisco Cesar; CRISTOFANI, Lilian Maria; DUARTE, Ricardo Jordao; SROUGI, Miguel; DENES, Francisco TiborBackground: Paragangliomas (PGL) are rare tumors derived from neural crest cells, whose origins may vary along the chain of the sympathetic nervous system. Such tumors are often characterized by secretion of catecholamines, but sometimes they are biochemically inactive, which makes diagnosis often challenging. Malignant paraganglioma is defined by the presence of this tumor at sites where chromaffin cells are usually not found or by local invasion of the primary tumor. Recurrence, either regional or metastatic, usually occurs within 5 years of the initial complete resection but long-term recurrence is also described. Malignancy is often linked to a SDHB mutation. Preoperative embolization has been applied in the surgical management of PGLs with the objective to decrease intra-operative blood loss and surgery length without complications. Case Presentation: We report two cases of patients with abdominal or pelvic malignant PGLs who have been treated surgically at our center after preoperative embolization. Surgery was a very challenging procedure with multiple surgical teams involved and embolization did not prevent major blood loss and intraoperative complications. Patients required adjuvant treatment with either chemotherapy or radiotherapy. Conclusions: Many studies in the adult population have established recommendations for the diagnosis and therapeutic management of PGL, but few studies concern the pediatric population. Because malignant PGL is more important in the pediatric population, screening and early diagnosis of PGL is advisable in children with genetic predisposing. Surgical resection is the mainstay of treatment, but a multimodal approach is often required due to the complexity of cases. The role of preoperative embolization is not established and in our experience it has provided little benefit and major complications.
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- Laparoscopic adrenalectomy in children(2012) LOPES, Roberto Iglesias; DENES, Francisco Tibor; BISSOLI, Julio; MENDONCA, Berenice Bilharino; SROUGI, MiguelPurpose: Reporting on the laparoscopic technique for adrenal disease in children and adolescents has been limited. We review here our experience with laparoscopic adrenal surgery in children. Patients and methods: 19 laparoscopic unilateral adrenalectomies were performed in 10 girls and 7 boys (mean age 3.9 years) during 1998-2011. The clinical diagnosis before surgery was virilizing tumor (n = 8), pheochromocytoma (n = 3), nonfunctioning solid adrenal tumor (n = 3), mixed adrenocortical tumor (n = 2), cystic adrenal mass (n = 1). Unilateral adrenal lesions were 20-65 mm at the longest axis on computerized tomography (12 right side, 7 left side). Results: The final clinicopathological diagnosis was cortical adenoma (n = 9), pheochromocytoma (n = 3, bilateral in two), neuroblastoma (n = 1), ganglioneuroblastoma (n = 1), ganglioneuroma (n = 1), adrenocortical carcinoma (n = 1), benign adrenal tissue (n = 1). Average operative time was 138.5 min (range 95-270). Blood transfusion was required in one case (5%). No conversion to open surgery was required and no deaths or postoperative complications occurred. Average hospital stay was 3.5 days (range 2-15). Average postoperative follow-up was 81 months (range 2-144). Two contralateral metachronic pheochromocytomas associated with von Hippel-Lindau syndrome occurred, treated with partial laparoscopic adrenalectomy (one without postoperative need of cortisone replacement therapy). Conclusions: Laparoscopic adrenalectomy is a feasible procedure that produces good results. It can be used safely to treat suspected benign and malignant adrenal masses in children with minimal morbidity and short hospital stay.