Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predomi... more Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3...
This article was submitted to Cancer Endocrinology, a section of the journal Frontiers in Endocri... more This article was submitted to Cancer Endocrinology, a section of the journal Frontiers in Endocrinology
Arquivos Brasileiros de Endocrinologia & Metabologia, 2004
Em pacientes com síndrome de Cushing, observa-se freqüência aumentada de infecções oportunistas q... more Em pacientes com síndrome de Cushing, observa-se freqüência aumentada de infecções oportunistas que possuem uma elevada mortalidade e estão associadas à gravidade do hipercortisolismo. Criptococose pulmonar é uma destas infecções oportunistas e pode mimetizar uma neoplasia pulmonar, tornando o seu diagnóstico difícil. Apresentamos um caso de um paciente do sexo masculino, jovem, com síndrome de Cushing ACTH-dependente e grave hipercortisolismo. O paciente obteve a cura após cirurgia transfenoidal, mas desenvolveu quadro febril. Tomografia computadorizada de tórax mostrou um nódulo pulmonar que não se alterava em radiografias seriadas. A investigação para tuberculose, infecção fúngica e bacteriana foi inconclusiva, tornando a hipótese de neoplasia pulmonar mais provável. O paciente faleceu por sepse urinária. A necropsia, no entanto, demonstrou tratar-se de criptococose pseudotumoral. Pacientes com síndrome de Cushing e infiltrado pulmonar devem ser avaliados quanto à infecção fúngic...
Background: Adrenalectomy is standard of care for phaeochromocytomas, but for bilateral phaeochro... more Background: Adrenalectomy is standard of care for phaeochromocytomas, but for bilateral phaeochromocytoma, the recommendations are inconsistent. However, large studies systematically investigating long-term outcomes for total adrenalectomies compared to those for patients with adrenal-sparing operations are lacking. Methods: A multi-center consortium-based registry was established to study clinical, genetic and surgical data in 623 patients with bilateral phaeochromocytomas. Findings: Of 623 patients, median age at diagnosis was 30 (range 3-79) years and 48% were female. Synchronous bilateral phaeochromocytomas were diagnosed in 396 patients and metachronousphaeochromocytomas in 227 (36%); interval to second operations were up to 40 (median 6) years. In 96% of tested patients germline mutations were detected in the genes RET (56%), VHL (34%), and others (10%). Of 849 operations, 385 (45%) surgeries in 326 patients were planned as adrenal-sparing which was successful in 251. 372 pa...
Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause ... more Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2,330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75). Fifty-five (20%) patients had metastatic PanNETs. Metastatic PanNETs were significantly larger (median size 5 vs 2 cm; P<0.001) and tumor volume doubling time (TVDT) was faster (22 vs 126 months; P=0.001). All metastatic tumors were ≥2.8 cm. Codons 161 and 167 were hotspots for VHL germline mutations with enhanced risk for metastatic PanNETs. Multivariate prediction modeling disclosed maximum tumor diameter and TVDT as sign...
Base de dados : LILACS. Pesquisa : 209601 [Identificador único]. Referências encontradas : 1 [ref... more Base de dados : LILACS. Pesquisa : 209601 [Identificador único]. Referências encontradas : 1 [refinar]. Mostrando: 1 .. 1 no formato [Detalhado]. página 1 de 1, 1 / 1, LILACS, seleciona. para imprimir. Fotocópia. Vaisman, Mario. Violante, Alice Helena Dutra. Zajdenverg, Lenita. ...
Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predomi... more Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3...
This article was submitted to Cancer Endocrinology, a section of the journal Frontiers in Endocri... more This article was submitted to Cancer Endocrinology, a section of the journal Frontiers in Endocrinology
Arquivos Brasileiros de Endocrinologia & Metabologia, 2004
Em pacientes com síndrome de Cushing, observa-se freqüência aumentada de infecções oportunistas q... more Em pacientes com síndrome de Cushing, observa-se freqüência aumentada de infecções oportunistas que possuem uma elevada mortalidade e estão associadas à gravidade do hipercortisolismo. Criptococose pulmonar é uma destas infecções oportunistas e pode mimetizar uma neoplasia pulmonar, tornando o seu diagnóstico difícil. Apresentamos um caso de um paciente do sexo masculino, jovem, com síndrome de Cushing ACTH-dependente e grave hipercortisolismo. O paciente obteve a cura após cirurgia transfenoidal, mas desenvolveu quadro febril. Tomografia computadorizada de tórax mostrou um nódulo pulmonar que não se alterava em radiografias seriadas. A investigação para tuberculose, infecção fúngica e bacteriana foi inconclusiva, tornando a hipótese de neoplasia pulmonar mais provável. O paciente faleceu por sepse urinária. A necropsia, no entanto, demonstrou tratar-se de criptococose pseudotumoral. Pacientes com síndrome de Cushing e infiltrado pulmonar devem ser avaliados quanto à infecção fúngic...
Background: Adrenalectomy is standard of care for phaeochromocytomas, but for bilateral phaeochro... more Background: Adrenalectomy is standard of care for phaeochromocytomas, but for bilateral phaeochromocytoma, the recommendations are inconsistent. However, large studies systematically investigating long-term outcomes for total adrenalectomies compared to those for patients with adrenal-sparing operations are lacking. Methods: A multi-center consortium-based registry was established to study clinical, genetic and surgical data in 623 patients with bilateral phaeochromocytomas. Findings: Of 623 patients, median age at diagnosis was 30 (range 3-79) years and 48% were female. Synchronous bilateral phaeochromocytomas were diagnosed in 396 patients and metachronousphaeochromocytomas in 227 (36%); interval to second operations were up to 40 (median 6) years. In 96% of tested patients germline mutations were detected in the genes RET (56%), VHL (34%), and others (10%). Of 849 operations, 385 (45%) surgeries in 326 patients were planned as adrenal-sparing which was successful in 251. 372 pa...
Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause ... more Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2,330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75). Fifty-five (20%) patients had metastatic PanNETs. Metastatic PanNETs were significantly larger (median size 5 vs 2 cm; P<0.001) and tumor volume doubling time (TVDT) was faster (22 vs 126 months; P=0.001). All metastatic tumors were ≥2.8 cm. Codons 161 and 167 were hotspots for VHL germline mutations with enhanced risk for metastatic PanNETs. Multivariate prediction modeling disclosed maximum tumor diameter and TVDT as sign...
Base de dados : LILACS. Pesquisa : 209601 [Identificador único]. Referências encontradas : 1 [ref... more Base de dados : LILACS. Pesquisa : 209601 [Identificador único]. Referências encontradas : 1 [refinar]. Mostrando: 1 .. 1 no formato [Detalhado]. página 1 de 1, 1 / 1, LILACS, seleciona. para imprimir. Fotocópia. Vaisman, Mario. Violante, Alice Helena Dutra. Zajdenverg, Lenita. ...
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