RESUMO
Las metástasis cutáneas se producen por la infiltración en piel de células originados en un tumor maligno situado a distancia generando implicancias pronósticas y terapéuticas. Se conoce que las metástasis cutáneas de paragangliomas son poco frecuentes, presentan manifestaciones clínicas variadas, pero son histopatológicamente reconocibles por un patrón anidado en Zellballen y una inmunohistoquímica específica del linaje celular. Presentamos el caso de una paciente con enfermedad de Von Hippel Lindau (VHL) con paraganglioma metastásico cutáneo, con respuesta clínica a distintos esquemas de quimioterapia. (AU)
Cutaneous metastases are produced by the proliferation of cells from a malignant tumor located at a distance, having prognostic and therapeutic implications. Cutaneous metastases of paragangliomas are a rare entity, which present varied clinical manifestations, histopathology with a Zellballen pattern and a specific immunohistochemistry that helps define the tumor lineage. We present the case of a patient with Von Hippel Lindau disease with cutaneous metastatic paraganglioma and good clinical response to chemotherapy. (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Paraganglioma/tratamento farmacológico , Pele , Doença de von Hippel-Lindau/complicações , Metástase Neoplásica/diagnóstico , Neoplasias , Infiltração-Percolação , Tratamento Farmacológico , Irinotecano/uso terapêuticoRESUMO
SUMMARY Metastatic pheochromocytomas (PHEOs) and paragangliomas (sPGLs) are rare neural crest-derived tumors with a poor prognosis. About 50% of them are due to germ-line mutations of the SDHB gene. At present, there is no cure for these tumors. Their therapy is palliative and represented by different options among which antiangiogenic drugs, like sunitinib, have been hypothesized to be effective especially in malignant SDHB mutated tumors. We report the effects of sunitinib therapy in a SDHB mutation carrier affected by a malignant sPGL. During 101 weeks of therapy at different doses, sunitinib was able to cause a partial response and then a stable disease for a total of 78 weeks. This favorable response is the longest, out of the 35 so far reported in the literature, registered in a patient treated exclusively with sunitinib but, similarly to the other responses, the effect was limited in time. From our analysis of the scanty data present in the literature, the effect of sunitinib does not seem to be different among wild-type patients and those carrying a cluster 1 germ-line mutation. Sunitinib seems able to slow the disease progression in some patients with malignant PHEO/PGL and therefore may represent a therapeutic option, although randomized controlled studies are needed to assess its efficacy definitively in the treatment of these aggressive tumors.
Assuntos
Humanos , Masculino , Adulto , Paraganglioma/tratamento farmacológico , Pirróis/uso terapêutico , Inibidores da Angiogênese/uso terapêutico , Indóis/uso terapêutico , Mutação/genética , Antineoplásicos/uso terapêutico , Paraganglioma/genética , Paraganglioma/irrigação sanguínea , Succinato Desidrogenase/genética , Resultado do Tratamento , Sunitinibe , Metástase NeoplásicaRESUMO
Metastatic pheochromocytomas (PHEOs) and paragangliomas (sPGLs) are rare neural crest-derived tumors with a poor prognosis. About 50% of them are due to germ-line mutations of the SDHB gene. At present, there is no cure for these tumors. Their therapy is palliative and represented by different options among which antiangiogenic drugs, like sunitinib, have been hypothesized to be effective especially in malignant SDHB mutated tumors. We report the effects of sunitinib therapy in a SDHB mutation carrier affected by a malignant sPGL. During 101 weeks of therapy at different doses, sunitinib was able to cause a partial response and then a stable disease for a total of 78 weeks. This favorable response is the longest, out of the 35 so far reported in the literature, registered in a patient treated exclusively with sunitinib but, similarly to the other responses, the effect was limited in time. From our analysis of the scanty data present in the literature, the effect of sunitinib does not seem to be different among wild-type patients and those carrying a cluster 1 germ-line mutation. Sunitinib seems able to slow the disease progression in some patients with malignant PHEO/PGL and therefore may represent a therapeutic option, although randomized controlled studies are needed to assess its efficacy definitively in the treatment of these aggressive tumors.