RESUMO
The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operations confirmed the diagnosis respectively. Both of the tumors were resected totally. Nevertheless, we had to confess the misdiagnosis as vascular tumor instead of ELST at the initial diagnosis because of the rarity of ELST associated with atypical histological characteristics. The purposes we reported this case were to describe the atypical pathological feature of ELST and the mutation of germline VHL not mentioned in previously literature, furthermore, to foster understanding of ELSTs with the avoidance of the similar misdiagnosis as far as possible in future.
Assuntos
Fossa Craniana Posterior/patologia , Neoplasias da Orelha/patologia , Saco Endolinfático/patologia , Hemangioblastoma/patologia , Neoplasias Primárias Múltiplas , Neoplasias da Base do Crânio/patologia , Osso Temporal/patologia , Doença de von Hippel-Lindau/complicações , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia , Fossa Craniana Posterior/química , Fossa Craniana Posterior/cirurgia , Craniotomia , Análise Mutacional de DNA , Erros de Diagnóstico , Neoplasias da Orelha/química , Neoplasias da Orelha/genética , Neoplasias da Orelha/cirurgia , Saco Endolinfático/química , Saco Endolinfático/cirurgia , Feminino , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Hemangioblastoma/química , Hemangioblastoma/genética , Hemangioblastoma/cirurgia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Invasividade Neoplásica , Valor Preditivo dos Testes , Neoplasias da Base do Crânio/química , Neoplasias da Base do Crânio/genética , Neoplasias da Base do Crânio/cirurgia , Osso Temporal/química , Osso Temporal/cirurgia , Tomografia Computadorizada por Raios X , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genéticaRESUMO
Epithelioid hemangioendothelioma (EHE) is a rare and low-grade vascular tumor, which usually occurs in the soft tissue, liver, breast, lung and skeleton. Here we submit a case with EHE of the clival region. A 58-year-old woman was admitted with a medical history of 3 months headache and 1 month visual deterioration. MRI revealed a well-circumscribed mass of 4.0 cm × 3.0 cm with bony invasion. The tumor was subtotally removed in a piecemeal fashion. Histologically, the tumor was composed of epithelioid cells with eosinophilic cytoplasm and intracytoplasmic vacuoles. Immunohistochemically, the tumor cells were positive for the markers CD31, CD34, factor VIII and vimentin. The pathological result was interpretated as EHE of the clival region. EHE is an uncommon vascular tumor, which is rarely seen in the clival region. Definitive diagnosis depends on histopathologic and immunohistochemical features.
