• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.700-707
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• 2021

Hemangioblastomas are low-grade, highly vascular tumors that are usually associated with von Hippel-Lindau syndrome. Hemangioblastomas most commonly occur in the cerebellum, and intradural extramedullary hemangioblastoma of the cauda equina is very rare, especially in patients without von Hippel-Lindau syndrome. Herein, we report a case of intradural extramedullary hemangioblastoma of the cauda equina that was not associated with von Hippel-Lindau syndrome, with a focus on its imaging characteristics and differential diagnoses. We compared the clinical presentation and imaging features of our case with those of previously reported cases in the review of the literature.

• Korean Journal of Head & Neck Oncology
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• v.39 no.2
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• pp.65-69
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• 2023

We report a unique case of hemangioma of the nasal cavity in von Hippel-Lindau (VHL) syndrome. A 26-year-old female with VHL syndrome who had previously undergone surgery for pancreatic and adrenal mass presented with a 4-month history of left-sided nasal obstruction. The patient had an expansile mass lesion in the left nasal cavity and an imaging test demonstrated the mass in the left maxillary sinus extending to the nasal cavity. The tumor was removed with an endoscopic prelacrimal recess approach considering the possibility of not only a benign tumor such as hemangioma but also a malignant tumor of the maxillary sinus and histopathologic examination confirmed cavernous hemangioma. This case is the rarely reported manifestation of the paranasal sinus in VHL disease.

• Journal of Korean Neurosurgical Society
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• v.54 no.5
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• pp.415-419
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• 2013

Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratentorial hemangioblastoma associated with von Hippel-Lindau disease. Patients with von Hippel-Lindau syndrome are at risk for developing multiple hemangioblastomas, with new tumor formation and growth and possible meningeal infiltration. Regular lifelong follow-up in at-risk patients is recommended and should include the differential diagnosis of dural-based tumors such as angioblastic meningioma and metastatic renal cell carcinoma.

• Journal of Korean Neurosurgical Society
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• v.39 no.3
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• pp.234-237
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• 2006

The filum terminale is an exceptional location for isolated hemangioblastoma, and most commonly hemangioblastomas are present In patients with von Hippel-Lindau[VHL] syndrome. We describe here a case of hemangioblastoma of filum terminale not associated with VHL, presenting with the history of progressive back pain, particularly severe in recumbent posture, and recurrent bilateral sciatica. MRI and spinal angiography revealed a well-vasculized mass lesion in filum terminale. The tumor was resected surgically. Histological examination confirmed the hemangioblastoma diagnosis. We recommended that, although rare, hemangiblastoma of the filum terminale be included in the differential diagnosis of a patient with low back pain.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1977-1980
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• 2015

Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(^TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding ${\beta}$-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(^TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(^TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research intoVHLD pathogenesis.