• 대한영상의학회지
• /
• 제82권3호
• /
• pp.700-707
• /
• 2021

혈관모세포종은 저등급, 고혈관성 종양으로 주로 소뇌에 발생한다. 드물게 척추에 발생하는 경우 대부분 수내에 발생하며 본히펠린다우 증후군(von Hippel-Lindau syndrome)과 연관이 있는 경우가 많다. 하지만 경막 내 수외 종양으로 척수 말총에 본히펠린다우 증후군이 없이 발생하는 혈관모세포종은 극히 드물어 현재까지 24예만이 보고되어 있다. 우리는 본히펠린다우 증후군이 아닌 환자에서 척수 말총에 생긴 경막 내 수외 혈관모세포종의 특징적인 영상 소견과 그 감별진단에 초점을 맞춰 보고하고자 한다. 또한 문헌 고찰을 통해 이전에 보고되었던 증례들과 임상 양상 및 영상 소견을 비교하여 분석하였다.

• 대한두경부종양학회지
• /
• 제39권2호
• /
• pp.65-69
• /
• 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
• /
• 제54권5호
• /
• pp.415-419
• /
• 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
• /
• 제39권3호
• /
• pp.234-237
• /
• 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
• /
• 제16권5호
• /
• pp.1977-1980
• /
• 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.