Pituitary Stalk Hemangioblastoma in a von Hippel-Lindau Patient : Clinical Course Follow-Up Over a 20-Year Period

Supratentorial hemangioblastomas (HBs) are rare, and pituitary stalk HBs are extremely uncommon; therefore, pituitary stalk evaluation is often overlooked. Herein, we report the development of pituitary stalk HB over a 20-year period and the importance of regular long-term follow up for patients with HBs.

Clinical and imaging features of von Hippel-Lindau disease: A case report of VHL disease and literature review / 中华泌尿外科杂志

Objective To investigate the clinical and imaging features of von Hippel-Lindau disease to raise awareness of the disease. Methods The clinical and imaging data of a case of VHL patient were analyzed retrospectively and discussed with relative literature review. The patient was a 50-year-old man, who was admitted with the chief complaints of painless gross hematuria and blurred vision for 5 months. Imaging data and ophthalmoscopy examination showed bilateral multiple renal tumors, renal cysts, pancreatic cysts, hepatic cysts and retinal angioma in his right eye. He suffered a surgical operation for his cerebellar hemangioblastoma 12 years ago without family history. Results The patient underwent nephron- sparing surgery (NSS) in the left kidney. Five renal tumors were removed, and the largest tumor was 3.5 cm× 3.5 cm. Postoperative oral administration of Sorafenib agents was applied. Followed up for 4 months, the renal function was normal and the right kidney tumor reduced. Pathology confirmed the diagnosis of multiple renal clear cell carcinoma. Conclusions VHL disease is a familial autosomal dominant hereditary syndrome, with the performance of hemangioblastorna in central nervous system, visceral tumors and multiple visceral cysts. Comprehensive imaging examination plays a major role in both the diagnosis and the follow-up of VHL disease.

Long-Term Follow-Up Clinical Courses of Cerebellar Hemangioblastoma in von Hippel-Lindau Disease : Two Case Reports and a Literature Review

Although cerebellar hemangioblastomas are histopathologically benign, they yield a degree of malignant clinical behavior in long-term follow-up. We present two cases of long-term progression of renal cell carcinoma, which had been diagnosed as renal cysts during treatment for cerebellar hemangioblastoma. A 14-year-old male with von Hippel-Lindau disease was admitted for a cerebellar hemangioblastoma with multiple spinal hemangioblastomas and a renal cyst. After primary total resection of the cerebellar hemangioblastoma, the patient required two further surgeries after 111 and 209 months for a recurrent cerebellar hemangioblastoma. Furthermore, he underwent radical nephrectomy as his renal cyst had progressed to renal cell carcinoma 209 months after initial diagnosis. A 26-year-old male presented with multiple cerebellar hemangioblastomas associated with von Hippel-Lindau disease and accompanied by multiple spinal hemangioblastomas and multiple cystic lesions in the liver, kidney, and pancreas. He underwent primary resection of the cerebellar hemangioblastoma in association with craniospinal radiation for multiple intracranial/spinal masses. Unexpectedly, a malignant glioma developed 83 months after discovery of the cerebellar hemangioblastoma. At the same time, renal cell carcinoma, which had developed from an initial renal cyst, was diagnosed, and a radical nephrectomy was performed. In the view of long term clinical course, cerebellar hemangioblastoma associated with von Hipple-Lindau disease may redevelop even after primary total resection. In addition, associated lesions such as renal cysts may also progress to malignancy after the passing of a sufficient length of time.

The Cytology of a Cellular Variant of Cerebellar Hemangioblastoma in Squash Preparation : Pitfalls in Diagnosis / 대한세포병리학회지

Due to its nuclear pleomorphism, knowledge regarding the cytological findings of cerebellar hemangioblastoma can lead to misdiagnosis when using squash specimens, which in other circumstances serves as a useful adjunct in the diagnosis of brain tumors on frozen section. We recently experienced the cytological findings of a cellular variant of cerebellar hemangioblastoma in a 51-year-old man. Squash specimens revealed scattered single tumor cells, with pleomorphic nuclei and cytoplasmic vacuoles, on a hemorrhagic background. The cellular clusters were composed of spindle-shaped endothelial cellsin addition to densely clustered stromal cells. Intranuclear inclusions were frequently seen. The nuclear pleomorphism, bubbly cytoplasmic vacuoles and presence of intranuclear inclusions, seen in the squash specimen, may increase the difficulty of frozen section diagnosis of cerebellar hemangioblastoma. Awareness of the cytologicalfindings of hemangioblastoma is needed to avoid the pitfalls in the intraoperative diagnosis of cerebellar hemangioblastomas.

A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin / 대한내분비학회지

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not.

Cerebellar Hemangioblastoma:Hemorrhage as an Initial Presentation: Case Report

A rare case of a spontaneous intracerebellar hemorrhage from a solid cerebellar hemangioblastoma is reported with review of articles. The cerebellar hemangioblastoma was strongly suspected in the postoperative brain computerized tomography and vertebral angiography. It was successfully removed by second operation and confirmed histologically.