Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease—a case report and literature review

Bains, Simer Jit; Niehusmann, Pitt; Meling, Torstein R.; Saxhaug, Cathrine; Züchner, Mark; Brandal, Petter

doi:10.1007/s00701-019-03800-z

Cited by 7 publications

(19 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…After an extensive review of the literature in PubMed and Google Scholar using the terms “Hemangioblastoma,” “Hemangioblastomatosis,” “Leptomeningeal dissemination,” and “von Hippel–Lindau,” we found 30 similar cases reported in the past 46 years [ Table 1 ]. [ 1 - 4 , 6 , 8 , 10 , 13 , 15 , 17 , 19 , 20 , 22 - 27 , 30 , 32 , 33 ]…”

Section: Discussionmentioning

confidence: 99%

“…In many studies, patients died within 4 years of the diagnosis of CNS dissemination. [ 1 , 4 , 17 , 19 , 22 , 27 , 32 , 33 ] In one study, the patient survived for 10 years after the dissemination. [ 8 ] In some studies, the patients were still alive at the time of publication, but with short follow-up periods or ongoing cases.…”

Section: Discussionmentioning

confidence: 99%

“…[ 9 ] Some authors suggest that sporadic HB with leptomeningeal dissemination is a radioresistant neoplasm since most of the patients recur despite adjuvant irradiation. [ 4 ]…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel–Lindau disease: A case report and literature review

Dantas¹,

Raso²,

Braga

et al. 2022

Surgical Neurology International

View full text Add to dashboard Cite

Background: Hemangioblastomas (HBs) typically present with benign behavior and are most commonly found in the posterior fossa. Multiple central nervous system (CNS) HBs are usually associated with von Hippel–Lindau disease, and leptomeningeal dissemination of sporadic HBs is extremely rare. A review of the literature identified 30 cases of leptomeningeal dissemination of sporadic HBs previously published in the literature. Case Description: We report the case of a patient who was diagnosed with multiple CNS HBs with aggressive progression 6 years after resection of a posterior fossa HB. He underwent multiple surgeries and died 4 years after the diagnosis of the first spinal dissemination. Conclusion: Dissemination of sporadic HBs is rare and aggressive disease evolution is usually observed. Further studies are necessary to determine the optimal therapeutic options.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel–Lindau disease: A case report and literature review

Dantas¹,

Raso²,

Braga

et al. 2022

Surgical Neurology International

View full text Add to dashboard Cite

show abstract

“…These tumours account for 1%–2% of all primary central nervous system tumours 1 2. Sporadic HB is usually solitary and accounts for 70%–75% of cases, whereas in 25%–30% of patients, it is a manifestation of von Hippel-Lindau (VHL) disease with multifocal HBs 3 4. The mutated gene in VHL disease is a tumour suppressor gene located on the short arm of chromosome 3 3 5 6.…”

Section: Introductionmentioning

confidence: 99%

“…Sporadic HB is usually solitary and accounts for 70%–75% of cases, whereas in 25%–30% of patients, it is a manifestation of von Hippel-Lindau (VHL) disease with multifocal HBs 3 4. The mutated gene in VHL disease is a tumour suppressor gene located on the short arm of chromosome 3 3 5 6. In addition to HBs, multiple visceral neoplasms are characteristic of VHL disease, including renal clear cell carcinoma, pheochromocytoma and pancreatic neuroendocrine tumour 1 7–11.…”

Section: Introductionmentioning

confidence: 99%

Spinal leptomeningeal hemangioblastomatosis occurring without craniospinal surgery in von Hippel-Lindau disease

Jesús

Rosado-Philippi

2022

BMJ Case Rep

View full text Add to dashboard Cite

Hemangioblastomatosis represents an unusual and malignant leptomeningeal dissemination of hemangioblastoma (HB). It has been reported in patients with sporadic HB or von Hippel-Lindau (VHL) disease. Hemangioblastomatosis had been reported following resection of a primary HB lesion in all cases except one patient with a sporadic HB. We present a patient with VHL with several HBs at the brainstem, cerebellum, pituitary stalk and retina who developed spinal hemangioblastomatosis without previous craniospinal surgery. A whole spine MRI showed the spinal dissemination from the primary lesions. The patient received craniospinal radiotherapy due to the extensive spinal leptomeningeal dissemination and multiple HBs. MRI performed 12 months after the radiotherapy showed stability of the lesions.

show abstract

Masked malignant phenotype with a benign appearance: beat-up copy number profile may be the key for hemangioblastoma dissemination

et al. 2020

View full text Add to dashboard Cite

Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease—a case report and literature review

Cited by 7 publications

References 22 publications

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel–Lindau disease: A case report and literature review

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel–Lindau disease: A case report and literature review

Spinal leptomeningeal hemangioblastomatosis occurring without craniospinal surgery in von Hippel-Lindau disease

Masked malignant phenotype with a benign appearance: beat-up copy number profile may be the key for hemangioblastoma dissemination

Contact Info

Product

Resources

About