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Journal of Pathology and Translational... May 2022Hemangioblastoma (HB) is a rare benign tumor that most commonly occurs in the cerebellum. HB is composed of neoplastic stromal cells and abundant small vessels. However,...
Hemangioblastoma (HB) is a rare benign tumor that most commonly occurs in the cerebellum. HB is composed of neoplastic stromal cells and abundant small vessels. However, the exact origin of stromal cells is controversial. Extraneural HBs have been reported in a small series, and peripheral HBs arising in the adrenal gland are extremely rare. Herein, we report a case of sporadic adrenal HB in a 54-year-old woman. The tumor was a well-circumscribed, yellow mass measuring 4.2 cm in diameter. Histologically, the tumor was composed of small blood vessels and vacuolated stromal cells with clear cytoplasm. On immunohistochemical stain, the stromal cells were positive for S-100 protein, neuron-specific enolase, and synaptophysin. The tumor did not reveal mutation of VHL alleles. We herein present a case of HB of the adrenal gland and review of the literature.
PubMed: 35209700
DOI: 10.4132/jptm.2021.12.28 -
Journal of Pediatric Genetics Jun 2016Von Hippel-Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3.... (Review)
Review
Von Hippel-Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel-Lindau disease is characterized by an increased risk of developing simple visceral cysts, most commonly in the pancreas and kidneys, in addition to an increased risk of developing neoplasms, often with clear cell features, in a multitude of organ systems. The most common neoplasms are cerebellar and retinal hemangioblastomas, adrenal pheochromocytomas, clear cell renal cell carcinomas, pancreatic neuroendocrine tumors, pancreatic serous cystadenomas, and endolymphatic sac tumors. These lesions most commonly present during adulthood; however, screening and surveillance for the development of these lesions should begin in the pediatric years for patients with von Hippel-Lindau disease. In this review article, the genetics and most common neoplasms of von Hippel-Lindau disease are reviewed, with an eye towards implications for the pediatric patient.
PubMed: 27617152
DOI: 10.1055/s-0036-1579757 -
Journal of Vascular and Interventional... Jan 2016
PubMed: 26958149
DOI: No ID Found -
Journal of Pathology and Translational... May 2022Hemangioblastoma is a benign, highly vascularized neoplasm of the central nervous system (CNS). This tumor is associated with loss of function of the VHL gene and... (Review)
Review
Hemangioblastoma is a benign, highly vascularized neoplasm of the central nervous system (CNS). This tumor is associated with loss of function of the VHL gene and demonstrates frequent occurrence in von Hippel-Lindau (VHL) disease. While this entity is designated CNS World Health Organization grade 1, due to its predilection for the cerebellum, brainstem, and spinal cord, it is still an important cause of morbidity and mortality in affected patients. Recognition and accurate diagnosis of hemangioblastoma is essential for the practice of surgical neuropathology. Other CNS neoplasms, including several tumors associated with VHL disease, may present as histologic mimics, making diagnosis challenging. We outline key clinical and radiologic features, pathophysiology, treatment modalities, and prognostic information for hemangioblastoma, and provide a thorough review of the gross, microscopic, immunophenotypic, and molecular features used to guide diagnosis.
PubMed: 35501672
DOI: 10.4132/jptm.2022.04.13 -
Surgical Neurology International 2020Symptomatic cerebellar hemangioblastomas are extremely rare in pregnant women and the ideal management is not well established. In the present article, we aimed to...
BACKGROUND
Symptomatic cerebellar hemangioblastomas are extremely rare in pregnant women and the ideal management is not well established. In the present article, we aimed to report a case of large cerebellar hemangioblastoma complicated by pregnancy and managed successfully by surgical resection. In addition, we also discuss management options and review of the current literature pertaining to this pathology.
CASE DESCRIPTION
A 22-year-old female presented with a history of headache and vomiting for 4 weeks. She was carrying 28 weeks of pregnancy. She had left cerebellar signs, gait ataxia, and bilateral six nerve paresis. Fundus examination revealed bilateral papilledema. She was diagnosed to have large cerebellar hemangioblastoma with mass effect and obstructive hydrocephalus. She underwent suboccipital craniotomy and excision of lesion in lateral position. She recovered well postoperatively and delivered a healthy baby in the full term. Imaging at10- month follow-up demonstrates no residual lesion or another hemangioblastoma.
CONCLUSION
Early diagnosis and direct surgery for excision of hemangioblastoma is a good option during pregnancy while avoiding CSF diversion procedures. The symptomatic hemangioblastoma during pregnancy can be safely operated during early pregnancy.
PubMed: 32494398
DOI: 10.25259/SNI_203_2020 -
Journal of Cancer Research and... 2021Retinal hemangioblastomas are one of the most common and early manifestations of Von Hippel-Lindau disease. Early detection is the key in their management. When left...
Retinal hemangioblastomas are one of the most common and early manifestations of Von Hippel-Lindau disease. Early detection is the key in their management. When left untreated, these benign neoplasms may continue to grow and result in scleral infiltration and extraocular extension warranting enucleation of the globe.
Topics: Adult; Cerebellar Neoplasms; Combined Modality Therapy; Female; Fungi; Hemangioblastoma; Humans; Prognosis; Retinal Neoplasms; Scleral Diseases
PubMed: 33723171
DOI: 10.4103/jcrt.JCRT_718_18 -
Cureus Jan 2022Hemangioblastomas are benign neoplasms, which are highly vascularized and have a slow-growing rate that typically affect the central nervous system; they account for...
Hemangioblastomas are benign neoplasms, which are highly vascularized and have a slow-growing rate that typically affect the central nervous system; they account for about 1-2.5% of all intracranial tumors and for approximately 2-3% of all intramedullary neoplasms. We present a clinical case of cerebellar hemangioblastoma with six years of evolution, which illustrates the diagnostic difficulties that often arise, especially when the clinical and imaging characteristics escape those usually described and when other clinical findings appear as confounding factors. A 17-year-old female was initially admitted to the emergency department (ED) with a holocranial headache, gait imbalance, and vomiting. A brain magnetic resonance imaging (MRI) was done and a rounded lesion was detected in the left cerebellar hemisphere, hypointense in T1 and hyperintense in T2, with annular contrast enhancement. Several hypotheses for diagnosis were made, and the patient was subjected to several therapies, with periods of remission of symptoms interleaved with periods of worsening. After imaging suggestive of hemangioblastoma on routine brain MRI, the tumor was excised surgically and the histopathology confirmed the diagnosis. In the control brain MRI exams performed six and 24 months after surgery, no evidence of tumor recurrence was detected, and the patient remained asymptomatic. In conclusion, although these are rare neoplasms, it is essential to always consider hemangioblastomas in the differential diagnosis of cases with compatible clinical and radiological findings. A wrong or late diagnosis may lead to the use of unnecessary and harmful therapies as well as the appearance of potentially preventable complications if these tumors are handled correctly and timely.
PubMed: 35242478
DOI: 10.7759/cureus.21713 -
Surgical Neurology International 2022Hemangioblastomas are benign tumors that develop in the central nervous system. They represent 1.5-2.5% of all intracranial tumors, and about 2-15% of all spinal cord...
BACKGROUND
Hemangioblastomas are benign tumors that develop in the central nervous system. They represent 1.5-2.5% of all intracranial tumors, and about 2-15% of all spinal cord tumors. They are highly associated with von Hippel-Lindau disease.
CASE DESCRIPTION
A 36-year-old female presented with a 4-year history of progressive right upper extremity distal weakness and cervical pain. The magnetic resonance imaging demonstrated a homogeneously, contrast enhancing intradural/intramedullary tumor at C6-C7 with perilesional edema and a syrinx accompanied by a cerebellar cyst with a mural nodule. Surgery included excision of the spinal lesion and decompression and excision of the cerebellar cyst and mural nodule (i.e., median suboccipital craniectomy and cervical C5-C7 laminectomy).
CONCLUSION
Surgery is the gold standard treatment for symptomatic hemangioblastomas, and surgical approaches should minimize risk.
PubMed: 35855144
DOI: 10.25259/SNI_525_2022