Hemangioblastoma: An Uncommon Cause of Polycythemia in a Child.

Polycythemia is a rare condition in children. Myeloproliferative neoplasms, including polycythemia vera although rare, is an important cause of childhood primary polycythemia. Secondary polycythemia is more common in children due to conditions causing hypoxia or due to pathologic erythropoietin production in malignancies like renal cell carcinoma, Wilms tumor or Hepatocellular carcinoma. Central nervous system hemangioblastoma is one of the rare causes of polycythemia. We report a 13-year-old girl with primarily neurological symptoms identified to be polycythemic during routine evaluation. Clinical examination and neuroimaging subsequently confirmed an intracranial space occupying lesion which was excised. Hemoglobin level normalized after tumor excision. This case report emphasizes the need for thorough systemic evaluation including central nervous system examination in children identified to be polycythemic. Keywords: CNS tumor; hemangioblastoma; polycythemia.

[Hypervascular Tumors such as Hemangioblastoma].

Hemangioblastomas are richly vascular tumors. Therefore, visualizing the vascular anatomy of their feeders and drainers is important for planning surgical excision. Preoperative three-dimensional computer graphic(3DCG)images are useful for determining the number, location, and course of their feeders and drainers.

A novel presentation of diaphragmatic flutter in a patient with obstructive sleep apnea and recurrent cerebellar hemangioblastoma.

We report a unique case of diaphragmatic flutter in a patient with obstructive sleep apnea who had no respiratory symptoms related to flutter and a history of recurrent cerebellar hemangioblastoma. The flutter was detected during a routine follow-up monitoring through the built-in software of the positive airway pressure device; the flow and pressure curves showed abnormal and curious oscillations. The ultrasound confirmed the diagnosis and ruled out other causes of abnormal diaphragmatic movements. This case report contributes to the scientific literature by presenting a novel case of diaphragmatic flutter associated with recurrent cerebellar hemangioblastoma. It also emphasizes the need for more research on the pathophysiology and treatment of this rare condition. CITATION: Ciorba C, Espinoza Perez JA, Alfonso Imizcoz M, Errasti Viader J, Cebollero Rivas P, De Vito EL. A novel presentation of diaphragmatic flutter in a patient with obstructive sleep apnea and recurrent cerebellar hemangioblastoma. J Clin Sleep Med. 2024;20(2):313-317.

A case report of cerebellar hemangioblastoma simulated brain metastasis shown by magnetic resonance imaging.

RATIONALE: Hemangioblastomas occur both sporadically and as an important component of von Hippel-Lindau (VHL) disease. The typical MRI features of hemangioblastoma are cysts with enhanced cystic wall nodules in the cerebellum or lesions with uniform enhancement on the surface or inside the spinal cord. If there is edema around hemangioblastoma, it is easy to be misdiagnosed as brain metastasis on MRI. PATIENT CONCERNS: A 41-year-old male patient was found to have a lump in the pancreas during a health examination 3 months ago. Subsequently, the patient underwent surgical treatment. The postoperative pathology suggests that the pancreatic lesion is a neuroendocrine tumor. The patient subsequently came to our hospital for consultation on further treatment plans. Abnormal signals were found in the right cerebellum during pituitary magnetic resonance imaging (MRI) before the development of a treatment plan for neuroendocrine tumors. Subsequently, the patient underwent cerebellar mass resection surgery. The pathological result after the surgery was hemangioblastoma. DIAGNOSIS: The patient underwent surgery to remove the tumor and was diagnosed with hemangioblastoma by pathological examination. Subsequently, the patient's genetic testing results confirmed the diagnosis of VHL syndrome. INTERVENTIONS: The patient underwent cerebellar mass resection surgery. OUTCOMES: The patient recovered after surgical resection. LESSONS: In this report, we emphasize the atypical MRI manifestations of hemangioblastoma. For patients with VHL syndrome-related hemangioblastoma, genetic testing is necessary for the patient and their family members.

How I do it: cervical hemangioblastoma resection. Surgical technique and complication avoidance.

BACKGROUND: Spinal cord hemangioblastomas are benign, highly vascular neoplasms that affect the brain and, rarely, the spinal cord. They can be solitary or as part of von Hippel-Lindau syndrome. Radiosurgery is not a suitable treatment option. Endovascular embolization can only be adjunct to surgery. METHOD: We present a detailed approach to resection of a spinal cord hemangioblastoma. A video demonstrates the microsurgical technique and discusses complication avoidance. CONCLUSION: The pitfalls to consider are preservation of normal spinal cord vessels, protection of the pia-arachnoid cleavage plane, and avoidance of tumor piecemeal removal. Careful microsurgical resection and detailed preoperative planning are key.

What Factors Predict the Development of Neurologic Deficits Following Resection of Intramedullary Spinal Cord Tumors: A Multi-Center Study.

BACKGROUND: Intramedullary spinal cord tumors are challenging to resect, and their postoperative neurological outcomes are often difficult to predict, with few studies assessing this outcome. METHODS: We reviewed the medical records of all patients surgically treated for Intramedullary spinal cord tumors at our multisite tertiary care institution (Mayo Clinic Arizona, Mayo Clinic Florida, Mayo Clinic Rochester) between June 2002 and May 2020. Variables that were significant in the univariate analyses were included in a multivariate logistic regression. "MissForest" operating on the Random Forest algorithm, was used for data imputation, and K-prototype was used for data clustering. Heatmaps were added to show correlations between postoperative neurological deficit and all other included variables. Shapley Additive exPlanations were implemented to understand each feature's importance. RESULTS: Our query resulted in 315 patients, with 160 meeting the inclusion criteria. There were 53 patients with astrocytoma, 66 with ependymoma, and 41 with hemangioblastoma. The mean age (standard deviation) was 42.3 (17.5), and 48.1% of patients were women (n = 77/160). Multivariate analysis revealed that pathologic grade >3 (OR = 1.55; CI = [0.67, 3.58], P = 0.046 predicted a new neurological deficit. Random Forest algorithm (supervised machine learning) found age, use of neuromonitoring, histology of the tumor, performing a midline myelotomy, and tumor location to be the most important predictors of new postoperative neurological deficits. CONCLUSIONS: Tumor grade/histology, age, use of neuromonitoring, and myelotomy type appeared to be most predictive of postoperative neurological deficits. These results can be used to better inform patients of perioperative risk.

Hemangioblastomas of the cauda equina: Clinical features and long-term surgical outcomes.

BACKGROUND: Spinal hemangioblastomas (HBs) that involving cauda equina are rare. Data on clinical characteristics and long-term intervention outcomes of patients harboring cauda equina HBs remain lacking due to its scarcity. OBJECTIVE: This study aims to present the clinical-radiological features and treatment results of this rare pathology by using cases from a single center. METHODS: A review of demographic data and intervention outcomes of patients harboring cauda equina HBs in our department between 2009 and 2020 was retrospectively carried out. RESULTS: Ten consecutive adult patients were incorporated, with a slight female predominance (n = 6, 60%). The mean age was 39.9 ± 14.7 (range: 18-58) years. Six patients (60%) had von Hippel‒Lindau (VHL) syndrome and showed multiple symptoms and severe neurological deficits, while 4 (40%) were in the sporadic group and only presented pain symptoms. During follow-up, 3 patients (30%) experienced lesion relapse and underwent repeated surgery. Favorable outcomes were achieved in all patients. CONCLUSION: Cauda equina HBs are rare spinal vascular lesions that should be differentiated from other lumbar canal lesions. Total surgical resection is the main treatment modality and can benefit patients, even recurrent patients. The treatment outcome is usually satisfactory, especially in sporadic cases.

Analysis of upfront resection or stereotactic radiosurgery for local control of solid and cystic cerebellar hemangioblastomas.

OBJECTIVE: The purpose of this study was to identify rates of and risk factors for local tumor progression in patients who had undergone surgery or radiosurgery for the management of cerebellar hemangioblastoma and to describe treatments pursued following tumor progression. METHODS: The authors conducted a retrospective single-center review of patients who had undergone treatment of a cerebellar hemangioblastoma with either surgery or stereotactic radiosurgery (SRS) between 1996 and 2019. Univariate and multivariate regression analyses were performed to examine factors associated with local tumor control. RESULTS: One hundred nine patients met the study inclusion criteria. Overall, these patients had a total of 577 hemangioblastomas, 229 of which were located in the cerebellum. The surgical and SRS cohorts consisted of 106 and 123 cerebellar hemangioblastomas, respectively. For patients undergoing surgery, tumors were treated with subtotal resection and gross-total resection in 5.7% and 94.3% of cases, respectively. For patients receiving SRS, the mean target volume was 0.71 cm3 and the mean margin dose was 18.0 Gy. Five-year freedom from lesion progression for the surgical and SRS groups was 99% and 82%, respectively. The surgical and SRS cohorts contained 32% versus 97% von Hippel-Lindau tumors, 78% versus 7% cystic hemangioblastomas, and 12.8- versus 0.56-cm3 mean tumor volumes, respectively. On multivariate analysis, factors associated with local tumor progression in the SRS group included older patient age (HR 1.06, 95% CI 1.03-1.09, p < 0.001) and a cystic component (HR 9.0, 95% CI 2.03-32.0, p = 0.001). Repeat SRS as salvage therapy was used more often for smaller tumor recurrences, and no tumor recurrences of < 1.0 cm3 required additional salvage surgery following repeat SRS. CONCLUSIONS: Both surgery and SRS achieve high rates of local control of hemangioblastomas. Age and cystic features are associated with local progression after SRS treatment for cerebellar hemangioblastomas. In cases of local tumor recurrence, salvage surgery and repeat SRS are valid forms of treatment to achieve local tumor control, although resection may be preferable for larger recurrences.

Stereotactic Radiosurgery for Cranial and Spinal Hemangioblastomas: A Single-Institution Retrospective Series.

BACKGROUND AND OBJECTIVES: Stereotactic radiosurgery (SRS) has been an attractive treatment modality for both cranial and spinal hemangioblastomas, especially for multiple lesions commonly associated with von Hippel-Lindau (VHL) disease. This study aims to provide the largest long-term analysis of treatment efficacy and adverse effects of SRS for cranial and spinal hemangioblastomas at a single institution. METHODS: We evaluated the clinical and radiological outcomes of patients with hemangioblastomas treated with CyberKnife SRS at our institute from 1998 to 2022. The follow-up data were available for 135 hemangioblastomas in 35 patients. Twenty-eight patients had 123 hemangioblastomas associated with VHL, and 7 had 12 sporadic hemangioblastomas. The median age was 36 years, and the median tumor volume accounted for 0.4 cc. The SRS was administered with the median single-fraction equivalent dose of 18 Gy to the 77% median isodose line. RESULTS: At a median follow-up of 57 months (range: 3-260), only 20 (16.2%) of the VHL-associated and 1 (8.3%) sporadic hemangioblastomas progressed. The 5-year local tumor control rate was 91.3% for all hemangioblastomas, 91.7% among the sporadic lesions, and 92.9% in patients with VHL. SRS improved tumor-associated symptoms of 98 (74.8%) of 131 symptomatic hemangioblastomas, including headache, neck pain, dizziness, visual disturbances, dysesthesia, ataxia, motor impairment, seizures, and dysphagia. Two patients developed radiation necrosis (5.7%), and 1 of them required surgical resection. CONCLUSION: SRS is a safe and effective treatment option for patients with hemangioblastomas in critical locations, such as the brainstem, cervicomedullary junction, and spinal cord, and in patients with multiple hemangioblastomas associated with VHL disease.

VHL: Trends and Insight into a Multi-Modality, Interdisciplinary Approach for Management of Central Nervous System Hemangioblastoma.

Von Hippel-Lindau (VHL) is a multi-system disease which results in significant morbidity from central nervous system (CNS) involvement as well as ocular, renal and neuro-endocrine effects. Haemangioblastomas of the CNS present a number of challenges. The natural history of these lesions is varied, as is the size and location within the CNS. Whilst surgery is considered the mainstay of treatment and best chance at curing these lesions, this is also often associated with significant risks due to the anatomical location of these lesions, most commonly the posterior fossa and spinal cord.We review the literature and describe our experience across two separate European VHL referral centres. Alternative treatment options and combined modalities are increasingly being used in the context of managing CNS haemangioblastomas. We analyse the increasing use of stereotactic radiosurgery and the evolution of medical treatments as potential future adjuncts to surgery. The availability of multiple modalities in our armamentarium is essential in tailoring a personalised treatment approach to these patients. Owing to the multi-systemic nature of the disease, in our experience, managing the care of patients with VHL is best delivered using an interdisciplinary approach utilising multiple specialties and adopting an individually tailored holistic approach.

Assessing the efficacy and safety of hemangioblastoma embolization: A comprehensive systematic review and meta-analysis.

BACKGROUND: Hemangioblastomas (HBs) are highly vascular tumors linked to substantial morbidity and mortality. Recently, interventional neuroradiology has evolved rapidly, spurring interest in preoperative embolization as a possible HB treatment. PURPOSE: This study evaluates the effectiveness and safety of preoperative embolization in managing HB. METHODS: Adhering to PRISMA guidelines, this meta-analysis considered randomized and nonrandomized studies meeting specific criteria, encompassing intracranial HB and preoperative embolization. Primary outcomes were preoperative embolization efficacy and safety. Complications were classified as major (cerebellar ischemia, ischemic strokes, intratumoral hemorrhage, subarachnoid hemorrhage) and minor (transient nystagmus, slight facial nerve palsy, nausea, transient dysarthria, hemiparesis, hemisensory impairment, thrombotic complications, extravasation). RESULTS: Thirteen studies involving 166 patients with preoperative embolization before HB resection were included. Two studies using the Glasgow Outcome Scale (GOS) showed 5 patients with good recovery, 6 with moderate disability, and 3 with severe disability. Major complications occurred in 1% (95% CI: 0% to 3%), and minor complications occurred in 1% (95% CI: 0% to 4%). Intraoperative blood loss during resection was estimated at 464.29 ml (95% CI: 350.63 ml to 614.80 ml). CONCLUSION: Preoperative embolization holds promise in reducing intraoperative bleeding risk in neurosurgical intracranial HB treatment, primarily due to its low complication rates. Nonetheless, additional research and larger-scale studies are essential to establish its long-term efficacy and safety. These findings highlight preoperative embolization as a valuable tool for HB management, potentially enhancing future patient outcomes.

Surgical and visual outcomes after vitreoretinal surgery for complex retinal capillary hemangioblastoma.

Purpose: We evaluated the anatomical and functional outcomes after vitreoretinal surgery for complex retinal capillary hemangioblastoma (RCH). Methods: This was a retrospective case series of 15 patients (16 eyes) with tractional or combined retinal detachment (RD) managed with pars plana vitrectomy and tumor endoresection (ER) with/without feeder vessel ligation. Results: The mean age at the time of surgery was 30 years (range, 14-46 years). The most common tumor locations were inferotemporal (six eyes) and temporal (six eyes) quadrants. Indications for surgery included exudative RD with fibrovascular proliferation (eight eyes), combined RD (five eyes), vitreous hemorrhage (four eyes), and rhegmatogenous RD (two eyes). Tumor destruction was performed with laser and/or cryotherapy in nine eyes (57%) and ER in seven eyes (43%). Feeder vessel was ligated and cauterized in 10 (63%) and six eyes (37%), respectively. Anatomical success after initial surgery was 50% (eight eyes), which improved to 88% (14 eyes) after they underwent a repeat procedure for recurrent RD (eight eyes). At the last visit, visual acuity improved in seven eyes (44%), was stable in four eyes (25%), and worsened in five eyes (31%) with a mean follow-up of 29 months (6-79 months). Comparison between the ER group and the laser/cryotherapy group revealed no significant difference in final retinal reattachment rate (89% vs. 86%, P > 0.05), with better visual outcomes in laser/cryotherapy group (57% vs. 78%, P < 0.05). Conclusion: Pars plana vitrectomy with/without tumor endoresection can be a safe and effective treatment option for complex RCHs, achieving good tumor control and anatomical success with limited functional success.

Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.

PURPOSE: Von Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in the CNS and retina, and renal carcinomas. The natural history of VHL disease is variable, differing in the age of onset and its penetrance, even among relatives. Unfortunately, sometimes VHL shows more severe than average: the onset starts in adolescence, and surgeries are required almost every year. In these cases, the factor that triggers the appearance and growth of Hbs usually remains unknown, although additional mutations are suspected. METHODS: We present the case of a VHL patient whose first surgery was at 13 years of age. Then, along his next 8 years, he has undergone 5 surgeries for resection of 10 CNS Hbs. To clarify this severe VHL condition, DNA from a CNS Hb and white blood cells (WBC) was sequenced using next-generation sequencing technology. RESULTS: Massive DNA sequencing of the WBC (germ line) revealed a pathogenic mutation in CHEK2 and the complete loss of a VHL allele (both tumour suppressors). Moreover, in the tumour sample, several mutations, in BRAF1 and PTPN11 were found. Familiar segregation studies showed that CHEK2 mutation was in the maternal lineage, while VHL was inherited by paternal lineage. CONCLUSIONS: Finally, clinical history correlated to the different genotypes in the family, concluding that the severity of these VHL manifestations are due to both, VHL-and-CHEK2 mutations. This case report aims to notice the importance of deeper genetic analyses, in inherited rare diseases, to uncover non-expected mutations.

[Stereotactic irradiation for optic nerve hemangioblastoma associated with Von Hippel-Lindau disease: a case report and literature review]. / Stereotaksicheskoe obluchenie gemangioblastomy zritel'nogo nerva, assotsiirovannogo s bolezn'yu fon Gippelya­Lindau: klinicheskii sluchai i obzor literatury.

Hemangioblastoma is a benign tumor of the central nervous system arising sporadically or as a component of Von Hippel-Lindau disease. Von Hippel-Lindau disease is a rare autosomal dominant hereditary syndrome with various phenotypes caused by VHL gene variants. To date, only about 40 cases of optic nerve hemangioblastoma have been described in the literature. Stereotactic irradiation may be effective for supratentorial hemangioblastomas including lesions of optic nerves. The authors describe a rare case of stereotactic irradiation of intraorbital hemangioblastoma of the optic nerve in a patient with Von Hippel-Lindau disease.

Clear Cell Renal Cell Carcinoma with Hemangioblastoma-Like Features: A Case Report.

BACKGROUND: Clear cell renal cell carcinoma (ccRCC) constitutes the most frequently encountered sporadic class of kidney cancer in adults. Recently, a rare form of clear cell kidney cancer known as ccRCC with hemangioblastoma-like features was proposed, with unique immunological characteristics and a good prognosis. The tumor expressed alpha-inhibin and carbonic anhydrase Ⅸ (CA9) as examined by immunohistochemistry. METHODS: Herein, we report a clinical instance of ccRCC with hemangioblastoma-like features. A 49-year-old woman presenting with a chief complaint of hematuria underwent a comprehensive and meticulous assessment. Imaging findings indicated the presence of a mass in the right kidney. Subsequently, she underwent a partial nephrectomy. RESULTS: Histopathological analysis of the resected specimen confirmed the presence of ccRCC with hemangioblastoma-like features. The patient was discharged from the hospital six days post-surgery and could resume her daily activities. During a one-year follow-up after surgery, no signs of recurrence were detected. CONCLUSIONS: This case demonstrates the importance of including ccRCC with hemangioblastoma-like features in the differential diagnosis of renal masses in patients with hematuria, and suggests partial nephrectomy as an effective treatment modality for this rare subtype of renal cell carcinoma. However, because of the small number of reported cases and insufficient follow-up time, further investigation is necessary to determine the optimal therapeutic approach and to identify the molecular and genetic characteristics of this tumor.

Resection of Intramedullary Hemangioblastoma: Timing of Surgery and Its Impact on Neurological Outcome and Quality of Life.

Background and Objectives: Spinal intramedullary hemangioblastomas (SIMH) are benign vascular lesions that are pathological hallmarks of von Hippel-Lindau disease (vHL) and constitute the third most common intramedullary neoplasm in adults. So far, maximal and safe resection is the first choice of treatment. However, as SIMH show no malignant transformation, it remains unclear whether surgical resection is beneficial for all patients. Materials and Methods: We retrospectively analyzed the surgical outcomes of 27 patients who were treated between 2014 and 2022 at our neurosurgical department and investigated potential risk factors that influence the surgical outcome. Pre- and postoperative neurological status were classified according to the McCormick scale. Furthermore, surgical quality indicators, such as length of hospital stay (LOS; days), 90-day readmissions, nosocomial infections, and potential risk factors that might influence the surgical outcome, such as tumor size and surgical approach, have been analyzed. In addition to that, patients were asked to fill out the EQ-5D-3L questionnaire to assess their quality of life after surgery. Results: Surgery on SIMH patients that display no or minor neurological deficits (McCormick scale I or II) is associated with a favorable postoperative outcome and overall higher quality of life compared to those patients that already suffer from severe neurological deficits (McCormick scale III or IV). Conclusion: Early surgical intervention prior to the development of severe neurological deficits may offer a better neurological outcome and quality of life.

Clear Cell Renal Cell Carcinoma with Hemangioblastoma-Like Features: A Case Report

Abstract Background: Clear cell renal cell carcinoma (ccRCC) constitutes the most frequently encountered sporadic class of kidney cancer in adults. Recently, a rare form of clear cell kidney cancer known as ccRCC with hemangioblastoma-like features was proposed, with unique immunological characteristics and a good prognosis. The tumor expressed alpha-inhibin and carbonic anhydrase Ⅸ (CA9) as examined by immunohistochemistry. Methods: Herein, we report a clinical instance of ccRCC with hemangioblastoma-like features. A 49-year-old woman presenting with a chief complaint of hematuria underwent a comprehensive and meticulous assessment. Imaging findings indicated the presence of a mass in the right kidney. Subsequently, she underwent a partial nephrectomy. Results: Histopathological analysis of the resected specimen confirmed the presence of ccRCC with hemangioblastoma-like features. The patient was discharged from the hospital six days post-surgery and could resume her daily activities. During a one-year follow-up after surgery, no signs of recurrence were detected. Conclusions: This case demonstrates the importance of including ccRCC with hemangioblastoma-like features in the differential diagnosis of renal masses in patients with hematuria, and suggests partial nephrectomy as an effective treatment modality for this rare subtype of renal cell carcinoma. However, because of the small number of reported cases and insufficient follow-up time, further investigation is necessary to determine the optimal therapeutic approach and to identify the molecular and genetic characteristics of this tumor (AU)

A bibliometric analysis of the top 100 cited articles for hemangioblastoma of the central nervous system.

Hemangioblastoma is a rare benign tumor that can affect the central nervous system sporadically or in association with von Hippel-Lindau (VHL) syndrome. Despite the advances in the medical field, hemangioblastoma still has a significant morbidity and mortality burden. This review gathered and analyzed this entity's top one hundred cited articles. The Scopus database was screened using the following keywords ("Hemangioblastoma" OR "Haemangioblastoma" OR "Hemangioblastomata"). The results were sorted by citation count, highest to lowest. Articles discussing hemangioblastoma of the central nervous system were included. Two independent reviewers extracted the article-, author-, and Journal-based data. Articles were classified into four categories: clinical features/ natural history, treatment, histopathology, review, or radiology. The location, brain, spine, or both, and type, sporadic, VHL-associated, or both, were used to classify the articles. The search query resulted in 4023 articles, and the top 100 most cited articles were included. The number of citations totaled 8781, averaging 87.81 CC per article. The included papers were published in 41 different journals between 1952 and 2014 by more than 11 departments from 65 institutions and 16 countries. The number of citations ranged from 46 to 333. The peak publication activity was before the 2000s, contributing to 62% of all articles, and the most prolific decade was 1990-2000, with 37 publications. We conducted a comprehensive bibliometric analysis of data from the most influential publications on central nervous system hemangioblastoma. We identified publication dynamics and research gaps. More high-impact studies are warranted to enhance disease comprehension and management.