Percutaneous microwave ablation on management of hereditary renal cell carcinoma in Von Hippel-Lindau disease.

BACKGROUND: The effect of microwave ablation (MWA) for the renal cell carcinoma (RCC) in Von Hippel-Lindau (VHL) disease is unclear. OBJECTIVE: To assess the safety, Technique efficacy, renal function and oncological outcome of MWA for RCC in VHL patients. METHODS: Consecutive patients with RCCs in VHL disease treated by MWA were retrospectively collected from November 2009 to October 2020. The technical efficacy rate and complications were assessed. The outcomes of pre- and post-ablative eGFR were compared. The local recurrent-free survival (LRFS), renal-cancer-free survival (RCFS), cancer-specific survival (CSS), overall survival (OS) and complications were presented. RESULTS: A total of 10 patients (mean age, 39.0 years ± 10.7 [SD]; 3 women) with 28 RCCs (mean tumor size, 3.0 cm ± 0.34; mean tumor volume, 20.7 mL ± 43.3) treated with MWA were included. Th median follow-up time was 52 months(IQR:27-80). The overall technical efficacy rate was 100% with no major complications occurred. No significant statistical difference between pre-ablative and postablative creatinine level (102.0 µmol/L ± 30.4 vs 112.3 µmol/L ± 38.7, p = 0.06), but the pre-ablative eGFR level was significantly higher than the post-ablative eGFR (78.0 mL/(min*1.73m2) ± 28.6 vs 72 mL/(min*1.73m2) ± 31.4, p = 0.04), with the mean decrease of 5.86 ml/(min*1.73m2). The local recurrent-free survival(LRFS) and renal-cancer-free survival (RCFS) were 100% and 60%, respectively. The cancer specifical survival (CSS) and overall survival (OS) were 95.5% and 100%, respectively. CONCLUSION: Microwave ablation is a safe and feasible method for the treatment of RCC in VHL disease, preserving renal function and yielding satisfactory oncological outcomes.

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.

Management of Renal Malignancies in Von Hippel-Lindau Syndrome: Lessons Learned from a Series of Six Patients from Sri Lanka.

Management of renal malignancies in Von Hippel-Lindau (VHL) is challenging. We present six patients [mean age = 35.1 years (range: 24-54), males = 5] with VHL syndrome with multiple bilateral renal malignancies and the lessons learned during their management. The number of tumors at the time of presentation ranged from 1 to 6, while the number of new lesions varied from 1 to 3. Different combinations of radical nephrectomy (n = 2), partial nephrectomy (n = 7), and focal therapy (n = 6) were used appropriately. Median follow-up was 36 months (range: 12-72). Two patients developed new lesions which were managed with focal therapy. Nephron-sparing approaches are successful even in bilateral, multifocal, large, and recurring renal tumors associated with VHL. Awareness about the availability of efficacious surgical and minimally invasive measures would reduce psychosocial problems faced by patients and their families due to the social stigma associated with malignancies running in a family and burden of renal replacement therapy.

[Surgical treatment of pheochromocytoma].

This review article contains a summary of modern aspects of preoperative preparation, surgical treatment, and follow-up of patients with adrenal pheochromocytomas. The main component of preoperative preparation is the use of alpha-blockers. The need to prescribe them to all patients is increasingly disputed, especially for patients without severe hypertension. An increasing number of publications demonstrate positive results of treatment without the use of alpha-blockers, advocating an individual approach and the use of the drug according to certain indications. Minimally invasive endoscopic techniques of adrenalectomy have become widespread in surgical treatment. They are represented by laparoscopic and retroperitonescopic technic, including using their single-port modifications. The earliest possible intersection of the central vein in the past was considered the most important aspect of adrenalectomy for pheochromocytoma, currently, due to the development of surgical techniques and anesthesiological manuals, this has ceased to be a mandatory rule of successful surgery. Despite the significant influence of the intersection of this vessel on intraoperative hemodynamics, surgical tactics with its later intersection have their own justifications and do not lead to a deterioration in treatment results. The standard volume of surgical intervention for pheochromocytomas is total adrenalectomy, however, in the presence of hereditary syndromes, such as multiple endocrine neoplasia type 2 syndrome, neurofibomatosis type 1, von Hippel-Lindau syndrome, it is possible to perform cortical-sparing adrenalectomy.

Outcomes of and indications for renal transplantation in patients with von Hippel Lindau disease.

INTRODUCTION AND OBJECTIVE: Von Hippel-Lindau (VHL) is a hereditary cancer syndrome characterized by bilateral, multifocal renal masses. The cumulative impact of extirpative surgery can depreciate renal function and render patients anephric. In the larger end-stage renal disease population, renal transplant offers both excellent quality of life and functional renal replacement. This case control study aims to examine and compare oncologic and functional outcomes of patients who have undergone renal transplant as renal replacement therapy (RRT) to those who remain anephric. METHODS: Patient charts were retrospectively reviewed of patients with germline testing confirmed VHL between 1980 and 2022 for transplant, all prior surgical history (within and outside the NCI), renal function and graft outcomes. Overall survival (OS) was determined from years after radical nephrectomy, and graft time was defined as years of graft function from initial transplant until failure or patient death. Graft survival was determined as time between transplant(s) to last follow up. Kaplan-Meier analysis was conducted to compare graft times of anephric VHL patients to those with transplanted kidneys. RESULTS: A total of 23 VHLD patients were identified as either anephric or candidates for transplant. Out of this cohort, 11 total VHLD received 12 total kidney grafts. Median wait time from nephrectomy to transplant was 22.6 months (IQR: 1.02-40.25 months). Median age at transplant was 32 years (IQR: 23-54 years). OS at 5 and 10 years of anephric patients who did not receive a transplant was 33% and 16.7%, respectively. OS rates of the transplant cohort at 10, 15, and 20 years were 91%, 78%, and 58% years, respectively. Median graft time was 161 months (IQR: 56-214 months). Graft survival at 10, 15, and 20 years was 69.8%, 69.8%, and 26.2%, respectively. CONCLUSIONS: We demonstrate that transplant recipients have decreased mortality with no difference in cancer recurrence compared to those who do not receive renal transplant for RRT. This data can aid in informing providers of the optimal window for early RRT planning in VHL, while also improving patient counseling.

[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.

Robot-assisted sutureless partial nephrectomy for the treatment of fifteen bilateral renal masses in a patient with Von Hippel-Lindau syndrome: a case report from a high-volume robotic center.

Renal cell carcinoma is among major causes of death in patients with Von Hippel-Lindau (VHL) syndrome, and it usually presents with multiple and bilateral lesions that may require multiple renal surgeries. This, in turn, may compromise renal function, resulting in end-stage renal disease. To minimize renal function impairment in these patients, great importance is given to the preservation of functional parenchyma with the use of nephron-sparing techniques. Furthermore, new techniques such as off-clamp surgery, selective suturing or sutureless techniques may improve long-term functional outcomes. We described the case of a 27-year-old male patient with a family history of VHL disease affected by multiple, bilateral renal masses. He received bilateral, metachronous robot-assisted partial nephrectomies (RAPN) for a total of 15 renal lesions. No intra- or post-operative complications occurred, and the patient was discharged on the second postoperative day after both procedures. Serum creatinine after the second RAPN was 0.99 mg/dl (baseline value was 1.11 mg/dl). In patients with VHL syndrome and multiple renal lesions, robot-assisted partial nephrectomy, especially with the use of clampless and sutureless techniques, helps minimizing renal function impairment and should be performed when anatomically and technically feasible.

Surgical management of endolymphatic sac tumor: classification, outcomes and strategy. A single institution's experience.

PURPOSE: To review the resections of endolymphatic sac tumor (ELST) and describe our experience in the surgical management of ELST. METHODS: Retrospective investigation of consecutive patients who underwent resection of ELSTs at our hospital between 1999 and 2019. The symptoms, diagnosis, surgical findings, and outcomes were analyzed to develop a tumor staging system and corresponding surgical strategy. RESULTS: Retrospective review revealed the surgical treatment of 22 ELSTs. Based on intraoperative findings of tumor extent and size, ELSTs were classified into two types. Type-I (n = 6) referred to the small tumors that were locally confined with limited invasion of semicircular canals and dura; type-II (n = 16) referred to the large tumors that presented extensive erosion of at least one anatomic structure apart from the semicircular canals and the dura around endolymphatic sac. In this case series, Type-I ELST is amenable to resection through a transmastoidal approach, and subtotal petrosectomy is appropriate for the resection of type-II ELST. Sensorineural hearing loss (SNHL) is the most commonly preoperative symptom in both two types of cases. Five type-II ELSTs experienced recurrence and underwent reoperation, whereas all type-I ELSTs did not. CONCLUSION: ELST usually results in SNHL (95%) at the time of diagnosis. The surgical strategy and prognosis of ELST resections are different between type-I and type-II: type-I ELST is amenable to transmastoidal approach with the preservation of facial nerve, whereas type-II ELST increase the surgical difficulty and the risk of recurrence, and subtotal petrosectomy is the basic requirement for the resection of type-II ELST.

Perioperative Surgical Risks in Patients With Hemangioblastomas: A Retrospective Nationwide Review in Japan.

BACKGROUND: The perioperative risk of sporadic hemangioblastomas (HBs) and von Hippel-Lindau disease (VHL)-associated hemangioblastomas (VHL-associated HBs) remains unclear due to the rare prevalence of HB. Therefore, this study aimed to clarify risk factors for better surgical management of patients with HBs. METHODS: A retrospective analysis of surgically treated HB patients registered in the Diagnosis Procedure Combination database of Japan, between 2010 and 2015, was performed. Age, sex, sporadic HBs or VHL-associated HBs, medical history, tumor location, hospital case load, postoperative complications, and Barthel index (BI) deterioration were assessed. We also evaluated the outcomes and factors of perioperative BI deterioration. RESULTS: In total, 676 patients with 609 intracranial lesions, 64 spinal lesions, and 3 with both types were eligible. Among them, 618 and 58 patients had sporadic HBs and VHL-associated HBs, respectively. The rates of perioperative BI deterioration were 12.5% and 12.2% for sporadic HBs and VHL-associated HBs, respectively. Perioperative mortality was 1.8% and 0% for sporadic HBs and VHL-associated HBs, respectively. Male sex, old age, high hospital case load, and medical history of diabetes mellitus were significantly associated with perioperative BI deterioration in all cases and sporadic HBs. Only medical history of diabetes mellitus was a significant risk factor for perioperative BI deterioration in VHL-associated HBs. CONCLUSIONS: No differences in perioperative BI deterioration rates between sporadic HBs and VHL-associated HBs were found. However, different risk factors for perioperative BI deterioration were identified. Consideration of these risk factors is recommended in all patients undergoing surgery for HB.

PANCREATODUODENECTOMY IN PATIENT WITH VON HIPPEL-LINDAU DISEASE: A LITERATURE REVIEW.

BACKGROUND: The von Hippel-Lindau disease is a highly penetrant autosomal dominant syndrome characterized by tumor predisposition in different organs. AIM: This study aimed to describe a case of a pancreatoduodenectomy for a 30-year-old male patient with von Hippel-Lindau disease. METHODS: We present a case study and the literature review aiming at the state-of-the-art management of a patient with pheochromocytoma, capillary hemangioblastoma in the peripheral retina, and two neuroendocrine tumors in the pancreas. RESULTS: A larger pancreatic lesion was located in the uncinate process, measuring 31 mm. The smaller lesion was located in the proximal pancreas and was detected only on the positron emission tomography-computed tomography scan with DOTATOC-68Ga. Genetic investigation revealed a mutation in the locus NM_000551.3 c.482G>A (p.Arg161Gln) of the Von Hippel-Lindau Human Suppressor gene. The uncinate process tumor was larger than 30 mm and the patient had a mutation on exon 3; therefore, we indicated a pancreatoduodenectomy involving the proximal pancreas to resect both tumors en bloc. During the postoperative period, the patient presented a peripancreatic fluid collection, which was treated as a grade B pancreatic fistula with clinical resolution of the complication. On postoperative day 21, he was discharged home. CONCLUSION: The management of patients with von Hippel-Lindau disease and pancreatic neuroendocrine tumors is complex and must be centered on tertiary institutions with a large volume of pancreatic surgery. Although the current literature assists in decision-making in most situations, each step of the treatment requires analysis and discussion between different medical specialties, including surgeons, clinicians, radiologists, and anesthesiologists.

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

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.

Symptoms and clinical features in patients affected by endolymphatic sac tumor: a systematic review and meta-analysis.

PURPOSE: Most ELST data in the literature are case studies or limited to small cohorts (< 16 patients). We evaluated the main clinical signs observed at endolymphatic sac tumor (ELST) diagnosis in patients with or without Von Hippel-Lindau disease. METHODS: We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science. We included studies with at least 1 patient, of any age, affected by sporadic or VHL-related ELSTs reporting levels of hearing loss and facial nerve function and a comprehensive description of presenting symptoms at ELST diagnosis. We combined data for proportional meta-analysis. p values of 0.05 were considered statistically significant. Methodological quality was evaluated. Analyses were performed with MedCalc 14.8.1 software. RESULTS: A total of 26 studies, including 113 patients and 118 cases of ELSTs were included. Pooled proportion rates (95% CI) of overall hearing loss was 88.7%, (82.4-93.4), severe hearing loss was 21.6% (12.8-32.1) profound hearing loss was 39.8% (28.7-51.5), vertigo/imbalance was 42.0% (33.8-50.5), tinnitus was 61.8% (53.4-69.8) and facial nerve palsy was 30.6% (23.2-38.9). Generally, symptoms were homogeneous or moderately heterogeneous among included studies. CONCLUSION: This is the first systematic review of clinical presentations at ELST diagnosis. The most serious clinical events include profound hearing loss and facial impairment. Fluctuating hearing loss, tinnitus and vertigo are frequently reported and may confound correct and prompt ELST diagnosis.

Synchronous or metachronous presentation of pancreatic neuroendocrine tumor versus secondary lesion to pancreas in patients affected by renal cell carcinoma. Systematic review.

The simultaneous or metachronous occurrence of pancreatic neuroendocrine tumor (panNET) and renal cell carcinoma (RCC) may represent a rare coincidence or a manifestation of von Hippel-Lindau disease (VHL). These two malignancies share both radiological and cytopathological features, making the differential diagnosis very challenging. In this review, we collected all cases of concurrent diagnosis of localized panNET and RCC, with or without VHL, as reported in the literature to date. We aimed to provide an insight into the differential diagnosis between panNET and RCC pancreatic metastasis with a focus on the optimal therapeutic algorithm depending on the diagnosis. We performed literature research in PubMed library databases for articles about coexisting panNET and RCC published from 2001 to 2018. We selected nine articles with a total of 13 patients, including one treated at our institution. Patients' median age was 49 years and eight out of 13 patients were women. VHL was diagnosed in nine cases. Most patients underwent radical nephrectomy for RCC (9/13) and a clear cell renal carcinoma variant was identified in six cases. The diagnosis of panNET was synchronous with RCC detection in nine cases and metachronous in four cases. The diameter of the pancreatic lesion was >2 cm in six cases. In two cases the panNET was misdiagnosed as metastatic RCC by radiological tests. Somatostatin receptor scanning was performed only in our patient (Octreoscan) showing intense uptake in the pancreatic mass. Endoscopic ultrasound fine needle aspiration of the pancreatic lesion was performed in four patients: in two cases the panNET was confused with metastatic RCC by cytological analysis. Most patients underwent pancreatic surgery (10/13) without histological confirmation. Clear cell panNET was recognized in six cases, while mixed neuroendocrine non-neuroendocrine neoplasm was diagnosed in one patient. Immunohistochemistry (IHC) staining showed positivity to typical neuroendocrine markers (chromogranin A and synaptophysin) in all reported tested cases (8/8). Three patients underwent systemic treatment: two patients received sunitinib and one patient interleukin-2 (IL-2). Other neoplasms were observed in seven patients, of whom six were affected by VHL syndrome. When neoplastic lesions are recognized in both the kidney and pancreas, panNET and RCC pancreatic metastasis are often misdiagnosed due to similar radiological and cytopathological features. An accurate differential diagnosis is crucial and IHC plays a central role in distinguishing the two entities. The therapeutic algorithm may change depending on the diagnosis: while pancreatic RCC metastases benefit from resection, in panNETs and VHL the indication for surgery must be carefully evaluated.

Multimodal image-guided ablation on management of renal cancer in Von-Hippel-Lindau syndrome patients from 2004 to 2021 at a specialist centre: A longitudinal observational study.

OBJECTIVES: To analyse the safety, technical feasibility, long-term renal function and oncological outcome of multimodal technologies in image-guided ablation (IGA) for renal cancer in Von-Hippel-Lindau (VHL) patients, and to evaluate factors that may influence the outcome. METHODS: Retrospective analysis of a prospective database of VHL patients who underwent IGA at a specialist centre. Patient's demographics, treatment energy, peri-operative outcome and oncological outcomes were recorded. Statistical analysis was performed to determine factors associated with complication and renal function reduction. The overall, 5 and 10-year cancer specific (CS), local recurrence-free (LRF) and metastasis-free (MF) survival rates were presented with Kaplan-Meier Curves. RESULTS: From 2004 to 2021, 17 VHL patients (age 21-68.2) with a mean (±SD) RCC size of 2.06 ± 0.92 cm received IGA. Median (IQR) RCCs per patient was 3 (2-4) over the course of follow up. Fifty-four RCCs were treated using radiofrequency ablation (n = 11), cryoablation (n = 38) and irreversible electroporation (n = 8) in 50 sessions. Primary and overall technical success rate were 94.4% (51/54) and 98% (53/54). One CD-III complication with proximal ureteric injury. Five patients in seven treatment sessions experienced a >25% reduction of eGFR immediately post-IGA. All patients have preservation of renal function at a median follow-up of 79 (51-134) months. The 5 and 10-year CS, LRF and MF survival rates are 100%, 97.8% and 100%. Whilst, the 5 and 10-year overall survival rate are100% and 90%. CONCLUSION: Multimodal IGA of de novo RCC for VHL patients is safe and has provided long term preservation of renal function and robust oncological durability.

Spinal hemangioblastomas: analysis of surgical outcome and prognostic factors.

The prognostic factors for surgically removed spinal hemangioblastomas, the impact of VHL disease on outcome, and the role of intraoperative neuromonitoring are still not completely clear. The aim of this study was to review our experience with spinal hemangioblastomas in order to assess potential predictors of neurological outcome after surgery. All cases of spinal hemangioblastomas removed at two Italian academic institutions from 1985 to 2020 were reviewed. Data about clinical presentation and symptom duration, diagnosis of VHL, surgical approach, use of IONM, duration of hospital stay, follow-up, and modified McCormick grade before and after surgery were extracted. Sixty-one patients (31 F, 30 M) underwent 69 surgeries to remove 74 spinal hemangioblastomas (37 cervical, 32 thoracic, 5 lumbar). Improvement was found in 32.3% of cases, neurological condition remained stable in 51.6% of cases, and deteriorated in 16.1% of patients. A worsening trend in VHL patients and an improvement trend in non-VHL patients were detected, despite the lack of statistical significance. Laminotomy and use of IONM were found to be associated with better outcome, although no association was found between surgery without IONM and worse outcome. In most cases, patients affected by spinal hemangioblastomas can expect a good long-term outcome. In our experience, laminotomy seems to be associated with better outcome compared to laminectomy. While its absence is not associated with worse outcome, IONM seems to be associated with a better neurological outcome. Our study suggests that the more impaired the preoperative neurological condition, the worse the outcome.

MASSIVE RETINAL NEOVASCULARIZATION IN VON HIPPEL-LINDAU DISEASE: ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR, VITRECTOMY, IMMUNOHISTOCHEMISTRY, AND OPTICAL COHERENCE TOMOGRAPHY FEATURES.

PURPOSE: To report a rare presentation of ocular von Hippel-Lindau disease associated with a massive epiretinal vascular proliferation over the macula removed by vitrectomy and submitted to histological analysis. METHODS: Interventional case report. RESULTS: A 13-year-old woman with von Hippel-Lindau disease reported progressive visual loss in the right eye over the preceding 6 months. Best-corrected visual acuity was 20/100 in the right eye. Fundoscopy showed retinal neovascularization (RNV) with macular traction and a small superotemporal hemangioblastoma. Spectral-domain optical coherence tomography confirmed increased macular thickness and macular traction secondary to RNV. Bevacizumab was injected intravitreally, resulting in partial regression of RNV. Five days after the injection, the patient underwent complete removal of fibrovascular proliferation via pars plana vitrectomy, followed by peripheral tumor photocoagulation. The specimen was subjected to histopathological and immunohistochemical analyses. At 2 years of follow-up, vision had improved to 20/30, and anatomical improvement was confirmed on both fundoscopy and spectral-domain optical coherence tomography. CONCLUSION: Ocular von Hippel-Lindau disease may be associated with RNV and macular traction. In such cases, RNV is likely responsive to anti-vascular endothelial growth factor and may be removed surgically along a cleavage plane between the tissue proliferation and the inner retina. In the reported case, the procedure was found to be safe and associated with macular anatomical improvement and vision recovery.

JUXTAPAPILLARY CAPILLARY RETINAL ANGIOMA AND EPIRETINAL MEMBRANE MANAGEMENT IN A MONOCULAR PATIENT WITH VON HIPPEL-LINDAU SYNDROME.

PURPOSE: To report a case of von Hippel-Lindau syndrome in a monocular patient with progressive vision loss due to a juxtapapillary capillary retinal angioma and an epiretinal membrane (ERM) formation. PATIENT: We describe a 37-year-old white male patient with von Hippel-Lindau syndrome who presented for retinal evaluation. The right eye was blind with no light perception vision. The left eye had a best-corrected visual acuity of 20/30 and exhibited a peripheral capillary hemangioblastoma at 12 o'clock and a juxtapapillary capillary hemangioma with an ERM covering the fovea. The patient underwent two sessions of fluorescein-potentiated argon laser treatment to the peripheral capillary hemangioblastoma with initial stabilization of vision. After 18 months of follow-up, the ERM contracted causing decline in vision to 20/50. Intravitreal injection of bevacizumab was given without improvement in vision or distortion. Twenty-five-gauge pars plana vitrectomy with ERM peeling and internal limiting membrane removal was performed with immediate improvement in vision and distortion. CONCLUSION: This case suggests that pars plana vitrectomy is a reasonable treatment option for vision loss due to a juxtapapillary capillary retinal angioma and ERM formation.

Laparoscopic adrenal-sparing approach for children with bilateral pheochromocytoma in Von Hippel-Lindau disease.

INTRODUCTION: Von Hippel-Lindau disease (VHL) is a rare cause of hereditary bilateral Pheochromocytomas (PHEO). Traditionally, treatment has been total adrenalectomy due to a lifetime risk of developing new tumors. Limited data exists on the surgical management of bilateral PHEO in children with VHL. We reviewed our experience with laparoscopic partial adrenalectomy for bilateral PHEO. METHODS: A retrospective review was performed of patients undergoing adrenalectomy for PHEO in children with VHL from 2004 to 2019. RESULTS: Eight children with VHL diagnosed with bilateral PHEO underwent 16 adrenalectomies (10 synchronous, 5 metachronous, 1 for recurrence). Median age at diagnosis was 13 [range 8-17] years with a median tumor size of 2.3 [range 0.5-7.7] cm. Of 16 adrenalectomies, all were performed laparoscopically, 14 were partial adrenalectomies; 2 patients required a contralateral total adrenalectomy due to size and diffuse multinodularity. There were no postoperative complications. No patients required corticosteroid replacement at the end of the study period. Two patients had new ipsilateral tumors identified after a median follow up of 5 [range 4-6] years with one undergoing repeat partial adrenalectomy. There were no mortalities in the study period. CONCLUSION: Partial adrenalectomy for bilateral PHEO in patients with VHL is safe and does not compromise outcomes. When technically feasible, laparoscopic partial adrenalectomy should be considered as a primary surgical approach for children with VHL. LEVEL OF EVIDENCE: Level IV - Case series with no comparison group.

Resection of a Medulla Oblongata Hemangioblastoma: 2-Dimensional Operative Video.

Hemangioblastomas are benign vascular tumors that can be sporadic or multiple, as part of Von Hippel-Lindau disease. They develop at any level of the central nervous system, with a predilection for the dorsal medulla among brainstem locations. Radical resection of the solid portion of the tumor is the best treatment option.1,2 The resection should be en bloc to avoid uncontrollable intraoperative hemorrhage hindering safe dissection. Preservation of the venous drainage during the progressive dissection of the tumor of the surrounding structures and interruption of numerous small arterial feeders is a tenet for safe surgical resection.3 Once the tumor is completely disconnected, the large draining veins can be coagulated, and the tumor removed. We demonstrate these technical principles in the surgery of a 30-yr-old female with an exophytic hemangioblastoma from the dorsal medulla obstructing the fourth ventricle outflow. We demonstrate the resection of this lesion through a suboccipital craniotomy in a sitting position.4 The patient consented to the surgery and publication of images. Image at 1:26 from Kadri and Al-Mefty,4 by permission from the Congress of Neurological Surgeons.