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Vitreoretinal Surgery in Rare Conditions
Published in Pradeep Venkatesh, Handbook of Vitreoretinal Surgery, 2023
Retinal angiomas are rare tumours [hamartoma] that develop within the vascular bed of the retina. It may be sporadic or a part of the multisystem disorder, von Hippel Lindau [VHL] syndrome. VHL is inherited as an autosomal dominant disease with high penetrance and variable expressivity; the genetic defect being in the VHL gene located on the short arm of chromosome 3. These tumours express brachyury, FlK-1, and Scl, and so are thought to develop from embryologically arrested mesodermal cells programmed to develop into hemangioblasts. Tie-2 and CD31 endothelial markers have also been detected in these tumours. Other than retinal angiomas, VHL is associated with hemangioblastomas of the central nervous system (mainly infratentorial); renal cell carcinoma; pancreatic carcinoma; pheochromocytoma; and adrenal, pancreatic, and epidydimal cysts. Extraocular lesions could develop over a variable time frame, as late as the fifth decade of life, so periodic screening is recommended in all patients diagnosed with retinal angiomas.
Tumors of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Von Hippel–Lindau disease (VHL) is an inherited, autosomal dominant disorder associated with specific tumors in multiple organs including the retina, brain, spinal cord, pancreas, adrenal gland, kidney, epididymis, and endolymphatic sac.
Pediatric Central Nervous System Tumors as Phenotypic Manifestation of Cancer Predisposition Syndromes
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Giorgio Perilongo, Irene Toldo, Stefano Sartori
Hemangioblastomas are World Health Organization (WHO) grade I tumors, and are well-circumscribed, capillary vessel-rich benign neoplasms. The clinical manifestations of these tumors are related to the space-occupying effect of the lesion (Figure 4.13). Hemangioblastoma may be among the phenotypic manifestations of von Hippel–Lindau (VHL) syndrome.68 VHL is an autosomal-dominant disorder affecting one in every 36,000 individuals. VHL should be regarded as a cancer-predisposing syndrome. In fact, patients with VHL disease may develop multiple neoplasia, such as hemangioblastoma of the brain and spine, retinal and renal angioma, clear cell renal carcinoma, pheochromocytoma, endolymphatic sac tumors of the temporal bones, serous cystoadenoma, neuroendocrine tumors of the pancreas, and papillary cystoadenoma of the epididymis and broad ligaments. The likelihood of developing pheochromocytoma and clear cell renal cell carcinoma is used to further classify families affected by VHL disease.69
The safety and efficacy of laparoscopic microwave ablation-assisted partial nephrectomy: a new avenue for the treatment of cystic renal tumors
Published in International Journal of Hyperthermia, 2023
Baoan Hong, Qiang Zhao, Yongpeng Ji, Yong Yang, Ning Zhang
Of the 43 patients who received LMAPN for cystic renal tumors, the median follow-up period was 26 months, and the 1-, 3- and 4-year overall survival rate was 100%, 96.6% and 88.5%, respectively. However, two patients’ deaths were attributed to heart failure and metastatic colon cancer, respectively. Among the 43 samples, no instances of metastatic renal cell carcinoma were observed. Though one patient with VHL syndrome has a local recurrence, the tumor has not yet reached the size threshold for surgery, and active surveillance has been adopted [26]. Hence, the preliminary oncologic outcomes of this study were satisfactory. Carrafiello et al. [22] assessed the efficacy and safety of percutaneous image-guided microwave ablation in six patients with seven Bosniak category III or IV cystic renal lesions after 24 months of follow-up duration. The results showed that the technical success rate was 100%, the local tumor progression rate was 0%, and the overall survival rate was 100%. Zhou et al. [23] reported that five patients with cystic renal cell carcinoma treated with computed tomography-guided microwave ablation, during the mean follow-up period of 18 months, no local recurrence was identified. Thus, microwave ablation could open new prospects as a viable alternative for treatment of cystic renal tumors.
MK-6482 as a potential treatment for von Hippel-Lindau disease-associated clear cell renal cell carcinoma
Published in Expert Opinion on Investigational Drugs, 2021
Von Hippel-Lindau (VHL) disease is an inherited autosomal dominant syndrome caused by a germline mutation and/or deletion of the VHL gene. Affected individuals are at risk of developing tumors and cysts in multiple organs, such as hemangioblastomas of the brain and spinal cord, inner ear endolymphatic sac tumors, retinal angiomas, renal cysts and renal cell carcinomas (RCC), pheochromocytomas, pancreatic cysts and neuroendocrine tumors, and epididymal and broad ligament cystadenomas (Table 1) [1]. Based on the phenotypic heterogeneity of the syndrome, VHL disease is classified into type 1 and type 2 according to the presence and absence of pheochromocytoma. Type 2 disease is further classified to 2A, 2B, and 2 C depending on the presence of RCC and hemangioblastoma (Table 2) [2–5]. Among all VHL disease-associated tumors, RCC has the highest incidence, up to 70%, and is a leading cause of death in VHL patients [6].
Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending Von Hippel-Lindau (VHL) clinics?
Published in Ophthalmic Genetics, 2019
S. Mansfield Smith, R. Makam, L. Sullivan, R. Sandford, L. Allen
VHL disease is a dominantly inherited cancer syndrome with a prevalence of 1 in 36,000 and almost complete penetrance by 65 years of age. The disease is caused by a germline mutation in the VHL gene, located at chromosome 3p25–26. Its clinical manifestations include benign and malignant tumours which develop only from the cells in susceptible target organs, typically of the central nervous system, kidney, pancreas and adrenal gland(1). Histologically, the retinal angioma is a haemangioblastoma, comprised of vascular endothelial channels and lipid laden foam cells which, unlike normal retinal capillaries, are fenestrated resulting in vascular exudation. Retinal angiomatosis is an important diagnostic manifestation of VHL, affecting up to 80% of gene carriers and is the first manifestation in half, with a mean age of 25 years at diagnosis(2,3), The absence of retinal angiomatosis in an individual of 30 years of age or older signifies a low future risk of their development(4).