Von Hippel-Lindau syndrome (VHL) is a rare genetic disease. Its incidence is 1 : 36,000, there is the familial occurrence in 80 % of cases , the remaining cases are de novo mutations. The disease is caused by the highly penetrant mutations in the VHL gene (3p25.3) and is characterized by the occurrence of benign and malignant neoplasms. The most common VHL tumors are the tumors of the retina, brain and spinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, endolymfatic sac tumors and pancreatic tumors and cysts. The mean age of the VHL patients during the diagnosis is 20-40 years. The diagnosis can be confirmed by a positive family history and the presence of one of the typical tumor. In case of no family history, the diagnosis has to be assessed by the presence of the multiple tumors. The clinical signs and prognosis of VHL depend on the location and extent of the tumors. The life expectancy is 50 years. The most common causes of death are complications of the renal cancer and the brain tumors. The treatment requires a multidisciplinary collaboration through the whole life of patients. This 2 cases report we demonstrate the differences among the patients with de novo mutations disease and the patient with familial incidence.Key words: pheochromocytoma - renal cell carcinoma - von Hippel-Lindau syndrome.

• MeSH
• dospělí MeSH
• genetická predispozice k nemoci * MeSH
• karcinom z renálních buněk MeSH
• lidé MeSH
• mutace MeSH
• nádorový supresorový protein VHL * MeSH
• nádory ledvin MeSH
• prognóza MeSH
• von Hippelova-Lindauova nemoc diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• nádorový supresorový protein VHL * MeSH

• MeSH
• lidé MeSH
• von Hippelova-Lindauova nemoc diagnóza   genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

The available diagnostic and therapeutic possibilities allow to treat successfully all manifestations of von Hippel-Lindau disease. Adenocarcinomas of the kidneys, however, still present a serious therapeutic problem due to their mostly bilateral and multifocal occurrence. Evidence that patients after bilateral nephrectomy with subsequent dialysis or transplantation would have a longer survival time than patients whose kidneys had not been removed has not been provided as yet. Partial resection or enucleation of tumors may postpone the development of metastases but does not prevent tumor formation in the remaining parts of the kidneys. Considering the late appearance of metastases, though evidence only in one of our patients, we preferred not to remove the kidney and to introduce dialysis. The availability of sonography has put the kidney into the focus od attention in this disease. Not only does sonography allow to monitor regularly members of the affected families but also to screen for the disease at routine sonographic examination of the abdomen. (Fig. 7, Ref. 15.)

• MeSH
• lidé MeSH
• rodokmen MeSH
• von Hippelova-Lindauova nemoc * diagnóza   genetika   chirurgie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

The authors present a case of a 37 year old male (proband) with a 13 year history of progressive sight impairment leading to blindness and a 4 year history of a mild hypertension. He was incidentally found to have large adrenal tumors after an ultrasound kidney examination. The tumors were confirmed with CT scan and magnetic resonance imaging. A bilateral pheochromocytoma was biochemically demonstrated and successfully removed. The eye diagnosis of angiomatosis retinae von Hippel-Lindau was ascertained after a search of the patient files in other medical departments, which led to a family screening. Proband's brother, having hypertension and a history of a cerebellar astrocytoma operation, was also diagnosed with CT scan to have a bilateral pheochromocytoma. Unfortunately, at the same time he was found to have a large irremovable neuroendocrine pancreatic carcinoma, which caused complications and his eventual death. Both proband and his brother were affected by the same CGG(Arg167)->CAG(Gln) mutation in the exon 3 of the VHL gene. Other living and examined family members were not affected, which was confirmed by negative genetic testing. One year after the pheochromocytoma operation, proband was diagnosed to have a retroperitoneal tumor left to the aorta, clinically silent, with slightly and non-constantly elevated urine norepinephrine and normetanephrine. Metaiodobenzylguanidine scintigraphy showed that it was a paraganglioma. The old CT and magnetic resonance picture review demonstrated that the tumor had already been present at the time of the operation. It was surgically removed and histologically verified. It is a pity that proband had not been sent by his ophthalmologist for an endocrine examination when the eye diagnosis was determined. Affection of the family would have been discovered earlier, and proband's brother might have possibly been saved.

• MeSH
• dospělí MeSH
• feochromocytom komplikace   genetika   MeSH
• lidé MeSH
• nádory nadledvin komplikace   genetika   MeSH
• von Hippelova-Lindauova nemoc komplikace   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• angiomatóza genetika   MeSH
• dospělí MeSH
• lidé MeSH
• rodokmen MeSH
• von Hippelova-Lindauova nemoc diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

BACKGROUND: Haemangioblastoma within CNS occurs either as a sporadic tumor or as a syndrome referred to as Morbus Hippel-Lindau (MHL). Since 1993 it has been known that this disease is caused by MHL mutation of the suppressor gene on the chromosome 3p25-p26. The syndrome can include malign tumors of abdominal organs. MATERIAL AND METHODS: We treated 8 patients with CNS haemangioblastoma (5 males and 3 females) during the period of 1998-1999. Two of them were patients with MHL (numerous CNS or retinal haemangioblastomas). All patients were treated by radical extirpation of haemangioblastoma except for one who got ventricular-peritoneal shunt and his tumor was irradiated by linear accelerator. All patients were screened for the presence of abdominal carcinoma. RESULTS: The post-operative course was good in all patients. The screening has not revealed any co-existence of malignant processes. CONCLUSION: The treatment of haemangioblastoma is only a part of the complex therapy of MHL. The occurrence of carcinomas (especially those of the kidneys) is highly probable, and the mortality of patients with this affliction exceeds that associated with haemangioblastoma owing to its treatment by improved neurosurgical techniques. The patients must be permanently observed in order to reveal the carcinoma as soon as possible, as well as for its potential recurrence or de novo growth of haenangioblastomas. (Tab. 1, Fig. 2, Ref. 17.)

• MeSH
• dospělí MeSH
• hemangioblastom komplikace   diagnóza   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory centrálního nervového systému komplikace   diagnóza   chirurgie   MeSH
• senioři MeSH
• von Hippelova-Lindauova nemoc komplikace   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

We report the case of a 42-year - old female with familiar form von Hippel-Lindau disease (VHL) and recurrent endolymphatic sac tumour (ELST), which was presented like non-homogenous, solid and cystic expansion of the left petrous temporal bone. Histologically, there was found lamellae of bone with adjacent ligament and with papillary projections with fibrovascular core. The papillae were lined by a single layer of cuboidal epithelium with hyperchromatic and lightly pleomorphic nuclei. Sporadically, small cystic formations with eosinophilic, PAS positive secretion were noted. Imunohistochemically, the cuboidal cells showed diffuse positivity for vimentin, epithelial membrane antigen (EMA), cytokeratin AE1/AE3 and S100 protein (weakly). Other markers examined, including TTF1, PAX8 and CD10, were negative. Endolymphatic sac tumour is rare low-grade malignant epithelial tumour arising from the endolymphatic sac in the temporal bone, which occurs in 1 out of 30 000 births, with just fewer than 300 cases reported in the literature. About one third of cases are associated with von Hippel- Lindau disease, an autosomal dominant familial cancer syndrome.

• Klíčová slova
• endolymphatic sac tumour, temporal bone, von Hippel-Lindau disease,
• MeSH
• adenom * patologie   MeSH
• dědičné nádorové syndromy * komplikace   patologie   MeSH
• lidé MeSH
• nádory kostí * komplikace   MeSH
• nádory ucha * komplikace   patologie   MeSH
• saccus endolymphaticus * patologie   MeSH
• von Hippelova-Lindauova nemoc * komplikace   patologie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Extraneuraxial hemangioblastoma occurs in nervous paraneuraxial structures, somatic tissues, and visceral organs, as part of von Hippel-Lindau disease (VHLD) or in sporadic cases. The VHL gene plausibly plays a key role in the initiation and tumorigenesis of both central nervous system and extraneuraxial hemangioblastoma, therefore, the underlying molecular and genetic mechanisms of the tumor growth are initially reviewed. The clinical criteria for the diagnosis of VHLD are summarized, with emphasis on the distinction of sporadic hemangioblastoma from the form fruste of VHLD (eg, hemangioblastoma-only VHLD). The world literature on the topic of extraneuraxial hemangioblastomas has been comprehensively reviewed with ∼200 cases reported to date: up to 140 paraneuraxial, mostly of proximal spinal nerve roots, and 65 peripheral, 15 of soft tissue, 6 peripheral nerve, 5 bone, and 39 of internal viscera, including 26 renal and 13 nonrenal. A handful of possible yet uncertain cases from older literature are not included in this review. The clinicopathologic features of extraneuraxial hemangioblastoma are selectively presented by anatomic site of origin, and the differential diagnosis is emphasized in these subsets. Reference is made also to 10 of the authors' personal cases of extraneuraxial hemangioblastomas, which include 4 paraneuraxial and 6 peripheral (2 soft tissue hemangioblastoma and 4 renal).

• MeSH
• hemangioblastom diagnóza   patologie   MeSH
• lidé MeSH
• von Hippelova-Lindauova nemoc komplikace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

• MeSH
• angiomatóza diagnóza   MeSH
• dospělí MeSH
• elektrokoagulace MeSH
• fotokoagulace MeSH
• lidé středního věku MeSH
• lidé MeSH
• retinální cévy MeSH
• von Hippelova-Lindauova nemoc diagnóza   terapie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Hemangioblastomas (HBs) are rare, benign central nervous system (CNS) neoplasms that rarely occur in the supratentorial. Resection with the goal of gross total resection (GTR) is often considered the primary treatment. Stereotactic radiosurgery (SRS) has been utilized more commonly in unresectable or partially resected cases. In this study, we aimed to evaluate SRS's effectiveness and clinical outcomes in supratentorial HBs. METHODS: A retrospective analysis of multi-centers from 1993 to 2022 was conducted on patients with supratentorial HB treated with SRS. RESULTS: The study included 13 patients with 30 supratentorial HBs (24 von Hippel-Lindau (VHL), 6 sporadic). Median age was 26 years. Most tumors were solid (86.2 %). SRS was primary treatment in 86.7 % of cases and adjuvant in 13.3 %. VHL lesions were significantly smaller than sporadic ones (0.2 vs. 3.7 cc, p = 0.009). Median margin dose was higher in VHL cases (17 vs. 13.0 Gy, P = 0.031). For VHL cases, local control (LC) was 100 % at 6 months, 96 % (95 % CI: 88 %, 100 %) from 12 to 60 months post-SRS. For sporadic cases, LC was 100 % at 6 months, 80 % (95 % CI: 52 %, 100 %) from 12 to 60 months post-SRS (p = 0.39). No adverse radiation events or mortality occurred. CONCLUSION: SRS demonstrated a promising role in the clinical course of supratentorial HBs. It can be considered an effective alternative to surgical resection and even a first-line therapeutic option in appropriately selected cases.

• Klíčová slova
• Hemangioblastoma, Stereotactic radiosurgery, Supratentorial,
• MeSH
• dítě MeSH
• dospělí MeSH
• hemangioblastom * chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• radiochirurgie * metody   MeSH
• retrospektivní studie MeSH
• supratentoriální nádory * chirurgie   MeSH
• von Hippelova-Lindauova nemoc * komplikace   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• srovnávací studie MeSH