1/25. The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von hippel-lindau disease.von hippel-lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von hippel-lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdansk.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/25. Retroperitoneal peripheral hemangioblastoma: a case report and review of the literature.central nervous system hemangioblastomas are uncommon tumors of controversial etiology that are usually found in the posterior fossa of the cranial cavity, retina, and spinal cord. Peripheral involvement is rare; only isolated case reports have been identified. We report an unusual case of hemangioblastoma involving the retroperitoneum. A 47-year-old African-American man presented with polycythemia on routine laboratory testing. Computed tomography revealed a large retroperitoneal mass near the pancreas, in a left suprarenal location, without adrenal involvement and without attachment to a nerve. Although hemangioblastoma may be associated with the von Hippel-Lindau syndrome, this patient did not have any of the stigmata of this disease. The histologic features included a highly vascular tumor with cellular areas composed of plump, pleomorphic spindled and epithelioid (stromal) cells with variable cytoplasmic lipid vacuoles and hypocellular areas with inflammatory cells and collagenous fibrils. Immunohistochemical staining showed that the tumor (stromal) cells were positive for vimentin, calponin, S-100 protein, neuron-specific enolase, and CD57 and negative for glial fibrillary acidic protein, cytokeratins, epithelial membrane antigen, CD34, HMB-45, desmin, and the actins. These morphologic and immunohistochemical findings are consistent with hemangioblastoma. To our knowledge this is the first reported case of a hemangioblastoma in this location. Based on this case we conclude that hemangioblastoma may occur in the retroperitoneum and outside of the central nervous system in a patient without von Hippel-Lindau syndrome. The immunoprofile of this case suggests that hemangioblastomas are mesenchymal neoplasms exhibiting both neural and myofibroblastic differentiation.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
3/25. MKM-guided resection of diffuse brainstem neoplasms.OBJECTIVES: Some primary brainstem tumors, when extensive, are considered inoperable. We wanted to assess the value of robotic image-guided microscopic surgery in the resection of these tumors and to improve survival and quality of life for these patients. methods: Two patients with extensive brainstem tumors were evaluated at our center. They previously underwent several biopsies, attempted partial resections, radiotherapy and shunting. They presented with progressive neurological deterioration, 'coma vigil' for several months, and required life-supporting measures prior to surgery. Both patients underwent frameless stereotactic craniotomy using a MKM robotic microscope, intraoperative neurophysiological monitoring, and extensive resection of their recurrent brainstem tumors. RESULTS: In the immediate weeks after surgery, both patients became interactive and regained major motor and cranial nerve deficits present prior to surgery. Nine months after surgery, 1 patient succumbed to pneumonia. At 2 years after the operation, 1 patient has maintained his neurological status and showed no recurrence on imaging studies. CONCLUSIONS: Image-guided surgery with an MKM microscope allows surgical outlines to be injected in the microscope viewer and facilitates resection of extensive brainstem tumors previously considered inoperable.- - - - - - - - - - ranking = 4keywords = neoplasm (Clic here for more details about this article) |
4/25. Haemangioblastoma of a cervical sensory nerve root in Von Hippel-Lindau syndrome.Spinal haemangioblastomas are rare, accounting for only about 7% of all central nervous system cases. The case of a 40-year-old woman with a haemangioblastoma arising solely from a cervical sensory nerve root is presented. At operation via a cervical laminectomy, it was possible to resect the tumour en masse with the sensory ramus, by extending the laminectomy through the exit foramen for C6. Haemangioblastomas are commonly intramedullary, and have only been reported in this location on one previous occasion. The patient has Von Hippel-Lindau syndrome and a history of multiple solid tumours. The possible role of the Von Hippel-Lindau tumour suppressor gene in the pathogenesis of these neoplasms is discussed.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
5/25. Successful antiangiogenic therapy of giant cell angioblastoma with interferon alfa 2b: report of 2 cases.We describe 2 cases of angioblastoma, a rare, destructive pediatric tumor, treated with interferon alfa 2b (IFNalpha2b). The first patient is a 10-month-old male who presented with an ulcerated palatal neoplasm that could not be completely resected. The second is a male neonate with a congenital tumor of the right hand that invaded the hypothenar eminence, destroying the fourth and fifth metacarpals. biopsy in both patients was interpreted as giant cell angioblastoma. Angioblastoma is rare; there is only 1 reported case that necessitated amputation of an upper extremity, also initially recommended for our patient. Because there is little experience with chemotherapy, permission was granted to employ an antiangiogenic regimen of IFNalpha2b. The angiogenic protein, basic fibroblast growth factor (bFGF), was abnormally elevated in both patients. Both patients received IFNalpha2b. In the first child, it was used after incomplete resection, because biopsy-proven tumor was present at the margin and in the nasopharynx. Biopsies 15 months after initiation of IFN2alphab were negative for tumor. Therapy was stopped after 3 years. Eighteen months later, the patient remains disease-free. In the second child, IFNalpha2b was started after debridement of the ulcerated tumor. Over 11 months, the tumor completely regressed and there was bony regeneration of the metacarpals. The fifth digit was amputated because of damage to the metacarpophalangeal joint by the tumor. IFNalpha2b therapy was discontinued after 1 year of treatment, and the child remains disease-free 2 years and 8 months later. In conclusion, this report demonstrates that: 1) a bFGF-overexpressing low-grade tumor can respond to IFNalpha2b in a manner similar to life-threatening infantile hemangiomas, 2) urinary bFGF levels can help guide IFNalpha dosage in such patients, and 3) although bFGF-mediated tumor angiogenesis is inhibited by IFNalpha, physiologic angiogenesis seems to be unaffected.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
6/25. Excision of large solid haemangioblastomas of the cerebellopontine angle by a skull base approach.Solid haemangioblastomas can be difficult to treat surgically because of their hypervascularity and requirement for circumferential dissection. We report two cases of large solid cerebellopontine angle haemangioblastomas that were safely resected utilizing wide transtemporal posterolateral skull-base exposures. In both cases, good tumour exposure was achieved with trans-cochlear approaches and division of the sigmoid sinus. These were large tumours and we felt that the added complexity of the approach was justified by providing panoramic exposure to allow safe resection.- - - - - - - - - - ranking = 0.033208337630558keywords = complex (Clic here for more details about this article) |
7/25. A case of von hippel-lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism.A rare case of von Hippel-Lindau (VHL) disease with bilateral pheochromocytomas, right renal cell carcinoma, right pelvic carcinoma, spinal hemangioblastoma and primary hyperparathyroidism is described. A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma. von Hippel-Lindau (VHL) gene mutation for the patient was found. We diagnosed the patient as VHL because of the existence of spinal hemangioma and a VHL disease gene. Parathyroid echo revealed a hypoechoic space on the back of the left lobe, and serum calcium and intact PTH to be elevated. The patient was diagnosed as primary hyperparathyroidism. We report the first case of a patient with VHL disease complicated with bilateral pheochromocytomas, right renal cell carcinoma, right renal pelvic carcinoma and primary hyperparathyroidism. The life expectancy of affected individuals has been less than 50 years. Since the prognosis may be improved by an early diagnosis, affected individuals with VHL complexes should undergo cranial, spinal MRI and abdomen CT. The families may benefit from presymptomatic detection of affected gene carriers and the exclusion of at-risk family members by negative test results.- - - - - - - - - - ranking = 0.033208337630558keywords = complex (Clic here for more details about this article) |
8/25. Surgical management of spinal cord hemangioblastomas in patients with von hippel-lindau disease.OBJECT: Von Hippel-Lindau (VHL) disease is an autosomal-dominant disorder frequently associated with hemangioblastomas of the spinal cord. Because of the slow progression, protean nature, and high frequency of multiple spinal hemangioblastomas associated with VHL disease, the surgical management of these lesions is complex. Because prior reports have not identified the factors that predict which patients with spinal cord hemangioblastomas need surgery or what outcomes of this procedure should be expected, the authors have reviewed a series of patients with VHL disease who underwent resection of spinal hemangioblastomas at a single institution to identify features that might guide surgical management of these patients. methods: Forty-four consecutive patients with VHL disease (26 men and 18 women) who underwent 55 operations with resection of 86 spinal cord hemangioblastomas (mean age at surgery 34 years; range 20-58 years) at the National Institutes of health were included in this study (mean clinical follow up 44 months). Patient examination, review of hospital charts, operative findings, and magnetic resonance imaging studies were used to analyze surgical management and its outcome. To evaluate the clinical course, clinical grades were assigned to patients before and after surgery. Preoperative neurological status, tumor size, and tumor location were predictive of postoperative outcome. patients with no or minimal preoperative neurological dysfunction, with lesions smaller than 500 mm3, and with dorsal lesions were more likely to have no or minimal neurological impairment. Syrinx resolution was the result of tumor removal and was not influenced by whether the syrinx cavity was entered. CONCLUSIONS: Spinal cord hemangioblastomas can be safely removed in the majority of patients with VHL disease. Generally in these patients, hemangioblastomas of the spinal cord should be removed when they produce symptoms or signs.- - - - - - - - - - ranking = 0.033208337630558keywords = complex (Clic here for more details about this article) |
9/25. Syllables as units in speech production: Data from aphasia.The syllable has received considerable empirical support as a unit of processing in speech perception, but its status in speech production remains unclear. Some researchers propose that syllables are individually represented and retrieved during phonological encoding (e.g., Dell, 1986; Ferrand, Segui, & Grainger, 1996; MacKay, 1987). We test this hypothesis by examining the influence of syllable frequency on the phonological errors of two aphasics. These individuals both had an impairment in phonological encoding, but appeared to differ in the precise locus of that impairment. They each read aloud and repeated 110 pairs of words matched for syllabic complexity, but differing in final syllable frequency. Lexical frequency was also controlled. Neither aphasic was more error-prone on low than on high frequency syllables (indeed, one showed a near-significant reverse effect), and neither showed a preference for more frequent syllables in their errors. These findings provide no support for the view that syllables are individually represented and accessed during phonological encoding.- - - - - - - - - - ranking = 0.033208337630558keywords = complex (Clic here for more details about this article) |
10/25. Surgical management of lumbosacral nerve root hemangioblastomas in von Hippel-Lindau syndrome.OBJECT: Hemangioblastomas in the lumbosacral region are rare, and the authors of prior reports have not defined the surgical management, histopathological features, or outcome in a group of patients after resection of these tumors. To identify features that will help guide the operative and clinical management of these lesions, the authors reviewed data obtained in a series of patients with von Hippel-Lindau syndrome who underwent resection of lumbosacral nerve root hemangioblastomas. methods: Six consecutive patients (three men and three women; mean age at surgery 39 years [range 31-48 years]) who underwent operations for resection of lumbosacral nerve root hemangioblastomas were included in this study. The mean follow-up period was 23 months (range 6-45 months). Data derived from examination, hospital charts, operative findings, histopathological analysis, and magnetic resonance imaging were used to analyze surgical management and clinical outcome. The resected tumors were located in the lumbar (five cases) or sacral (one case) regions; the mean tumor size was 2728 mm3 (range 80-15,022 mm3). Consistent with central nervous system (CNS) regional variation of space available to accommodate the neural compressive effect of the hemangioblastoma size, the mean tumor volume (2728 mm3) of these symptomatic lesions was much larger than that of symptomatic hemangioblastomas resected in the other regions of the CNS. Histopathological examination showed infiltration of the associated nerve root by the hemangioblastoma in each case. In five of the six patients complete resection was achieved, and in one patient intradural exploration of two hemangioblastomas was performed, but resection was not achieved because of motor root involvement. In all cases involving complete resections the patients experienced symptomatic improvement. CONCLUSIONS: Lumbosacral nerve root hemangioblastomas can be safely removed in most patients with von Hippel-Lindau syndrome. Generally, hemangioblastomas of the lumbosacral nerve roots should be resected when they become symptomatic. Because these neoplasms appear to originate from the nerve root, it is necessary to sacrifice the nerve root from which the hemangioblastoma originates to achieve complete resection.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
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