Cases reported "Cerebellar Neoplasms"

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1/231. HPV in situ hybridization with catalyzed signal amplification and polymerase chain reaction in establishing cerebellar metastasis of a cervical carcinoma.

    We report an unusual case of cerebellar metastasis from a cervical adenosquamous carcinoma in which molecular techniques assisted in establishing the correct diagnosis. The patient was a 43-year-old woman with surgically unresectable cervical carcinoma diagnosed 2 years before presenting with neurological symptoms. A magnetic resonance imaging scan showed a large, enhancing cerebellar lesion with significant brain stem compression. The excised cerebellar tumor resembled a small cell carcinoma and was initially not thought to be a metastasis from the cervical adenosquamous carcinoma. in situ hybridization with catalyzed signal amplification and polymerase chain reactions with primers specific for human papilloma virus (HPV) types 16 and 18 were used to determine the relationship between the cervical and the cerebellar neoplasms. A positive signal was present in the nuclei of both neoplasms by in situ hybridization using HPV16/18 dna probes. polymerase chain reaction revealed the presence of HPV-18 DNA sequences in the cervical and cerebellar neoplasms confirming that the cerebellar neoplasm was a metastasis from the cervical primary.
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ranking = 1
keywords = neoplasm
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2/231. Recurrent intracranial Masson's vegetant intravascular hemangioendothelioma. Case report and review of the literature.

    In the central nervous system, recurrence of intracranial Masson's vegetant intravascular hemangioendothelioma (MVIH) is rare. To the authors' knowledge, only three recurrent intracranial cases have been reported. The authors report the case of a 75-year-old woman with a recurrent left-sided cerebellopontine angle and middle cranial fossa MVIH. When the patient was 62 years of age, she underwent preoperative embolization and subtotal resection of the intracranial lesion followed by postoperative radiotherapy. She was well and free from disease until 9 years postoperatively when she became symptomatic. At 71 years of age, the patient again underwent preoperative embolization and near-gross-total resection of the lesion. Follow-up imaging performed 15 months later revealed tumor recurrence, and she underwent stereotactic gamma knife radiosurgery. At a 2.75-year follow-up review, the patient's imaging studies revealed stable residual tumor. This case report is unique in that it documents the clinical and pathological features, surgical and postoperative treatment, and long-term follow-up review of a patient with recurrent intracranial MVIH and suggests that this unusual vascular lesion is a slow-growing benign tumor rather than a reactive process. Because the pathological composition of the lesion may resemble an angiosarcoma, understanding this benign vascular neoplasm is crucial so that an erroneous diagnosis of malignancy is not made and unnecessary adjuvant therapy is not given.
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ranking = 0.25
keywords = neoplasm
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3/231. Secondary supratentorial anaplastic astrocytoma following treatment of medulloblastoma.

    The development of secondary tumours is a rare but well known late effect of radiation therapy of lesions in the central nervous system. Most radiation-induced tumours are of mesenchymal origin, but on rare occasions gliomas can occur. We describe a patient in whom a supratentorial anaplastic astrocytoma developed 15 years after surgery and radiotherapy for a childhood posterior fossa medulloblastoma. A concise review of the pertinent literature is given.
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ranking = 6.6660874227404
keywords = radiation-induced
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4/231. Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a li-fraumeni syndrome family.

    li-fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in li-fraumeni syndrome. On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. In a Turkish family with the diagnosis of li-fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. P16INK4A codon 94 mutation observed in our family is a novel mutation in li-fraumeni syndrome. No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family.
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ranking = 0.011469641389627
keywords = cancer
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5/231. Cerebellar pleomorphic xanthoastrocytoma in an infant.

    Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor and typically occurs in the superficial cerebral hemispheres of young subjects. We report a case of PXA in the cerebellum of a 3-month-old infant in view of its unusual location and age. The patient presented with a 1-month history of upward eyeball gazing difficulty. To the authors' knowledge, this is the first report of occurrence of this neoplasm in the cerebellum of an infant. We report the morphologic and immunophenotypical features, and literature review with regard to the clinicopathologic aspects of a case of unusual PXA.
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ranking = 0.25
keywords = neoplasm
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6/231. Muscle bow traction method for dynamic facial reanimation.

    A muscle bow traction method was developed for dynamic facial reanimation utilizing the masseter muscle and a fascial sling. The principle of this method is that the sling around the muscle pulls the oral commissure laterally and backward by the restoring force of the muscle from its relaxed position to its contracted position. The surgical procedure is simple. The sling is passed around the anterior half of the muscle so that the muscle can be bowed anteriorly at its center by the sling. One end of the sling is sutured to the center of the orbicularis oris and the dermis in front of the nasolabial fold, and the other end is sutured to the lower lip and oral commissure. This method was applied to 3 patients with facial palsy and to 1 patient with oral cancer. The restored motion of the oral commissure ranged from 5 to 8 mm when clenching the jaws. The concept of this method differs from those of other muscle transposition methods for facial reanimation in that the force acts at a right angle to the muscle contraction. The advantage of this method is that it is less invasive to the muscle and is a simpler procedure than other conventional muscle transposition methods.
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ranking = 0.0038232137965424
keywords = cancer
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7/231. hypnosis instead of general anaesthesia in paediatric radiotherapy: report of three cases.

    PURPOSE: This report proposes hypnosis as a valid alternative to general anaesthesia for immobilisation and set-up in certain cases in paediatric radiotherapy. methods: We report three cases of children who underwent radiotherapy in 1994 and were treated using hypnosis for set-up during irradiation. The first and the second were two cases of macroscopic resection of cerebellar medulloblastoma in which craniospinal irradiation was necessary, while the third patient suffered of an endorbitary relapse of retinoblastoma previously treated with bilateral enucleation, radiotherapy and chemotherapy; in this last situation the child needed radiation as palliative therapy. hypnosis was used during treatment to obtain the indispensable immobility. Hypnotic conditioning was obtained by our expert psychotherapist while the induction during every single treatment was made by the clinician, whose voice was presented to the children during the conditioning. RESULTS: Every single fraction of the radiation therapy was delivered in hypnosis and without the need for narcosis. CONCLUSIONS: hypnosis may be useful in particular situations to prepare paediatric cancer patients during irradiation, when lack of child collaboration might necessitate the use of general anaesthesia and when anaesthesia itself is not possible.
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ranking = 0.0038232137965424
keywords = cancer
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8/231. 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.
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ranking = 0.25382321379654
keywords = neoplasm, cancer
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9/231. Somatic mosaicism in von hippel-lindau disease.

    von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.
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ranking = 0.0076464275930849
keywords = cancer
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10/231. Relapse of acute myelogenous leukemia as a cerebellar myeloblastoma showing megakaryoblastic differentiation.

    Myeloblastomas (granulocytic sarcomas) occurring within the central nervous system (CNS) are extremely rare lesions that may develop in patients with acute or chronic myeloproliferative disorders. The majority of such lesions involve brain or spinal cord by contiguous spread from meningeal or bony sites, rather than originating within the CNS parenchyma. We describe a patient with acute myelogenous leukemia in remission, who developed a purely intraparenchymal cerebellar myeloblastoma with megakaryocytic differentiation. The neoplastic cells expressed the megakaryocytic markers factor viii-related antigen and platelet glycoprotein-IIIa (CD61), and showed ultrastructural features that were indicative of megakaryocytic differentiation. Clinically, myeloblastomas of the CNS invoke a broad differential diagnosis that includes abscess, hemorrhage, and metastatic neoplasms because of their intraparenchymal location and radiologic features. Although they are rare, myeloblastomas should be included in the histopathologic differential diagnosis of a poorly differentiated neoplasm occurring within the CNS, particularly in a patient with a history of myeloproliferative or myelodysplastic disease.
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ranking = 0.5
keywords = neoplasm
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