Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 19-year-old girl had headaches, blurred vision and vomiting for 2 weeks. Neurological examination revealed only bilateral papilloedema and left abducens palsy. Neuroimaging of the brain was normal. Cerebrospinal fluid study showed intracranial hypertension (IH), hypoglycorrhachia, hyperproteinorrhachia, and a negative cytology study. Eight months after the onset, paraparesis occurred. Spinal magnetic resonance imaging showed intramedullary masses at the cervical and thoracic cords with extensive seeding. Biopsy of the mass showed primitive neuroectodermal tumor (PNET). IH rarely occurs in patients with spinal cord neoplasms. Its incidence is low and the condition is always associated with signs of myelopathy. We report a patient whose initial manifestation of spinal PNET was IH only. Spinal tumor should be considered in IH patients whose intracranial examinations are negative.
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PMID:Intracranial hypertension as an initial manifestation of spinal neuroectodermal tumor. 1602 36

The peripheral primitive neuroectodermal tumor/Ewing's sarcoma family tumor (pPNET/ESFT) group includes small round cell tumors of the bone, soft tissue, and nerve with morphological attributes of the germinal neuroepithelium. Peripheral PNETs/ESFTs also occur within the craniospinal vault, a region including the central nervous system, the meninges, and the cranial and spinal nerve roots. Gene rearrangements between the EWS gene on chromosome 22q12 and members of the ETS gene family are common in and specific to pPNETs/ESFTs. Another defining characteristic of pPNETs/ESFTs is their membranous expression of the MIC2 gene product. We describe 2 cases of pPNETs within the craniospinal vault. An intradural tumor arising from the nerve roots of the cauda equina was discovered in a 32-year-old man presenting with radiculopathic back pain and lower-extremity weakness. An intracranial pPNET that mimicked a meningioma was found in a 21-year-old man presenting with headache and visual disturbances. MIC2 gene product expression and EWS/ETS gene rearrangement were detected in both case patients. The literature with regard to pPNETs/ESFTs arising within the craniospinal vault is reviewed.
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PMID:Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review. 1678 84

Medulloblastoma is a primitive neuroectodermal tumor arising in the posterior fossa usually in the first decade of life. Systemic metastases are infrequent at diagnosis and usually occur after surgical resection or shunt placement. We report a rare case of medulloblastoma in an 18-year-old woman who presented with headache, leukopenia, and anemia. Neurologic examination was normal. Bone marrow evaluation revealed primitive cells morphologically resembling blasts. By flow cytometry, these cells lacked CD45 and expressed CD13/33, CD15, CD34, HLA-DR, and strong CD56. The presence of myeloid antigens and CD34 suggested acute myeloid leukemia; however, the bone marrow core biopsy architecture and tumor cells in cerebrospinal fluid were more compatible with a nonhematopoietic tumor. Further workup revealed a cerebellar mass, and a diagnosis of desmoplastic medulloblastoma was made. To our knowledge, this is the first reported case of a nonhematopoietic small round blue-cell tumor expressing multiple myeloid antigens and CD34 by flow cytometry.
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PMID:Medulloblastoma simulating acute myeloid leukemia: case report with a review of "myeloid antigen" expression in nonhematopoietic tissues and tumors. 1748 18

The case of an 18-year-old primipara in the second trimester of pregnancy affected by a primitive supratentorial mass is described. Main symptoms of increased intracranial pressure were severe headache, diplopia, and left hemiparesis. In the 20(th) week of pregnancy a fronto-temporal craniotomy was performed with complete excision of the tumor. Immunohistochemical analysis showed a primitive neuroectodermal tumor (PNET). Three months after being discharged, the patient still presented headache and apathy, and a magnetic resonance imaging scan again showed the presence of a temporal lesion; therefore, after caesarean delivery the second surgical resection of the tumor was performed. Combined chemotherapy and radiotherapy was required.
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PMID:Supratentorial primitive neuroectodermal tumor during pregnancy. Case report. 1750 62

Primary central nervous system atypical teratoid/rhabdoid tumors mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor, medulloblastoma and choroid plexus carcinoma, but present different biological behaviors. We present the case of an 18 year-old man who presented headache, vomiting and ataxia. CT-scan and MRI revealed a posterior fossa tumor. A gross total resection was performed. An intraoperative study showed papillary-like tumors with large cells and mitotic features. Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells with papillary features and rhabdoid cells. Immunohistochemically, these rhabdoid cells were positive for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, S-100 protein, and glial fibrillary acidic protein. Electro-microscopically, the typical rhabdoid cells contained whorled bundles of intermediate filaments in their cytoplasm. A rhabdoid tumor is a clinical-pathological entity and emphasizes the necessity to distinguish this unique tumor from other pediatric central nervous system neoplasms. Cytopathological features, immunohistochemistry and electro-microscopy differential diagnoses are discussed.
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PMID:Rhabdoid choroid plexus carcinoma: a rare histological type. 1787 20

A 15-year-old man presented with headache. Magnetic resonance (MR) imaging revealed a large extraaxial tumor with cyst at the right frontotemporal region. The solid part of the tumor was homogeneously enhanced on T(1)-weighted MR imaging after injection of gadolinium. Digital subtraction angiography of the external carotid artery revealed sunburst appearance corresponding to the tumor, which was fed by the right middle meningeal artery. His headache worsened and computed tomography revealed enlargement of the tumor and intracystic hemorrhage, so emergent operation was performed. At surgery, the tumor strongly adhered to the dural membrane, and was obviously extraaxial. The tumor and cyst were gross totally removed. The attachment site at the dura mater was resected. Histological examination showed solid growth of small round cells with uniform round nuclei and minimal cytoplasm. Immunohistochemical staining showed the cells were positive for MIC-2 (CD99). The MIB-1 labeling index was 53%. The histological diagnosis was peripheral-type primitive neuroectodermal tumor (pPNET). Following surgery, radiation therapy and chemotherapy were given. Ewing's sarcoma and pPNET form a family of small round cell tumors arising in the bone or soft tissue. MIC-2 is a useful marker in the differential diagnosis. Good prognosis may be attained if complete surgical excision of intracranial pPNET is achieved.
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PMID:Intracranial peripheral-type primitive neuroectodermal tumor. 1829 76

Medulloblastoma is one of the most common malignant childhood brain tumors. It is a primitive neuroectodermal tumor (PNET) and predominantly arises in the cerebellum and 4th ventricle. Most cases of medulloblastoma are sporadic, but some predisposition syndromes are known, such as SUFU and Gorlin syndromes. Most often intracranial hypertension reveals the disease typically with headache and vomiting. However, the frequent atypical presentation should not delay neuroradiological investigations. Brain and spinal MRI can establish the diagnosis of posterior fossa tumor and define the extent of the disease. CSF study completes the staging. Histologic examination of the tumor confirms the diagnosis of medulloblastoma. Patients are classified into 2 risk groups: standard-risk medulloblastoma, defined by nonmetastatic disease treated by total or subtotal tumor resection; and high-risk patients who have disseminated disease and/or residual disease. Tumor molecular genetic findings allow the use of emerging prognostic factors and may ultimately contribute to the development of targeted therapy. Current treatment in the oldest children combines surgical resection followed by radiotherapy and chemotherapy. The aim of recent studies was to increase survival and decrease sequelae by reducing CSI in older children with standard risk medulloblastoma. Treatment in younger patients is as much as possible restricted to surgery and chemotherapy. However, long-term sequelae after treatment for medulloblastoma remain frequent and the detection and treatment of those sequelae is an essential part of the follow-up of the patients.
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PMID:[Childhood medulloblastoma]. 1899 98

Cases of cerebral neuroblastoma or supratentorial primitive neuroectodermal tumor with malignant gliomatous components are relatively uncommon. Less frequent is the combination of these 2 elements with a mesenchymal component. This is a case report of a lipomatous supratentorial primitive neuroectodermal tumor with glioblastomatous differentiation occurring in a 48-year-old woman. She presented with headaches and confusion. A right parietal lobe mass was excised and subsequently recurred, requiring additional surgery 10 months later. The patient died 13 months after initial surgery. Histologic findings showed a proliferation of small rounded synaptophysin-positive neural cells consistent with neuroblastoma. These cells were arranged against a benign lipomatous background. The second resection consisted primarily of glioblastomatous-like tissue with intermixed lipomatous component. The glioblastoma component was marked by prominent cellularity, moderate nuclear pleomorphism, readily identifiable mitotic activity, vascular proliferative changes, and necrosis. The glioblastomatous component of the tumor demonstrated glial fibrillary acidic protein immunoreactivity. A Ki-67 labeling index of 18.9% was noted in the initial resection. The literature on similar-appearing lesions is reviewed.
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PMID:Lipomatous supratentorial primitive neuroectodermal tumor with glioblastomatous differentiation. 1911 80

Medulloblastomas were originally classified under gliomas of the cerebellum until Bailey and Cushing in 1925 named these tumors as medulloblastoma. At present these tumors are classified under primitive neuroectodermal tumor. Surgical excision followed by craniospinal irradiation is the treatment of choice. A 13-year-old-girl operated for posterior fossa medulloblastoma 5 years ago presented with history of headache and vomiting on and off for 4 days in late August 2008. The MRI showed left frontal tumor which on excision was reported as medulloblastoma. Even after optimal treatment reports of recurrence abound in literature. The most common location is in the posterior fossa, followed by spinal, supratentorial, and uncommonly, systemic metastases. We conclude that medulloblastomas are highly aggressive tumor with high local recurrences if the initial excision is incomplete and that recurrence in the supratentorial area although uncommon is still a possibility. This mandates regular follow up of these children till adulthood to catch early recurrences and metastatic disease.
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PMID:Frontal recurrence of medulloblastoma five years after excision and craniospinal irradiation. 1967 68

We report a boy who in 1994, at the age of 11, presented with headache and vomiting. The fi nal diagnosis was papillary tumor of the pineal region (PTPR). Magnetic resonance imaging (MRI) revealed a heterogeneous mass. Hydrocephalus was addressed by immediate ventricle drainage; subsequently, we attempted tumor removal. As the intraoperative diagnosis of the hemorrhagic tumor was primitive neuroectodermal tumor (PNET), we did not proceed to total removal. After the delivery of radiotherapy (50.4 Gy) and one course of Nimustine hydrochloride (ACNU) chemotherapy, the residual tumor was completely resected. The diagnosis at that time (1994) was papillary pineocytoma. He was followed on an outpatient basis for 15 years and remained free of recurrence. This type of tumor was later proposed to represent a new distinct tumor subtype, papillary tumor of the pineal region (PTPR). Our data indicate that our patient's tumor should be included in this category.
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PMID:Successful treatment of neoadjuvant therapy for papillary tumor of the pineal region. 1985 18


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