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)

We reported a rare case of supratentorial primitive neuroectodermal tumors (sPNET) and reviewed the literature. A 15-year-old girl presented with a one-month history of headache and vomiting. CT scans showed a huge, solid and cystic tumor with calcification, occupying the left anterior cranial fossa. The solid portion of the tumor was hypointense on T1-weighted images, slightly hyperintense on T2-weighted images, hyperintense on diffusion- weighted images, isointense on fluid-attenuated inversion recovery (FLAIR) images, and strongly enhanced after administration of contrast medium. The expansile tumor had a broad attachment to the dura matter of the anterior cranial fossa. The patient underwent an uneventful extirpation of the tumor. Microscopically, the solid tumor contained small, round poorly-differentiated cells with pleomorphic nuclei and brisk mitotic activity. The tumor cells were immunoreactive for synaptophysin and GFAP, whereas lack of MIC2 gene product expression was confirmed using the monoclonal antibody 12E7. The MIB-1-positive rate was 43%. The histological diagnosis was sPNET. Postoperatively, a dose of 30.6Gy was administrated to the whole brain and a boost of 19.6Gy to the T2-hyperintensity lesion. The patient successively received a dose of 30.4Gy to the whole spine and Linac stereotactic radiotherapy with a marginal dose of 16.8Gy at the tumor bed. Three months after radiotherapy the patient received chemotherapy using carboplatin and etoposide. Follow-up MR images showed no evidence of recurrent tumor 5 months after the radiochemotherapy. On the basis of MR findings on both diffusion-weighted and FLAIR images, preoperative diagnosis of sPNET may be important for choosing appropriate therapeutic strategies for this tumor.
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PMID:[Supratentorial primitive neuroectodermal tumor: report of a surgical case]. 1535 32

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