Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since its introduction in the neurosurgical field, neuroendoscopy has played an important role in the treatment of pineal germ cell tumors. The authors report a case of pineal germinoma revealing spontaneous regression before neuroendoscopic surgery. A 15-year-old boy presented with chronic headache, deterioration of his visual acuity, and diplopia. Head magnetic resonance imaging (MRI) revealed a large tumor in the pineal region and triventricular hydrocephalus due to occlusion of the aqueduct. As levels of tumor markers in serum and cerebrospinal fluid, including those of alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin (hCG), and the beta-subunit of hCG, were all within the normal ranges, endoscopic surgery for biopsy and third ventriculocisternostomy was performed. Under endoscopic view, the tumor was revealed to be smaller than expected from preoperative images. MRI obtained 14 days after admission disclosed marked shrinkage of the tumor. The histopathological diagnosis was pure germinoma, and the patient underwent chemotherapy combined with fractionated radiotherapy. The tumor disappeared, and the patient did not show any signs of relapse. Spontaneous regression is a very rare phenomenon in malignant brain tumors, and in the literature it has been uncommonly described in pineal germ cell tumors. Our case disclosed a pitfall of modern strategy for this pathology with neuroendoscopy. Dilated ventricles and a certain amount of lesion are factors for safe endoscopic biopsy of pineal tumors. Radiographic images shortly before surgery are warranted, especially in patients whose symptoms of intracranial hypertension have already improved before surgery.
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PMID:Spontaneous regression of germinoma in the pineal region before endoscopic surgery: a pitfall of modern strategy for pineal germ cell tumors. 2094 6

Few previous studies of patients with non-small cell lung cancer (NSCLC) and leptomeningeal metastases have used liquid biopsy of cerebrospinal fluid (CSF) to identify epidermal growth factor receptor (EGFR) mutations and guide therapy. A 34-year-old male patient with NSCLC and leptomeningeal metastases was admitted to the Interventional Radiology Department, Tianjin Huanhu Hospital on 18th April 2018 after showing no response to chemoradiotherapy. On admission, the patient was in critical condition with an estimated survival <1 month. A ventriculoperitoneal shunt was placed in the right lateral ventricle. The CSF level of carcinoembryonic antigen (CEA) was 9,869 ng/mL. Next-generation sequencing (NGS) of the CSF revealed an EGFR G719A mutation (frequency: 55.63%), whereas sequencing of circulating tumor DNA or cells in the peripheral blood identified no clinically significant mutations. Afatinib therapy was initiated based on the NGS results. During follow-up, the patient's symptoms improved, ventricular dilatation lessened, and pulmonary lesions decreased in size. At the last follow-up (7 months), the patient continued to show a good response to afatinib therapy with minimal adverse effects. This is the first clinical study to report the use of simultaneous genetic testing of CSF and peripheral blood to guide the successful implementation of afatinib therapy in a patient with NSCLC and leptomeningeal metastases. Notably, NGS of CSF was superior to genetic testing of peripheral blood at identifying an uncommon EGFR mutation (G719A) in a patient with NSCLC and leptomeningeal metastases.
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PMID:Afatinib for Advanced Non-small Cell Lung Cancer in a Case With an Uncommon Epidermal Growth Factor Receptor Mutation (G719A) Identified in the Cerebrospinal Fluid. 3164 49