BACKGROUND Liquid biopsy has gained popularity of late in the diagnosis and management of several cancers. This study aims to diagnose suspected lesions suspected of being gliomas on neuro-imaging by obtaining a peripheral venous blood sample- with a specificity and sensitivity that approaches a tissue biopsy. MATERIALS AND METHODS After clearance from Ethics Committees, specimens of the tumour tissue along with blood from a peripheral or vein was collected from all 80 adult patients with a suspected diagnosis of glioma. Clinical details along with the neurological status, the functional score, the extent of resection, pathological diagnosis and survival data were also collected. The tumour tissue transported in RNA-later and stored at -80C. Following exosome isolation, RNA-seq was performed on the exosomal sample obtained from the serum and the tumour sample. Exome analysis was performed on the tumour tissue (somatic mutations) and the WBC (for germline mutations) to a depth of 100. RESULTS The analysed data was quality checked for all glioma associated genes including but not limited to ATRX, H3F3A, IDH1, MGTM and TERT driver genes related to DNA repair, cytoskeleton and cellular proliferation-related genes EGFR, FLT1/(VEGFR), BRAF, GFAP, MKi67, NES, OLIG2, PIK3CA, SMAD3, S1001A and VIM and tumour suppressor genes SMARCB1/INI1 and TP53. Open-source cloud based genomic analysis platforms were used for analysis. Machine learning clustering algorithms identified serum exosome based clusters that corresponded to already identified glioma tissue based genomic subgroups, with specificity and sensitivity approaching 95%. CONCLUSION Liquid biopsies provide a reliable and effective way of diagnosing gliomas in patients who present with an intracranial lesion on radiology.
Introduction: Endoscopic method is an alternative to shunt placement and open surgery; it creates a communication between cyst, ventricular system and subarachnoid system. Aim: To describe the demographic, clinical profile, operative technique, complications and outcome following endoscopic management of intracranial arachnoid cysts at a tertiary Care Hospital in Southern India. Materials and Methods: A retrospective observational study was conducted in tertiary care hospital in southern India in which case records of all 42 symptomatic patients diagnosed with intracranial arachnoid cyst and who underwent surgical management by endoscopic techniques from 1995 to 2010 were included. Demographics, clinical presentations, type of surgery, complications and clinical outcome were recorded and results were expressed in terms of frequency and percentages. Results: Study included 30 males and 12 females with a mean (SD) age of 14.8 (15.5) years. The most common presenting feature was raised intracranial pressure (27.6%). Cysts were commonly located inposteriorfossa(35.7%)followedbyintraventricularregion(31.0%). All patients (100%) underwent endoscopic fenestration with either cystoventriculostomy or cystocisternostomy. Endoscopic Third Ventriculostomy (ETV) was done in 21.4% of patients associated with hydrocephalus. Postoperative complications (11.9%) included Cerebrospinal Fluid (CSF) leak, subdural hygroma and metabolic complications. Mortality rate was 2.4%. Follow-up period ranged between one month to 99 months (median 24 months). Success rate of the procedure was 95%. Conclusion: Prevalence of intracranial arachnoid cyst is common in males and is often located in the posterior fossa. The endoscopic management of intracranial arachnoid cyst is safe and is associated with superior clinical outcome
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