ABSTRACT
BACKGROUND: Malignant gliomas are the most frequent and lethal brain tumors. Their molecular aspects remain intangible but current studies have pointed to certain genetic polymorphic loci that pose the risk. The polymorphic sequence variations of the epidermal growth factor receptor gene (EGFR) pathway play a vital role in the glioma risk, and the EGFR variants (216G>T and 191C>A) are identified to affect the risk for the development of different tumors including glioma. AIM: To examine genetic variations of EGFR T rs712829 (216G/T) and rs712830 (191C>A) with respect to glioma risk. MATERIALS AND METHODS: 129 confirmed glioma cases were genotyped against 180 malignancy-free healthy controls by polymerase chain reaction-restriction fragment length polymorphism technique (RFLP). RESULTS: The frequency of the TT homozygous variant of the EGFR -216 G/T genotype differed significantly between cases and controls (49.6% vs. 23.0%) (p < 0.0001). The EGFR -216 G>T allele 'T' was found significantly more frequently in cases (0.56 vs. 0.33 in controls; p < 0.0001). The EGFR -191C>A homozygous 'AA' genotype was implicated significantly more frequently in cases than in controls (p < 0.0001). The distribution of the 'A' variant allele was also more frequent in cases (41.9%) than in controls (14.0%) (0.55 vs. 0.30; p < 0.0001). TC and TA haplotypes showed varied frequency in cases and controls. CONCLUSION: EGFR -216 G>T and -191 C>A variants and haplotypes (TA and TC) of the EGFR gene are very strong risk factors in the development of glioma in the Kashmiri population.
Subject(s)
Brain Neoplasms , ErbB Receptors , Glioma , Humans , Brain Neoplasms/genetics , Case-Control Studies , ErbB Receptors/genetics , Genes, erbB-1 , Genetic Predisposition to Disease , Genotype , Glioma/genetics , Polymorphism, Single Nucleotide , Risk FactorsABSTRACT
The article by Sajad ARIF, Arshad PANDITH, Rehana TABASUM, Altaf RAMZAN, Sarabjeet SINGH, Mushtaq SIDDIQI, Abdul BHAT entitled "SIGNIFICANT EFFECT OF ANTI-TYROSINE KINASE INHIBITOR (GEFITINIB) ON OVERALL SURVIVAL OF THE GLIOBLASTOMA (GBM) PATIENTS IN THE BACKDROP OF MUTATIONAL STATUS OF EGFR AND PTEN GENES" was published ahead of print in the Journal of Neurosurgical Sciences on February 13, 2018. As corresponding author of the article, Dr. Sajad ARIF declares that he and his group submitted the same manuscript to two different journals simultaneously (Journal of Neurosurgical Sciences and Asian J Neurosurg), with subsequent redundant publications. The authors confirm their responsibility and ask for the Epub ahead of print publication of their paper in the Journal of Neurosurgical Sciences to be withdrawn. The authors deeply regret this circumstance and apologize for this misconduct to the Journal of Neurosurgical Sciences, to the Asian J Neurosurg, as well as to the readers of the journals. The corresponding author, Sajad ARIF
ABSTRACT
BACKGROUND: Intracranial schwannomas not related to cranial nerves are very rare. Young age, no known history of neurofibromatosis, and seizure as initial symptom have been reported to be associated with intraparenchymal schwannoma. CASE DESCRIPTION: We report a case of supratentorial parasagittal schwannoma in the right frontal region presenting with seizure episode in a 70-year-old man. Computed tomography and magnetic resonance imaging showed a right frontal solid, enhancing extra-axial lesion based on anterior and middle third junction of superior sagittal sinus. The preoperative diagnosis was right parasagittal meningioma, however, the microscopic examination of the mass showed the characteristic pattern of cellular Antony A pattern. Immunohistocemically, the tumor stained positive for S-100 protein but negatively for epithelial membrane antigen and glial fibrillary acidic protein. These findings are consistent with schwannoma. Cysts, calcification, and peritumoral edema are common in intracerebral schwannoma, which were not seen in our case. CONCLUSION: On the basis of clinical presentation and radiological appearances, schwannoma in unusual sites can easily be mistaken for meningiomas; immunochemistry plays an important role in differentiating them. Till date, to the best of our knowledge, this is the second reported case of schwannoma mimicking meningioma in parasagittal location.
ABSTRACT
INTRODUCTION: The hydatid disease most often involves the liver and the lungs. The disease can involve any part of the body except the hair, teeth and nails. Primary extrahepatico-pulmonary hydatid cysts are rare and only a few sporadic cases have been reported. MATERIALS AND METHODS: Two hundred and forty-four patients with hydatid cysts managed surgically from January 2005 to December 2009 were evaluated retrospectively. Fourteen (5.7%) patients had isolated involvement of the atypical sites, while six (2.4%) also had a primary involvement of liver. RESULTS: The cysts were present in gall bladder (0.4%), peritoneum (1.6%), spleen (1.6%), ovary (0.4%), subcutaneous (0.8%), seminal vesicle (0.4%), spinal (0.4%), pancreas (0.4%), kidney (0.4%), mediastinal (0.4%), muscle (0.4%), and brain (0.8%). DISCUSSION AND CONCLUSIONS: Involvement of sites other than liver and lungs by hydatid disease is rare. Symptoms are related to size, location or possible complication of the cyst. It should be strongly suspected in differential diagnosis of all abdominal cysts especially in an endemic area. Proper surgical and medical management to avoid any recurrences, and a regular follow-up, are of utmost importance to detect any late complications such as local recurrence of the disease and development of hydatidosis at the primary sites.
