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Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance. These genes have not been systematically characterized among patients with PCC/PGL from India. The aim of the work was to screen the most frequently mutated genes among patients with PCC/PGL to determine the frequency and spectrum of mutations seen in this region. Fifty patients with PCC/PGL treated at our tertiary care hospital between January 2010 and June 2012 were screened for mutations in susceptibility genes using an algorithmic approach. Thirty two percent (16/50) of patients were found to be positive for mutations including mutations among RET (n = 4), VHL (n = 6), SDHB (n = 3), and SDHD (n = 3) genes. None of these patients were positive for SDHC mutations. A significant association was found between young patients with bilateral tumors and VHL mutations (p = 0.002). Two of the 3 patients with extra-adrenal SDHB associated tumors, had unique mutations, viz., c.436delT (exon 5) and c.788_857del (exon 8), one of which was malignant. High frequency of mutations seen among patients in this study emphasizes the need to consider mutational analysis among Indian patients with PCC/PGL. [ABSTRACT FROM AUTHOR]

The aim of this study was to describe the localization and management of patients with pancreatic insulinomas and determine the most effective localization and surgical techniques in the presence of significant financial constraints in the patient population. We retrospectively reviewed the case records of 18 patients with insulinomas treated at our institution over a period of 10 years. The medical records were reviewed for demographic data, clinical presentation, biochemistry, details of localization studies, intraoperative findings, postoperative outcome, and long-term follow-up. The sensitivities of the various localization procedures were calculated using the intraoperative findings as the gold standard. There were 10 men and 8 women in the study, with a median age of 43 years. All patients underwent a supervised 72-hour fast and developed symptomatic hypoglycemia within 48 hours. An average of 1.9 localization procedures was performed per patient. Computed tomography (CT) had a sensitivity of 62% and specificity of 100%. Magnetic resonance imaging and digital subtraction angiography had specificities of 85% and 100%, respectively, with a specificity of 66% and 50%, respectively. Fourteen patients underwent surgery. Intraoperatively the excised tumor was palpable in nine patients, and all patients had postoperative euglycemia. In five patients the tumor was not palpable during the time of surgery; three of these patients underwent blind distal pancreactomy, with two patients having persistent hypoglycemia during the postoperative period. Two patients had a negative exploratory laparotomy. Patients with a surgical cure were followed up for a mean period of 24 months. On the background of financial constraints in connection with patient care, CT scanning is a cost-effective option with good specificity. Intraoperative palpation of the tumor and enucleation is the most effective technique for surgical cure. Blind distal pancreactomy is not advocated for tumors that are not localized intraoperatively. [ABSTRACT FROM AUTHOR]