Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India.

Lynch syndrome (LS), the most common form of familial CRC predisposition that causes tumor onset at a young age, is characterized by the presence of microsatellite instability (MSI) in tumors due to germline inactivation of mismatch repair (MMR) system. Two MMR genes namely MLH1 and MSH2 account for majority of LS cases while MSH6 and PMS2 may account for a minor proportion. In order to identify MMR genes causing LS in India, we analyzed MSI and determined expression status of the four MMR genes in forty eight suspected LS patient colorectal tumor samples. Though a majority exhibited MSI, only 58% exhibited loss of MMR expression, a significantly low proportion compared to reports from other populations. PCR-DNA sequencing and MLPA-based mutation and exonic deletion/duplication screening respectively, revealed genetic lesions in samples with and without MMR gene expression. Interestingly, tumor samples with and without MMR expression exhibited significant differences with respect to histological (mucin content) and molecular (instability exhibited by mononucleotide microsatellites) features. The study has revealed for the first time a significant proportion of LS tumors not exhibiting loss of MMR expression.

Extragastrointestinal stromal tumor arising in the pancreas: a case report with a review of the literature.

CONTEXT: Extragastrointestinal stromal tumors arising in the pancreas are extremely rare. To date, only eight cases have been reported in the literature. CASE REPORT: A 42-year-old female patient presented with gradually increasing abdominal pain of 6-month duration. Computerized tomography scan of the abdomen demonstrated a solid cystic mass in the body and tail of the pancreas. En-block R0 resection of the mass with distal pancreatectomy, splenectomy and left hemicolectomy was carried out following a radiological diagnosis of a malignant cystic neoplasm of the pancreas. Histopathological and immunohistochemical findings of the lesion were consistent with a gastrointestinal stromal tumor. CONCLUSION: Extragastrointestinal stromal tumor of the pancreas, though rare, should be considered in the differential diagnosis of the more common cystic lesions at this site.

Predictors of successful non-operative management of grade III & IV blunt pancreatic trauma.

INTRODUCTION: Although surgery is the preferred treatment for grade III&IV pancreatic trauma, there is a growing movement for non-operative management. in blunt pancreatic trauma. Very few studies compare operative versus non-operative management in adult patients. METHODS: Retrospective analysis of a prospectively maintained database was performed from 2004 to 2013 in the department of gastrointestinal surgery, NIMS, Hyderabad. Comparative analysis was performed between patients who failed versus those who were successfully managed with non-operative management. RESULTS: 34 patients had grade III/IV trauma out of which 8 were operated early with the remaining 26 initially under a NOM strategy, 10 of them could be successfully managed without any operation. Post-traumatic pancreatitis, Necrotizing pancreatitis, Ileus, contusion on CT, surrounding organ injuries are independently associated with failure of NOM on a univariate analysis. On multivariate logistic regression presence of necrosis& associated organ injury are factors that predict failure of NOM independently. Development of a pseudocyst is the only significant factor that is associated with a success of NOM. CONCLUSIONS: Non-operative measures should be attempted in a select group of grade III&IV blunt pancreatic trauma. In hemodynamically stable patients with a controlled leak walled off as a pseudocyst without associated organ injuries and pancreatic necrosis, NOM has a higher success rate.