US 2014/0179538 A1 · MUTATIONS IN PANCREATIC NEOPLASMS

Abstract

To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.

Claims22

Dependent claims

A method for distinguishing between pancreatic serous cystic adenomas (SCA) and pancreatic intraductal papillary mucinous neoplasms (IPMN), comprising the step of:

testing a sample from pancreatic cyst fluid or pancreatic cyst wall tissue for the presence of a mutation at codon 201 in GNAS, wherein detection of the mutation indicates IPMN and not SCA.

Dependencies are inferred from the claim text.

Mutations in pancreatic neoplasms

Life of this patent

Mutations in pancreatic neoplasms

Life of this patent

Abstract

Claims22