WEDNESDAY, July 27 (HealthDay News) -- Mutations in GNAS are present in 66 percent of intraductal papillary mucinous neoplasms (IPMNs), while 96 percent of IPMNs have a mutation in GNAS and/or KRAS, according to a study published online July 20 in Science Translational Medicine.
Jian Wu, Ph.D., from the Johns Hopkins Kimmel Cancer Center in Baltimore, and colleagues investigated the differences between harmless and precancerous pancreatic cysts. DNA derived from the IPMN cyst fluid of 19 patients was purified, and the presence of mutations in 169 cancer-causing genes was investigated. The prevalence of KRAS and GNAS mutations was identified by analyzing 113 additional IPMNs.
The investigators identified recurrent mutations at codon 201 of GNAS in 66 percent of IPMNs. In 96 percent of IPMNs the KRAS or GNAS mutations were found. Eight cases of invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations were investigated, and in seven of these the GNAS mutation was also found in the invasive lesion. GNAS mutations were not found in other types of pancreatic cystic neoplasms or in invasive adenocarcinomas not linked with IPMNs.
"In addition to defining a new pathway for pancreatic neoplasia, these data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions," the authors write.