title: Activating mutations of GNAS and KRAS in cystic fluid can help detect intraductal papillary mucinous neoplasms of the pancreas.
abstract: Intraductal papillary mucinous neoplasms (IPMNs) of the pancreas have a risk of malignant transformation following an adenoma-carcinoma sequence. Surgical resection is often required, especially for main pancreatic duct IPMNs (MD-IPMNs). There is an urgent need for novel biomarkers to reliably differentiate IPMNs from more benign pancreatic cysts and therefore avoid unnecessary surgery. DNA sequencing has demonstrated that guanine nucleotide binding protein alpha stimulating (GNAS) activity polypeptide 1 mutations play a driving role in IPMN development. GNAS mutations have been shown to be highly specific for IPMNs, whereas oncogenic KRAS mutations have been associated with mucinous differentiation. The evaluated article by Singhi et al. helps to define the role of these mutations as biomarkers in preoperative endoscopic ultrasound fine-needle aspiration samples for detecting IPMNs. They found that the presence of a GNAS and/or a KRAS mutation was highly specific and sensitive for IPMNs.
authors: Department of Surgery and Cancer, HPB Surgical Unit, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London, W12 0HS, UK.
authors: Adam E
authors: AE
authors: Frampton
authors: Justin
authors: J
authors: Stebbing
authors: Tamara M H
authors: TM
authors: Gall
authors: Benjamin
authors: B
authors: Silver
authors: Long R
authors: LR
authors: Jiao
authors: Jonathan
authors: J
authors: Krell
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010181:Pancreatic Cyst / Q000473:pathology*; D010190:Pancreatic Neoplasms / Q000175:diagnosis*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D011518:Proto-Oncogene Proteins; D019205:GTP-Binding Protein alpha Subunits, Gs; D018631:ras Proteins
keywords: GNAS; KRAS; biomarkers; diagnostic; endoscopic ultrasound; intraductal papillary mucinous neoplasm; pancreatic cyst