Figure 3.
A summary of clinical presentation, imaging findings, pathologic features, preoperative PancreaSeq testing, and postoperative PancreaSeq/Oncomine results for 251 patients with pancreatic cyst with diagnostic surgical pathology. Preoperative genomic alterations involving KRAS, GNAS, and/or BRAF corresponded to the presence of a mucinous cyst, whereas additional alterations in TP53, SMAD4, CTNNB1, and/or the mTOR genes were preferentially found in mucinous cysts with advanced neoplasia. Other key findings were the preoperative detection of LOH for multiple genes that correlated with the presence of a cystic PanNET, and the identification of TP53 and TERT promoter mutations in large SCAs. Postoperative PancreaSeq/Oncomine testing revealed the presence of novel BRAF fusion genes and ERBB2 amplification in RAS wild-type IPMNs (Supplementary Figure 3). Moreover, CDKN2A alterations were preferentially found in IPMNs with advanced neoplasia. MAPK genes include KRAS, BRAF, FIRAS, ERBB2, and MAPK1, and mTOR genes include PTEN, PIK3CA, and AKT1.