Pancreas · 2026
Molecular Characterization of Pancreatic Simple Mucinous Cysts With GNAS Mutation: A Case Report and Literature Review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Mizukami Shoichiro, Imai Koji, Takahashi Hiroyuki, Shimada Shingo, Tamamura Nobue, Mori Miyuki, Nishikawa Koji, Ono Yusuke, Tanino Mishie, Mizukami Yusuke, Yokoo Hideki
Аннотация
OBJECTIVES: Pancreatic simple mucinous cysts (SMCs) are characterized by cystic lesions >1 cm in size, lacking ovarian-type stroma and lined by a single layer of bland epithelium. Although SMCs are typically considered benign, sporadic cases with KRAS mutations suggest its potential inclusion within the spectrum of low-grade mucinous neoplasms. This study reported a case of pancreatic SMC with co-occurring KRAS and GNAS mutations to discuss their potential implications in the management of pancreatic cystic lesions.
MATERIALS AND METHODS: A 54-year-old woman with a 5-year history of pancreatic cysts was initially diagnosed with a branch-duct intraductal papillary mucinous neoplasm presented with abdominal distension. Imaging revealed a rapidly enlarging cystic lesion, prompting spleen-preserving distal pancreatectomy. Targeted amplicon sequencing was performed on the resected cystic wall and background pancreatic tissues. In addition, a literature review of 127 reported SMC cases was conducted to analyze demographics, imaging findings, pathologic findings, and genetic mutations.
RESULTS: Histopathologic analysis confirmed SMC, and genetic testing revealed KRAS and GNAS mutations in the cyst walls. At 32 months after surgery, the patient remained recurrence-free. The median age of the 127 patients was 66 years. The common imaging features included cyst enlargement and wall enhancement. KRAS mutations were found in 35% of the 65 cases, and our case is the first to report GNAS mutations.
CONCLUSION: This is the first report of pancreatic SMC with co-occurring KRAS and GNAS mutations. SMC should be considered a differential diagnosis of pancreatic cystic lesions. Surgical intervention may be warranted based on findings.
MATERIALS AND METHODS: A 54-year-old woman with a 5-year history of pancreatic cysts was initially diagnosed with a branch-duct intraductal papillary mucinous neoplasm presented with abdominal distension. Imaging revealed a rapidly enlarging cystic lesion, prompting spleen-preserving distal pancreatectomy. Targeted amplicon sequencing was performed on the resected cystic wall and background pancreatic tissues. In addition, a literature review of 127 reported SMC cases was conducted to analyze demographics, imaging findings, pathologic findings, and genetic mutations.
RESULTS: Histopathologic analysis confirmed SMC, and genetic testing revealed KRAS and GNAS mutations in the cyst walls. At 32 months after surgery, the patient remained recurrence-free. The median age of the 127 patients was 66 years. The common imaging features included cyst enlargement and wall enhancement. KRAS mutations were found in 35% of the 65 cases, and our case is the first to report GNAS mutations.
CONCLUSION: This is the first report of pancreatic SMC with co-occurring KRAS and GNAS mutations. SMC should be considered a differential diagnosis of pancreatic cystic lesions. Surgical intervention may be warranted based on findings.