Molecular Characterization of Pancreatic Simple Mucinous Cysts With GNAS Mutation: A Case Report and Literature Review
Rattachement africain : jp, mx. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
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.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Molecular Characterization of Pancreatic Simple Mucinous Cysts With GNAS Mutation: A Case Report and Literature Review
- Date Crossref
- 01/08/2025
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Asahikawa Medical University Department of Surgery pays non établi dans la noticeUniversité ou école supérieure
-
Sapporo Higashi Tokushukai Hospital pays non établi dans la noticeÉtablissement de santé
-
Hospital Español pays non établi dans la noticeÉtablissement de santé
-
National Institute of Biomedical Innovation pays non établi dans la noticeStructure de recherche
-
Institute of Biomedical Research pays non établi dans la noticeStructure de recherche
-
Furano Hospital Department of Gastroenterology pays non établi dans la noticeÉtablissement de santé
-
National Institutes of Biomedical Innovation Center for Intractable Diseases and ImmunoGenomics pays non établi dans la noticeStructure de recherche
Department of Surgery — Asahikawa Medical University, Sapporo Higashi Tokushukai Hospital et Hospital Español, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.