RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor

An intraductal papillary mucinous neoplasm (IPMN) is a common pancreatic precursor lesion, and it often harbors mutations in KRAS, GNAS, and RNF43. To clarify the molecular profiles of IPMNs, we conducted mutation analysis of KRAS, GNAS, and RNF43 in 61 IPMN formalin-fixed, paraffin-embedded (FFPE)...

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Published in:Gastroenterology research and practice 2020, Vol.2020 (2020), p.1-10
Main Authors: Wang, Peng Yan, Jiang, Ying, Wu, Yan, Chang, Xiao Yan, Chen, Jie
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Cancer
Classification
Deoxyribonucleic acid
DNA
Medical prognosis
Morphology
Mutation
Proteins
Survival analysis
Tumors
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description An intraductal papillary mucinous neoplasm (IPMN) is a common pancreatic precursor lesion, and it often harbors mutations in KRAS, GNAS, and RNF43. To clarify the molecular profiles of IPMNs, we conducted mutation analysis of KRAS, GNAS, and RNF43 in 61 IPMN formalin-fixed, paraffin-embedded (FFPE) specimens. The mutation rates of codons 12, 13, and 61 in KRAS and codon 201 in GNAS were detected by Sanger sequencing. Next-generation sequencing was performed on RNF43, and the results were further verified by Sanger sequencing. We identified KRAS and GNAS mutations in 35 (57%) and 40 (66%) IPMN cases, respectively. GNAS mutations were significantly correlated with the morphologic subtype (P
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To clarify the molecular profiles of IPMNs, we conducted mutation analysis of KRAS, GNAS, and RNF43 in 61 IPMN formalin-fixed, paraffin-embedded (FFPE) specimens. The mutation rates of codons 12, 13, and 61 in KRAS and codon 201 in GNAS were detected by Sanger sequencing. Next-generation sequencing was performed on RNF43, and the results were further verified by Sanger sequencing. We identified KRAS and GNAS mutations in 35 (57%) and 40 (66%) IPMN cases, respectively. GNAS mutations were significantly correlated with the morphologic subtype (P&lt;0.001) and were more prevalent in the intestinal subtype (93%) than in the gastric (55%) and pancreatobiliary subtypes (44%) but were absent in the oncocytic subtype. RNF43 mutations were found in 5 cases (8%), all of which occurred in high-grade dysplasia and invasive lesions (2/5 and 3/5). All 5 cases harboring RNF43 mutations also exhibited GNAS mutations. RNF43 mutations were associated with a worse prognosis in invasive IPMN patients (P=0.002), while KRAS and GNAS mutations did not affect the prognosis of patients.</description><identifier>ISSN: 1687-6121</identifier><identifier>EISSN: 1687-630X</identifier><identifier>DOI: 10.1155/2020/1457452</identifier><identifier>PMID: 32934653</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Publishing Corporation</publisher><subject>Cancer ; Classification ; Deoxyribonucleic acid ; DNA ; Medical prognosis ; Morphology ; Mutation ; Proteins ; Survival analysis ; Tumors</subject><ispartof>Gastroenterology research and practice, 2020, Vol.2020 (2020), p.1-10</ispartof><rights>Copyright © 2020 Xiao Yan Chang et al.</rights><rights>Copyright © 2020 Xiao Yan Chang et al. 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subjects Cancer
Classification
Deoxyribonucleic acid
DNA
Medical prognosis
Morphology
Mutation
Proteins
Survival analysis
Tumors
title RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor
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