In:
Digestion, S. Karger AG, Vol. 78, No. 1 ( 2008), p. 60-65
Abstract:
〈 i 〉 Background/Aims: 〈 /i 〉 Hereditary pancreatitis (HP) is a rare cause of chronic pancreatitis (CP; 1%) and more than 25 mutations in the 〈 i 〉 PRSS1 〈 /i 〉 gene have been detected. HP patients with the p.R122H mutation have a 35% lifetime risk of developing pancreatic cancer, but the oncogenetic process remains unknown. We have investigated the histopathological features and frequency of 〈 i 〉 BRAF 〈 /i 〉 and 〈 i 〉 KRAS2 〈 /i 〉 mutations in 2 patients with 〈 i 〉 PRSS1 〈 /i 〉 mutations (p.A121T, p.R122H) and patients with CP (n = 11). 〈 i 〉 Methods: 〈 /i 〉 Pancreatic tissue was stained with hematoxylin-eosin and examined by light microscopy. Mutational analysis of the 〈 i 〉 BRAF 〈 /i 〉 (exon 5, 11) and 〈 i 〉 KRAS2 〈 /i 〉 (exon 1) genes was performed using PCR and direct DNA sequencing. 〈 i 〉 Results: 〈 /i 〉 Histopathological features revealed similar results in both patients, pancreata showed strong fibrosis and ducts with signs of distortion, irregular size and noticeable dilatations. We identified one 〈 i 〉 BRAF 〈 /i 〉 mutation (p.V600E) in the p.R122H patient and two 〈 i 〉 KRAS2 〈 /i 〉 (p.G12D; p.G12C) mutations in CP controls. 〈 i 〉 Conclusions: 〈 /i 〉 Our results sustain the knowledge about the clinical phenotype of patients with 〈 i 〉 PRSS1 〈 /i 〉 mutations who have a high risk of pancreatic cancer. Whether the histopathological picture or the 〈 i 〉 BRAF 〈 /i 〉 mutation is specific for patients with 〈 i 〉 PRSS1 〈 /i 〉 mutations or plays a specific role in the tumorigenesis of patients with HP needs to be further evaluated.
Type of Medium:
Online Resource
ISSN:
0012-2823
,
1421-9867
Language:
English
Publisher:
S. Karger AG
Publication Date:
2008
detail.hit.zdb_id:
1482218-0
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