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. 2014;39(1):77-82.
doi: 10.5114/ceji.2014.42129. Epub 2014 Apr 17.

Multiple gene mutations in patients with type 2 autoimmune pancreatitis and its clinical features

Feng Dong  1 , Qing-Quan Chen  2 , Ze-Hao Zhuang  3 , Qing-Liang He  4 , Feng-Qing Wang  5 , Qi-Cai Liu  5 , He-Kun Liu  6 , Yu Wang  7
Affiliations

Multiple gene mutations in patients with type 2 autoimmune pancreatitis and its clinical features

Feng Dong et al. Cent Eur J Immunol. 2014.

Abstract

Background: It is now clear that there are two histological types (type 1 and type 2) of autoimmune pancreatitis (AI P). The histological substance of type 1 AI P is known as lymphoplasmacytic sclerosing pancreatitis (LPSP) or traditional AIP, and type 2 AIP is characterized by distinct histology called idiopathic duct centric pancreatitis (IDCP). Serum IgG4 increase is considered as a marker for type 1 AI P. Far less is known about type 2 and it lacks predicting markers, so it easily leads to missed diagnosis and misdiagnosis.

The aim of this study: The aim of this study was to describe multi-gene mutations in patients with type 2 AI P and its clinical features.

Material and methods: Three unrelated patients with type 2 AI P, 10 cases with type 1 AIP, 15 cases with other chronic pancreatitis and 120 healthy individuals were studied. The mutations and polymorphisms of 6 genes involved in chronic pancreatitis or pancreatic cancer - PRSS1, SPINK1, CFTR, MEN1, PKHD1, and mitochondrial DNA - were sequenced. Information of clinical data was collected by personal interview using a structured questionnaire.

Results: Novel mutations were found in the genes encoding for MEN1 (p.546 Ala > The) and PKHD1 (c. 233586 A > G and c. 316713 C > T) from patients with type 2 AIP. What is more, the serum TCR (T cell receptor) level is relatively higher in patients with type 2 AIP than in patients with type 1 AIP and other chronic pancreatitis or normal controls. Weight loss was the major manifestation and no patients had extrapancreatic involvement in type 2 AIP.

Conclusions: Type 2 AIP may occur with multi-gene mutations. For screening purposes, it is more reasonable to evaluate TCR levels in serum.

Keywords: autoimmune pancreatitis; gene mutations; serum TCR; type 2.

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Figures

Fig. 1
Fig. 1
Different serum TCR in type 2 AIP, type 1 AIP, chronic pancreatitis, and normal controls
Fig. 2
Fig. 2
Sequencing of gene mutations of patients with type 2 AIP. A) sequencing of mitochondrial m.A3243G mutation of blood sample of patients with type 2 AIP (No.1); B) sequencing of MEN1 gene mutation (p.546 Ala > The) of blood samples of patients with type 2 AIP(No.1, No.3); C and D) sequencing of PKHD1 gene silent mutation c. 233586 A > G (No. 1 and No. 2) and c. 316713 C > T (No. 2 and No. 3) of blood samples of patients with type 2 AIP
Fig. 3
Fig. 3
Histopathologic examination of the pancreas (magnification 400×). A) large number of inflammatory cell infiltrations (mainly neutrophils). B) IgG4 staining, positive plasma cells < 10%
See this image and copyright information in PMC

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