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Hereditary pancreatitis and secondary screening for early pancreatic cancer.
Rocz Akad Med Bialymst. 2005; 50:73-84.RA

Abstract

Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres.

Authors+Show Affiliations

Division of Surgery & Oncology, The University of Liverpool, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16358943

Citation

Vitone, L J., et al. "Hereditary Pancreatitis and Secondary Screening for Early Pancreatic Cancer." Roczniki Akademii Medycznej W Bialymstoku (1995), vol. 50, 2005, pp. 73-84.
Vitone LJ, Greenhalf W, Howes NR, et al. Hereditary pancreatitis and secondary screening for early pancreatic cancer. Rocz Akad Med Bialymst. 2005;50:73-84.
Vitone, L. J., Greenhalf, W., Howes, N. R., & Neoptolemos, J. P. (2005). Hereditary pancreatitis and secondary screening for early pancreatic cancer. Roczniki Akademii Medycznej W Bialymstoku (1995), 50, 73-84.
Vitone LJ, et al. Hereditary Pancreatitis and Secondary Screening for Early Pancreatic Cancer. Rocz Akad Med Bialymst. 2005;50:73-84. PubMed PMID: 16358943.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary pancreatitis and secondary screening for early pancreatic cancer. AU - Vitone,L J, AU - Greenhalf,W, AU - Howes,N R, AU - Neoptolemos,J P, PY - 2005/12/20/pubmed PY - 2006/2/1/medline PY - 2005/12/20/entrez SP - 73 EP - 84 JF - Roczniki Akademii Medycznej w Bialymstoku (1995) JO - Rocz. Akad. Med. Bialymst. VL - 50 N2 - Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres. UR - https://www.unboundmedicine.com/medline/citation/16358943/Hereditary_pancreatitis_and_secondary_screening_for_early_pancreatic_cancer_ L2 - http://www.diseaseinfosearch.org/result/3373 DB - PRIME DP - Unbound Medicine ER -