Identification of a Novel Kindred with Familial Pancreatitis and Pancreatic Cancer |
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| Authors: | Jennifer LaFemina Penelope A Roberts Yin P Hung James F Gusella Dushyant Sahani Carlos Fernández-del Castillo Andrew L Warshaw Sarah P Thayer |
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| Institution: | 1. Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, Mass., USA;2. Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Mass., USA;3. Harvard Partners Center for Genetics and Genomics, Harvard Medical School, Boston, Mass., USA;4. Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Mass., USA;1. Mech-Sense, Department of Gastroenterology and Hepatology, Aalborg Hospital, Aarhus University, Denmark;2. Mech-Sense, Department of Radiology, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark;3. Department of Medicine, Haukeland University Hospital, Bergen, Norway;4. Institute of Medicine, University of Bergen, Bergen, Norway;5. Institute of Medicine, Department of Internal Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden;6. Center for Sensory-Motor Interactions (SMI), Department of Health Science and Technology, Aalborg University, Aalborg, Denmark;1. Department of Emergency Medicine, Baystate Medical Center, Tufts University School of Medicine, Springfield, MA;2. Department of Emergency Medicine, University of Nebraska Medical Center, Omaha, NE;1. Department of Biochemistry, Institute of Glycobiology, Dalian Medical University, 9 South Lvshun Road Western Section, Dalian 116044, Liaoning, China;2. School of Life Science and Medicine, Dalian University of Technology, 2 Linggong Road, Dalian 116024, China;3. Department of Respiratory Medicine, The Second Affiliated Hospital of Dalian Medical University, Dalian 116011, China;4. Department of Oncology, Shanghai Tenth People''s Hospital of Tongji University, Shanghai 200072, China;1. Department of Molecular Biochemistry & Clinical Investigation, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan;2. aMs New Otani Clinic, Osaka, Osaka, Japan;3. J-Oil Mills Incorporation, Yokohama, Kanagawa, Japan;4. Department of Gastroenterology, Ogaki Municipal Hospital, Ogaki, Gifu, Japan;5. Department of Gastroenterology and Hepatology, Japan Community Health Care Organization Osaka Hospital, Osaka, Osaka, Japan;6. Department of Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan;7. Department of Surgery, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan |
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| Abstract: | Background/Aims: Hereditary pancreatic cancer comprises about 10% of pancreatic cancer cases. Multiple causative mutations have been identified. Here we describe a pancreatitis/pancreatic cancer (P/PC) family, which demonstrates pancreatitis and pancreatic cancer resulting from an uncharacterized mutation. Methods: Family members completed evaluations to determine signs of mutation status. Select patients were screened for mutations associated with hereditary pancreatic diseases. Results: In generation II, 12 siblings exhibit 6 cases of pancreatitis, 3 pancreatic cancer, and 2 obligate carrier status. The average age at pancreatitis diagnosis of enrolled members is 32.5 years; average age at pancreatic cancer diagnosis is 59 years. There is no association with known cancer syndromes. Those affected generally present with mild epigastric pain, and CT scans demonstrate characteristic fatty infiltration of the pancreatic body and tail with sparing of the head and neck. Full sequenceanalysis of genes associated with hereditary pancreatic disease failed to dem- onstrate known mutations or polymorphisms. Conclusion: Based upon pedigree evaluation and preliminary DNA analysis, we believe that the family members with P/PC carry a novel genetic mutation resulting in hereditary pancreatitis. This mutation is autosomal dominant, expressed with high penetrance, and is part of a unique hereditary syndrome that significantly increases pancreatic cancer risk. |
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