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Critical Reviews™ in Oncogenesis
SJR: 0.631 SNIP: 0.503 CiteScore™: 2

ISSN 印刷: 0893-9675
ISSN オンライン: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.2019031637
pages 149-156

Familial Pancreatic Cancer: A Critical Review

Asad ur Rahman
Department of Gastroenterology, Cleveland Clinic, Weston, FL 33331
Effa Zahid
Services Institute of Medical Sciences, Lahore, Punjab 54000, Pakistan
Muhammad Talha Khan
Department of Internal Medicine, Carle Hospital, Urbana, IL 61801
Awais Naeem
Department of Medicine, Khyber Teaching Hospital, Peshawar, Khyber Pakhtunkhwa 25000, Pakistan
Saeed Ali
Department of Medicine, University of Iowa Health Care, Iowa City, IA 52242
Mamoon Ur Rashid
Department of Gastroenterology, Cleveland Clinic, Weston, Florida; Department of Internal Medicine, AdventHealth, Orlando, FL 32804
Sarfraz Ahmad
Department of Gynecologic Oncology, AdventHealth Cancer Institute, Orlando, FL 32804

要約

Up to 20% of patients with pancreatic cancer have a family history of the disease. Familial pancreatic cancer is defined as at least two first-degree relatives with pancreatic cancer that occurs without being part of a cancer syndrome. Although this does not follow a specific Mendelian pattern of inheritance, research is underway to better understand this cohort of patients. Recent expert opinion/recommendations encourage physicians treating patients with pancreatic cancer to ask them to consider having germline testing. Herein, we summarize the current peer-reviewed literature on the most common syndromes associated with pancreatic cancer, associated genetic mutations, and recommendations from various consortia regarding screening strategies. Lastly, we describe the economic impact of pancreatic cancer and the impact of screening tools in high-risk populations.

参考

  1. Cancer Stat Facts: Pancreatic Cancer [database on the Internet]. Bethesda (MD): U.S. Department of Health and Human Services. National Institutes of Health, National Cancer Institute. Surveillance, Epidemiology, and End Results Program. c2019 (cited 2019 Jul 23). Available from: https://seer.cancer.gov/statfacts/html/pancreas.html.

  2. Rahib L, Smith BD, Aizenberg R, Rosenzweig AB, Fleshman JM, Matrisian LM. Projecting cancer incidence and deaths to 2030: The unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res. 2014;74(11):2913-21.

  3. Permuth-Wey J, Egan KM. Family history is a significant risk factor for pancreatic cancer: Results from a systematic review and meta-analysis. Fam Cancer. 2009;8(2):109-117.

  4. Brentnall TA. Management strategies for patients with hereditary pancreatic cancer. Curr Treat Options Oncol. 2005;6(5):437-45.

  5. Fesinmeyer MD, Austin MA, Li CI, De Roos AJ, Bowen DJ. Differences in survival by histologic type of pancreatic cancer. Cancer Epidemiol Biomarkers Prev. 2005;14(7):1766-73.

  6. Grant TJ, Hua K, Singh A. Molecular pathogenesis of pancreatic cancer. Prog Mol Biol Transl Sci. 2016;144:241-75.

  7. Terhune PG, Phifer DM, Tosteson TD, Longnecker DS. K-ras mutation in focal proliferative lesions of human pancreas. Cancer Epidemiol Biomarkers Prev. 1998;7(6):515-21.

  8. Shi C, Klein AP, Goggins M, Maitra A, Canto M, Ali S, Schulick R, Palmisano E, Hruban RH. Increased prevalence of precursor lesions in familial pancreatic cancer patients. Clin Cancer Res. 2009;15(24):7737-43.

  9. Furukawa T, Kloppel G, Volkan Adsay N, Albores-Saavedra J, Fukushima N, Horii A, Hruban RH, Kato Y, Klimstra DS, Longnecker DS, Luttges J, Offerhaus GJ, Shimizu M, Sunamura M, Suriawinata A, Takaori K, Yonezawa S. Classification of types of intraductal papillary-mucinous neoplasm of the pancreas: A consensus study. Virchows Arch. 2005;447(5):794-9.

  10. Grutzmann R, Niedergethmann M, Pilarsky C, Kloppel G, Saeger HD. Intraductal papillary mucinous tumors of the pancreas: Biology, diagnosis, and treatment. Oncologist. 2010;15(12):1294-309.

  11. Klibansky DA, Reid-Lombardo KM, Gordon SR, Gardner TB. The clinical relevance of the increasing incidence of intraductal papillary mucinous neoplasm. Clin Gastroenterol Hepatol. 2012;10(5):555-8.

  12. Porta M, Fabregat X, Malats N, Guarner L, Carrato A, de Miguel A, Ruiz L, Jariod M, Costafreda S, Coll S, Alguacil J, Corominas JM, Sola R, Salas A, Real FX. Exocrine pancreatic cancer: Symptoms at presentation and their relation to tumour site and stage. Clin Transl Oncol. 2005;7(5):189-97.

  13. Petersen GM, de Andrade M, Goggins M, Hruban RH, Bondy M, Korczak JF, Gallinger S, Lynch HT, Syngal S, Rabe KG, Seminara D, Klein AP. Pancreatic cancer genetic epidemiology consortium. Cancer Epidemiol Biomarkers Prev. 2006;15(4):704-10.

  14. Modolell I, Guarner L, Malagelada JR. Vagaries of clinical presentation of pancreatic and biliary tract cancer. Ann Oncol. 1999;10(Suppl 4):82-4.

  15. Hezel AF, Kimmelman AC, Stanger BZ, Bardeesy N, Depinho RA. Genetics and biology of pancreatic ductal adenocarcinoma. Genes Dev. 2006;20(10):1218-49.

  16. Bailey P, Chang DK, Nones K, Johns AL, Patch AM, Gingras MC, Miller DK, Christ AN, Bruxner TJ, Quinn MC, Nourse C, Murtaugh LC, Harliwong I, Idrisoglu S, Manning S, Nourbakhsh, Wani S, Fink L, Holmes O, Chin V, Anderson MJ, Kazakoff S, Leonard C, Newell F, Waddell N, Wood S, Xu Q, Wilson PJ, Cloonan N, Kassahn KS, Taylor D, Quek K, Robertson A, Pantano L, Mincarelli L, Sanchez LN, Evers L, Wu 24. J, Pinese M, Cowley MJ, Jones MD, Colvin EK, Nagrial AM, Humpfrey ES, Chantrill LA, Mawson A, Humphris J, Chou A, Pajic M, Scarlett CJ, Pinho AV, Giry-Laterriere M, Rooman I, Samra JS, Kench JG, Lovell JA, Merrett ND, Toon CW, Epari K, Nguyen NQ, Barbour A, Zeps N, Moran-Jones K, Jamieson NB, Graham JS, Duthie F, Oien K, Hair J, Grutzmann R, Maitra A, Iacobuzio-Donahue CA, Wolfgang CL, Morgan RA, Lawlor RT, Corbo V, Bassi C, Rusev B, Capelli P, Salvia R, Tortora G, Mukhopadhyay D, Peterson GM, Australian Pancreatic Cancer Genome Initiative, Munzey DM, Fisher WE, Karim SA, Eshleman JR, Hruban RH, Pilarsky C, Morton JP Sansom OJ, Scarpa A, Musgrove EA, Bailey UM, clinical presentation of pancreatic and biliary tract cancer. Ann Oncol. 1999;10(Suppl 4):82-4.

  17. Hezel AF, Kimmelman AC, Stanger BZ, Bardeesy N, Depinho RA. Genetics and biology of pancreatic ductal adenocarcinoma. Genes Dev. 2006;20(10):1218-49.

  18. Bailey P, Chang DK, Nones K, Johns AL, Patch AM, Gingras MC, Miller DK, Christ AN, Bruxner TJ, Quinn MC, Nourse C, Murtaugh LC, Harliwong I, Idrisoglu S, Manning S, Nourbakhsh, Wani S, Fink L, Holmes O, Chin V, Anderson MJ, Kazakoff S, Leonard C, Newell F, Waddell N, Wood S, Xu Q, Wilson PJ, Cloonan N, Kassahn KS, Taylor D, Quek K, Robertson A, Pantano L, Mincarelli L, Sanchez LN, Evers L, Wu J, Pinese M, Cowley MJ, Jones MD, Colvin EK, Nagrial AM, Humpfrey ES, Chantrill LA, Mawson A, Humphris J, Chou A, Pajic M, Scarlett CJ, Pinho AV, Giry-Laterriere M, Rooman I, Samra JS, Kench JG, Lovell JA, Merrett ND, Toon CW, Epari K, Nguyen NQ, Barbour A, Zeps N, Moran-Jones K, Jamieson NB, Graham JS, Duthie F, Oien K, Hair J, Grutzmann R, Maitra A, Iacobuzio-Donahue CA, Wolfgang CL, Morgan RA, Lawlor RT, Corbo V, Bassi C, Rusev B, Capelli P, Salvia R, Tortora G, Mukhopadhyay D, Peterson GM, Australian Pancreatic Cancer Genome Initiative, Munzey DM, Fisher WE, Karim SA, Eshleman JR, Hruban RH, Pilarsky C, Morton JP, Sansom OJ, Scarpa A, Musgrove EA, Bailey UM, Hofmann O, Sutherland R, Wheeler DA, Gill AJ, Gibbs RA, Pearson JV, Waddell N, Blankin AV, Grimmond SM. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016;531(7592):47-52.

  19. Moskaluk CA, Hruban RH, Kern SE. p16 and K-ras gene mutations in the intraductal precursors of human pancreatic adenocarcinoma. Cancer Res. 1997;57(11):2140-3.

  20. Jimenez RE, Warshaw AL, Z'graggen K, Hartwig W, Taylor DZ, Compton CC, Fernandez-del Castillo C. Sequential accumulation of K-ras mutations and p53 overexpression in the progression of pancreatic mucinous cystic neoplasms to malignancy. Ann Surg. 1999;230(4):501-9.

  21. Schutte M, Hruban RH, Geradts J, Maynard R, Hilgers W, Rabindran SK, Moskaluk CA, Hahn SA, Schwarte-Waldhoff I, Schmiegel W, Baylin SB, Kern SE, Herman JG. Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. Cancer Res. 1997;57(15):3126-30.

  22. Redston MS, Caldas C, Seymour AB, Hruban RH, da Costa L, Yeo CJ, Kern SE. p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions. Cancer Res.1994;54(11):3025-33.

  23. Hahn SA, Schutte M, Hoque AT, Moskaluk CA, da Costa LT, Rozenblum E, Weinstein CL, Fischer A, Yeo CJ, Hruban RH, Kern SE. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science. 1996;271(5247):350-3.

  24. Klein AP, Brune KA, Petersen GM, Goggins M, Tersmette AC, Offerhaus GJ, Griffin C, Cameron JL, Yeo CJ, Kern S, Hruban RH. Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds. Cancer Res. 2004;64(7):2634-8.

  25. Brune KA, Lau B, Palmisano E, Canto M, Goggins MG, Hruban RH, Klein AP. Importance of age of onset in pancreatic cancer kindreds. J Natl Cancer Inst. 2010;102(2):119-26.

  26. Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ. Association between inherited germline mutations in cancer predisposition genes and risk of pancreatic cancer. JAMA. 2018;319(23):2401-9.

  27. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos JP, Greenhalf W, Bartsch DK. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010;78(5):490-4.

  28. Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, Fontaine LS, Organic SM, Dracopoli NC, Clark WH Jr. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med. 1995;333(15):970-4.

  29. Hruban RH, Petersen GM, Ha PK, Kern SE. Genetics of pancreatic cancer. From genes to families. Surg Oncol Clin N Am. 1998;7(1):1-23.

  30. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53.

  31. Sato N, Rosty C, Jansen M, Fukushima N, Ueki T, Yeo CJ, Cameron JL, Iacobuzio-Donahue CA, Hruban RH, Goggins M. STK11/LKB1 Peutz-Jeghers gene inactivation in intraductal papillary-mucinous neoplasms of the pancreas. Am J Pathol. 2001;159(6):2017-22.

  32. Leoz ML, Sanchez A, Carballal S, Ruano L, Ocana T, Pellise M, Castells A, Balaguer F, Moreira L. Hereditary gastric and pancreatic cancer predisposition syndromes. Gastroenterol Hepatol. 2016;39(7):481-93.

  33. Nakata B, Wang YQ, Yashiro M, Nishioka N, Tanaka H, Ohira M, Ishikawa T, Nishino H, Hirakawa K. Prognostic value of microsatellite instability in resectable pancreatic cancer. Clin Cancer Res. 2002;8(8):2536-40.

  34. Duell EJ, Lucenteforte E, Olson SH, Bracci PM, Li D, Risch HA, Silverman DT, Ji BT, Gallinger S, Holly EA, Fontham EH, Maisonneuve P, Bueno-de-Mesquita HB, Ghadirian P, Kurtz RC, Ludwig E, Yu H, Lowenfels AB, Seminara D, Petersen GM, La Vecchia C, Boffetta P. Pancreatitis and pancreatic cancer risk: A pooled analysis in the International Pancreatic Cancer Case-Control Consortium (PanC4). Ann Oncol. 2012;23(11):2964-70.

  35. Rebours V, Boutron-Ruault MC, Schnee M, Ferec C, Maire F, Hammel P, Ruszniewski P, Levy P. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: A national exhaustive series. Am J Gastroenterol. 2008;103(1):111-9.

  36. Clinical Summary. Pancreatic Cancer: Screening [database on the Internet]. Rockville (MD): U.S. Preventive Services Task Force. c2004 (cited 2019 July 24). Available from: http://www.uspreventiveservicestaskforce.org/ Page/Document/ClinicalSummaryFinal/pancreatic-cancer-screening.

  37. Summary of Recommendations for Clinical Preventive Services [database on the Internet]. Leawood (KS): American Academy of Family Physicians. c2015 (cited 2019 Jul 24). Available from: https://www. aafp.org/dam/AAFP/documents/patient_care/clinical_recommendations/cps-recommendations.pdf.

  38. Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ, Chak A, Fockens P, Goggins M, Bruno M. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013;62(3):339-47.

  39. Corral JE, Mareth KF, Riegert-Johnson DL, Das A, Wallace MB. Diagnostic yield from screening asymptomatic individuals at high risk for pancreatic cancer: A meta-analysis of cohort studies. Clin Gastroenterol Hepatol. 2019;17(1):41-53.

  40. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223-62.

  41. Stoffel EM, McKernin SE, Brand R, Canto M, Goggins M, Moravek C, Nagarajan A, Petersen GM, Simeone DM, Yurgelun M, Khorana AA. Evaluating susceptibility to pancreatic cancer: ASCO Provisional Clinical Opinion. J Clin Oncol. 2019;37(2):153-64.

  42. DaCosta Byfield S, Nash Smyth E, Mytelka D, Bowman L, Teitelbaum A. Healthcare costs, treatment patterns, and resource utilization among pancreatic cancer patients in a managed care population. J Med Econ. 2013;16(12):1379-86.

  43. Soefje SA. Managing the economic impact of advanced pancreatic cancer. Am J Manag Care. 2019;25(1 Suppl):S11-6.

  44. Rulyak SJ, Kimmey MB, Veenstra DL, Brentnall TA. Cost-effectiveness of pancreatic cancer screening in familial pancreatic cancer kindreds. Gastrointest Endosc. 2003;57(1):23-9.

  45. Bruenderman E, Martin RC 2nd. A cost analysis of a pancreatic cancer screening protocol in high-risk populations. Am J Surg. 2015;210(3):409-16.


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