Báo cáo tiến triển: Ung thư tụy gia đình

Springer Science and Business Media LLC - Tập 18 - Trang 359-362 - 2019
Ioannis Mintziras1, Detlef K. Bartsch2
1Department of Visceral-, Thoracic and Vascular Surgery, Philipps-University Marburg, Marburg, Germany
2Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany

Tóm tắt

Sự thuận lợi di truyền đối với ung thư ống tụy dạng nang (PDAC) được báo cáo ở khoảng 5% bệnh nhân. Ung thư tụy gia đình (FPC) chiếm phần lớn các trường hợp PDAC di truyền. FPC định nghĩa các gia đình có hai hoặc nhiều người thân trực hệ bị ảnh hưởng bởi PDAC mà không đáp ứng tiêu chuẩn của bất kỳ hội chứng khối u di truyền nào khác, hoặc các gia đình có PDAC ở ba hoặc nhiều người thân ở bất kỳ mức độ nào. Báo cáo tiến triển hiện tại tập trung vào kiến thức về FPC liên quan đến sinh bệnh học phân tử, chẩn đoán lâm sàng và phân tử, giám sát và các phương pháp điều trị mới được báo cáo trong 5 năm qua.

Từ khóa

#ung thư tụy gia đình #PDAC #chẩn đoán lâm sàng #sinh bệnh học phân tử #phương pháp điều trị mới

Tài liệu tham khảo

Bartsch DK, Gress TM, Langer P (2012) Familial pancreatic cancer—current knowledge. Nat Rev Gastroenterol Hepatol 9(8):445–453 Canto MI, Harinck F, Hruban RH et al (2013) International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62(3):339–347 Schneider R, Slater EP, Sina M et al (2011) German national case collection for familial pancreatic cancer (FaPaCa): ten years experience. Fam Cancer 10(2):323–330 Bartsch DK, Dietzel K, Bargello M et al (2013) Multiple small “imaging” branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in familial pancreatic cancer: indicator for concomitant high grade pancreatic intraepithelial neoplasia? Fam Cancer 12(1):89–96 Vasen H, Ibrahim I, Ponce CG et al (2016) Benefit of surveillance for pancreatic cancer in high-risk individuals: outcome of long-term prospective follow-up studies from three european expert centers. J Clin Oncol 34(17):2010–2019 Potjer TP, Schot I, Langer P et al (2013) Variation in precursor lesions of pancreatic cancer among high-risk groups. Clin Cancer Res 19(2):442–449 Zhen DB, Rabe KG, Gallinger S et al (2015) BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genet Med 17(7):569–577. https://doi.org/10.1038/gim.2014.153 Yang XR, Rotunno M, Xiao Y et al (2016) Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. Hum Genet 135(11):1241–1249 Roberts NJ, Norris AL, Petersen GM et al (2016) Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer. Cancer Discov 6(2):166–175 Smith AL, Alirezaie N, Connor A et al (2016) Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. Cancer Lett 370(2):302–312 Takai E, Yachida S, Shimizu K et al (2016) Germline mutations in Japanese familial pancreatic cancer patients. Oncotarget 7(45):74227–74235 Lener MR, Kashyap A, Kluźniak W et al (2017) The prevalence of founder mutations among individuals from families with familial pancreatic cancer syndrome. Cancer Res Treat 49(2):430–436 Slavin TP, Neuhausen SL, Nehoray B et al (2018) The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. Fam Cancer 17(2):235–245 Chaffee KG, Oberg AL, McWilliams RR et al (2018) Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history. Genet Med 20(1):119–127 Slater EP, Langer P, Fendrich V et al (2010) Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families. Fam Cancer 9(3):335–343 Grant RC, Denroche RE, Borgida A et al (2018) Exome-wide association study of pancreatic cancer risk. Gastroenterology 154(3):719–722 Canto MI, Almario JA, Schulick RD et al (2018) Risk of neoplastic progression in individuals at high risk for pancreatic cancer undergoing long-term surveillance. Gastroenterology 155(3):740–751 Corral JE, Mareth KF, Riegert-Johnson DL et al (2018) Diagnostic yield from screening asymptomatic individuals at high risk for pancreatic cancer: a meta-analysis of cohort studies. Clin Gastroenterol Hepatol 17(1):41–53. https://doi.org/10.1016/j.cgh.2018.04.065 Brune KA, Lau B, Palmisano E et al (2010) Importance of age of onset in pancreatic cancer kindreds. J Natl Cancer Inst 102(2):119–126 Bartsch DK, Slater EP, Carrato A et al (2016) Refinement of screening for familial pancreatic cancer. Gut 65(8):1314–1321 Harinck F, Konings IC, Kluijt I et al (2016) A multicentre comparative prospective blinded analysis of EUS and MRI for screening of pancreatic cancer in high-risk individuals. Gut 65(9):1505–1513 Bartsch DK, Gercke N, Strauch K et al (2018) The combination of MiRNA-196b, LCN2, and TIMP1 is a potential set of circulating biomarkers for screening individuals at risk for familial pancreatic cancer. J Clin Med 7(10):E295. https://doi.org/10.3390/jcm7100295 Melo SA, Luecke LB, Kahlert C et al (2015) Glypican-1 identifies cancer exosomes and detects early pancreatic cancer. Nature 523(7559):177–182 Suenaga M, Yu J, Shindo K et al (2018) Pancreatic juice mutation concentrations can help predict the grade of dysplasia in patients undergoing pancreatic surveillance. Clin Cancer Res 24(12):2963–2974 Potjer TP, Mertens BJ, Nicolardi S et al (2016) Application of a serum protein signature for pancreatic cancer to separate cases from controls in a pancreatic surveillance cohort. Transl Oncol 9(3):242–247. https://doi.org/10.1016/j.tranon.2016.03.003 Potjer TP, Bartsch DK, Slater EP et al (2015) Limited resection of pancreatic cancer in high-risk patients can result in a second primary. Gut 64(8):1342–1344. https://doi.org/10.1136/gutjnl-2015-309568 Fogelman D, Sugar EA, Oliver G et al (2015) Family history as a marker of platinum sensitivity in pancreatic adenocarcinoma. Cancer Chemother Pharmacol 76(3):489–498 Kaufman B, Shapira-Frommer R, Schmutzler RK et al (2015) Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33(3):244–250