Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Báo cáo tiến triển: Ung thư tụy gia đình
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 mớiTài 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
