Causes, prevention, and treatment of malignant tumor secondary to congenital biliary dilatation_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

 LI Bin , QIU Zhiquan , ZHANG Jixiang , JIANG Xiaoqing

Department Ⅰ of Biliary Tract Surgery, Eastern Hepatobiliary Surgery Hospital & Second Military Medical University Biliary Tract Malignancy Treatment Centre, Secondary Military Medical University, Shanghai 200438, P. R. China;

Corresponding author：

LI Bin, Email: libinjeff@126.com

Keywords：

congenital biliary dilatation; malignant tumor

DOI：

10.7507/1007-9424.202210051

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

A complex mechanism of reduced number of bile duct innervating ganglion cells, smooth muscle distribution, foregut duplications, and abnormal pancreaticobiliary duct junction, which occurs during embryonic development and after birth in a genetic context, can lead to pathological congenital biliary dilatation. As a precancerous lesion of the biliary system, irrational treatment of congenital biliary dilatation will further increase the risk of malignancy in patients. By understanding the causes, pathological features, and limitations of early detection techniques of malignant tumor secondary to congenital biliary dilatation is helpful to clarify the key points in the management of congenital biliary dilatation, reduce the incidence of postoperative adverse treatment events and avoid the medical risk of secondary malignancy.

Citation： LI Bin, QIU Zhiquan, ZHANG Jixiang, JIANG Xiaoqing. Causes, prevention, and treatment of malignant tumor secondary to congenital biliary dilatation. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2023, 30(1): 12-17. doi: 10.7507/1007-9424.202210051 Copy

1.	Gingham J, Yoshida EM, Scudamore CH. Choledochal cysts: part 1 of 3: classification and pathogenesis. Can J Surg, 2009, 52(5): 434-440.
2.	Thakkar HS, Bradshaw C, Impey L, et al. Post-natal outcomes of antenatally diagnosed intra-abdominal cysts: a 22-year single-institution series. Pediatr Surg Int, 2015, 31(2): 187-190.
3.	Hukkinen M, Koivusalo A, Lindahl H, et al. Increasing occurrence of choledochal malformations in children: a single-center 37-year experience from Finland. Scand J Gastroenterol, 2014, 49(10): 1255-1260.
4.	Todani T, Tabuchi K, Watanabe Y, et al. Carcinoma arising in the wall of congenital bile duct cysts. Cancer, 1979, 44(3): 1134-1141.
5.	Chen W, Geng J, Tan YL, et al. Different characteristics of infants diagnosed with congenital choledochal malformation prenatally or postnatally. Sci Rep, 2021, 11(1): 20. doi: 10.1038/s41598-020-79569-4.
6.	Shimotake T, Iwai N, Yanagihara J, et al. Innervation patterns in congenital biliary dilatation. Eur J Pediatr Surg, 1995, 5(5): 265-270.
7.	Davenport M, Basu R. Under pressure: choledochal malformation manometry. J Pediatr Surg, 2005, 40(2): 331-335.
8.	Hwang HS, Kim MJ, Lee SS, et al. Smooth muscle distribution patterns of choledochal cysts and their implications for pathogenesis and postoperative complications. Am J Clin Pathol, 2020, 153(6): 760-771.
9.	Babbitt DP. Congenital choledochal cysts: new etiological concept based on anomalous relationships of the common bile duct and pancreatic bulb. Ann Radiol (Paris), 1969, 12(3): 231-240.
10.	Ludwig K, Santoro L, Ingravallo G, et al. Congenital anomalies of the gastrointestinal tract: the liver, extrahepatic biliary tree and pancreas. Pathologica, 2022, 114(1): 55-63.
11.	Mali V, Wagener S, Sharif K, et al. Foregut atresias and bile duct anomalies: rare, infrequent or common?! Pediatr Surg Int, 2007, 23(9): 889-895.
12.	Iwama T, Iwata S, Murakami S, et al. Congenital bile duct dilatation—possibly an hereditary condition. Jpn J Surg, 1985, 15(6): 501-505.
13.	Iwata F, Uchida A, Miyaki T, et al. Familial occurrence of congenital bile duct cysts. J Gastroenterol Hepatol, 1998, 13(3): 316-319.
14.	Wong JK, Campbell D, Ngo ND, et al. Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes. BMC Med Genomics, 2016, 9(1): 75. doi: 10.1186/s12920-016-0236-z.
15.	Behrns KE, Shaheen NJ, Grimm IS. Type Ⅰ choledochal cyst in association with familial adenomatous polyposis. Am J Gastroenterol, 1998, 93(8): 1377-1379.
16.	Hodgson SV, Coonar AS, Hanson PJ, et al. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli’s disease. J Med Genet, 1993, 30(5): 369-375.
17.	Djursby M, Wadt K, Frederiksen JH, et al. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families. Hered Cancer Clin Pract, 2020, 18: 8. doi: 10.1186/s13053-020-00140-3.
18.	Voyles CR, Smadja C, Shands WC, et al. Carcinoma in choledochal cysts. Age-related incidence. Arch Surg, 1983, 118(8): 986-988.
19.	Sastry AV, Abbadessa B, Wayne MG, et al. What is the incidence of biliary carcinoma in choledochal cysts, when do they develop, and how should it affect management? World J Surg, 2015, 39(2): 487-492.
20.	Ten Hove A, de Meijer VE, Hulscher JBF, et al. Meta-analysis of risk of developing malignancy in congenital choledochal malformation. Br J Surg, 2018, 105(5): 482-490.
21.	李斌, 邱智泉, 姜小清. 268例先天性胆管囊肿非合理治疗继发不良治疗后果的回顾性研究. 中华肝胆外科杂志, 2020, 26(12): 916-920.
22.	Iwai N, Yanagihara J, Tokiwa K, et al. Congenital choledochal dilatation with emphasis on pathophysiology of the biliary tract. Ann Surg, 1992, 215(1): 27-30.
23.	Kamisawa T, Kuruma S, Tabata T, et al. Pancreaticobiliary maljunction and biliary cancer. J Gastroenterol, 2015, 50(3): 273-279.
24.	Fujimoto T, Ohtsuka T, Nakashima Y, et al. Elevated bile amylase level without pancreaticobiliary maljunction is a risk factor for gallbladder carcinoma. J Hepatobiliary Pancreat Sci, 2017, 24(2): 103-108.
25.	Mihalache F, Tantau M, Diaconu B, et al. Survival and quality of life of cholangiocarcinoma patients: a prospective study over a 4 year period. J Gastrointestin Liver Dis, 2010, 19(3): 285-290.
26.	Komi N, Tamura T, Miyoshi Y, et al. Nationwide survey of cases of choledochal cyst. Analysis of coexistent anomalies, complications and surgical treatment in 645 cases. Surg Gastroenterol, 1984, 3(2): 69-73.
27.	Kamisawa T, Ando H, Shimada M, et al. Recent advances and problems in the management of pancreaticobiliary maljunction: feedback from the guidelines committee. J Hepatobiliary Pancreat Sci, 2014, 21(2): 87-92.
28.	Kamisawa T, Kuruma S, Chiba K, et al. Biliary carcinogenesis in pancreaticobiliary maljunction. J Gastroenterol, 2017, 52(2): 158-163.
29.	Aoki Y, Aida J, Kawano Y, et al. Telomere length of gallbladder epithelium is shortened in patients with congenital biliary dilatation: measurement by quantitative fluorescence in situ hybridization. J Gastroenterol, 2018, 53(2): 291-301.
30.	Schneider CV, Schneider KM, Teumer A, et al. Association of telomere length with risk of disease and mortality. JAMA Intern Med, 2022, 182(3): 291-300.
31.	Funabiki T, Matsubara T, Miyakawa S, et al. Pancreaticobiliary maljunction and carcinogenesis to biliary and pancreatic malignancy. Langenbecks Arch Surg, 2009, 394(1): 159-169.
32.	Lv Y, Xie X, Pu L, et al. Molecular characteristics of choledochal cysts in children: transcriptome sequencing. Front Genet, 2021, 12: 709340. doi: 10.3389/fonc.2022.995870.
33.	Li M, Zhang Z, Li X, et al. Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway. Nat Genet, 2014, 46(8): 872-876.
34.	Jacobi O, Ross JS, Goshen-Lago T, et al. ERBB2 pathway in biliary tract carcinoma: clinical implications of a targetable pathway. Oncol Res Treat, 2021, 44(1-2): 20-27.
35.	Sasaki M, Sato Y, Nakanuma Y. Bile duct adenoma may be a precursor lesion of small duct type intrahepatic cholangiocarcinoma. Histopathology, 2021, 78(2): 310-320.
36.	Okamura K, Hayakawa H, Kuze M, et al. Triple carcinomas of the biliary tract associated with congenital choledochal dilatation and pancreaticobiliary maljunction. J Gastroenterol, 2000, 35(6): 465-471.
37.	Sheth S, Bedford A, Chopra S. Primary gallbladder cancer: recognition of risk factors and the role of prophylactic cholecystectomy. Am J Gastroenterol, 2000, 95(6): 1402-1410.
38.	Ouaissi M, Kianmanesh R, Ragot E, et al. Congenital bile duct cyst (BDC) is a more indolent disease in children compared to adults, except for Todani type Ⅳ-A BDC: results of the European multicenter study of the French Surgical Association. HPB (Oxford), 2016, 18(6): 529-539.
39.	Kamisawa T, Okamoto A, Tsuruta K, et al. Carcinoma arising in congenital choledochal cysts. Hepatogastroenterology, 2008, 55(82-83): 329-332.
40.	中国抗癌协会. 远端胆管癌规范化诊治专家共识(2017). 中华肝胆外科杂志, 2018, 24(1): 1-8.
41.	樊代明, 李强, 姜小清. 中国肿瘤整合诊治指南—胆囊癌. 天津: 天津科学技术出版社, 2022: 959-974.
42.	Holcomb GW, Gheissari A, O’Neill JA, et al. Surgical management of alimentary tract duplications. Ann Surg, 1989, 209(2): 167-174.
43.	Todani T, Watanabe Y, Toki A, et al. Classification of congenital biliary cystic disease: special reference to type Ⅰc and ⅣA cysts with primary ductal stricture. J Hepatobiliary Pancreat Surg, 2003, 10(5): 340-344.
44.	李斌, 邱智泉, 刘辰, 等. 先天性胆管囊肿外科治疗要点及“三类五型”分型系统的临床意义. 中华肝胆外科杂志, 2021, 27(2): 86-90.
45.	李斌, 邱智泉, 刘辰, 等. 改进外科治疗策略规避Ⅰ型和Ⅳ型先天性胆管囊肿术后并发症. 中华肝胆外科杂志, 2016, 22(12): 848-851.
46.	Watanabe Y, Toki A, Todani T. Bile duct cancer developed after cyst excision for choledochal cyst. J Hepatobiliary Pancreat Surg, 1999, 6(3): 207-212.
47.	Madadi-Sanjani O, Wirth TC, Kuebler JF, et al. Choledochal cyst and malignancy: a plea for lifelong follow-up. Eur J Pediatr Surg, 2019, 29(2): 143-149.
48.	Qiu Z, Ji J, Xu Y, et al. Common DNA methylation changes in biliary tract cancers identify subtypes with different immune characteristics and clinical outcomes. BMC Med, 2022, 20(1): 64. doi: 10.1186/s12916-021-02197-w.

1. Gingham J, Yoshida EM, Scudamore CH. Choledochal cysts: part 1 of 3: classification and pathogenesis. Can J Surg, 2009, 52(5): 434-440.
2. Thakkar HS, Bradshaw C, Impey L, et al. Post-natal outcomes of antenatally diagnosed intra-abdominal cysts: a 22-year single-institution series. Pediatr Surg Int, 2015, 31(2): 187-190.
3. Hukkinen M, Koivusalo A, Lindahl H, et al. Increasing occurrence of choledochal malformations in children: a single-center 37-year experience from Finland. Scand J Gastroenterol, 2014, 49(10): 1255-1260.
4. Todani T, Tabuchi K, Watanabe Y, et al. Carcinoma arising in the wall of congenital bile duct cysts. Cancer, 1979, 44(3): 1134-1141.
5. Chen W, Geng J, Tan YL, et al. Different characteristics of infants diagnosed with congenital choledochal malformation prenatally or postnatally. Sci Rep, 2021, 11(1): 20. doi: 10.1038/s41598-020-79569-4.
6. Shimotake T, Iwai N, Yanagihara J, et al. Innervation patterns in congenital biliary dilatation. Eur J Pediatr Surg, 1995, 5(5): 265-270.
7. Davenport M, Basu R. Under pressure: choledochal malformation manometry. J Pediatr Surg, 2005, 40(2): 331-335.
8. Hwang HS, Kim MJ, Lee SS, et al. Smooth muscle distribution patterns of choledochal cysts and their implications for pathogenesis and postoperative complications. Am J Clin Pathol, 2020, 153(6): 760-771.
9. Babbitt DP. Congenital choledochal cysts: new etiological concept based on anomalous relationships of the common bile duct and pancreatic bulb. Ann Radiol (Paris), 1969, 12(3): 231-240.
10. Ludwig K, Santoro L, Ingravallo G, et al. Congenital anomalies of the gastrointestinal tract: the liver, extrahepatic biliary tree and pancreas. Pathologica, 2022, 114(1): 55-63.
11. Mali V, Wagener S, Sharif K, et al. Foregut atresias and bile duct anomalies: rare, infrequent or common?! Pediatr Surg Int, 2007, 23(9): 889-895.
12. Iwama T, Iwata S, Murakami S, et al. Congenital bile duct dilatation—possibly an hereditary condition. Jpn J Surg, 1985, 15(6): 501-505.
13. Iwata F, Uchida A, Miyaki T, et al. Familial occurrence of congenital bile duct cysts. J Gastroenterol Hepatol, 1998, 13(3): 316-319.
14. Wong JK, Campbell D, Ngo ND, et al. Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes. BMC Med Genomics, 2016, 9(1): 75. doi: 10.1186/s12920-016-0236-z.
15. Behrns KE, Shaheen NJ, Grimm IS. Type Ⅰ choledochal cyst in association with familial adenomatous polyposis. Am J Gastroenterol, 1998, 93(8): 1377-1379.
16. Hodgson SV, Coonar AS, Hanson PJ, et al. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli’s disease. J Med Genet, 1993, 30(5): 369-375.
17. Djursby M, Wadt K, Frederiksen JH, et al. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families. Hered Cancer Clin Pract, 2020, 18: 8. doi: 10.1186/s13053-020-00140-3.
18. Voyles CR, Smadja C, Shands WC, et al. Carcinoma in choledochal cysts. Age-related incidence. Arch Surg, 1983, 118(8): 986-988.
19. Sastry AV, Abbadessa B, Wayne MG, et al. What is the incidence of biliary carcinoma in choledochal cysts, when do they develop, and how should it affect management? World J Surg, 2015, 39(2): 487-492.
20. Ten Hove A, de Meijer VE, Hulscher JBF, et al. Meta-analysis of risk of developing malignancy in congenital choledochal malformation. Br J Surg, 2018, 105(5): 482-490.
21. 李斌, 邱智泉, 姜小清. 268例先天性胆管囊肿非合理治疗继发不良治疗后果的回顾性研究. 中华肝胆外科杂志, 2020, 26(12): 916-920.
22. Iwai N, Yanagihara J, Tokiwa K, et al. Congenital choledochal dilatation with emphasis on pathophysiology of the biliary tract. Ann Surg, 1992, 215(1): 27-30.
23. Kamisawa T, Kuruma S, Tabata T, et al. Pancreaticobiliary maljunction and biliary cancer. J Gastroenterol, 2015, 50(3): 273-279.
24. Fujimoto T, Ohtsuka T, Nakashima Y, et al. Elevated bile amylase level without pancreaticobiliary maljunction is a risk factor for gallbladder carcinoma. J Hepatobiliary Pancreat Sci, 2017, 24(2): 103-108.
25. Mihalache F, Tantau M, Diaconu B, et al. Survival and quality of life of cholangiocarcinoma patients: a prospective study over a 4 year period. J Gastrointestin Liver Dis, 2010, 19(3): 285-290.
26. Komi N, Tamura T, Miyoshi Y, et al. Nationwide survey of cases of choledochal cyst. Analysis of coexistent anomalies, complications and surgical treatment in 645 cases. Surg Gastroenterol, 1984, 3(2): 69-73.
27. Kamisawa T, Ando H, Shimada M, et al. Recent advances and problems in the management of pancreaticobiliary maljunction: feedback from the guidelines committee. J Hepatobiliary Pancreat Sci, 2014, 21(2): 87-92.
28. Kamisawa T, Kuruma S, Chiba K, et al. Biliary carcinogenesis in pancreaticobiliary maljunction. J Gastroenterol, 2017, 52(2): 158-163.
29. Aoki Y, Aida J, Kawano Y, et al. Telomere length of gallbladder epithelium is shortened in patients with congenital biliary dilatation: measurement by quantitative fluorescence in situ hybridization. J Gastroenterol, 2018, 53(2): 291-301.
30. Schneider CV, Schneider KM, Teumer A, et al. Association of telomere length with risk of disease and mortality. JAMA Intern Med, 2022, 182(3): 291-300.
31. Funabiki T, Matsubara T, Miyakawa S, et al. Pancreaticobiliary maljunction and carcinogenesis to biliary and pancreatic malignancy. Langenbecks Arch Surg, 2009, 394(1): 159-169.
32. Lv Y, Xie X, Pu L, et al. Molecular characteristics of choledochal cysts in children: transcriptome sequencing. Front Genet, 2021, 12: 709340. doi: 10.3389/fonc.2022.995870.
33. Li M, Zhang Z, Li X, et al. Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway. Nat Genet, 2014, 46(8): 872-876.
34. Jacobi O, Ross JS, Goshen-Lago T, et al. ERBB2 pathway in biliary tract carcinoma: clinical implications of a targetable pathway. Oncol Res Treat, 2021, 44(1-2): 20-27.
35. Sasaki M, Sato Y, Nakanuma Y. Bile duct adenoma may be a precursor lesion of small duct type intrahepatic cholangiocarcinoma. Histopathology, 2021, 78(2): 310-320.
36. Okamura K, Hayakawa H, Kuze M, et al. Triple carcinomas of the biliary tract associated with congenital choledochal dilatation and pancreaticobiliary maljunction. J Gastroenterol, 2000, 35(6): 465-471.
37. Sheth S, Bedford A, Chopra S. Primary gallbladder cancer: recognition of risk factors and the role of prophylactic cholecystectomy. Am J Gastroenterol, 2000, 95(6): 1402-1410.
38. Ouaissi M, Kianmanesh R, Ragot E, et al. Congenital bile duct cyst (BDC) is a more indolent disease in children compared to adults, except for Todani type Ⅳ-A BDC: results of the European multicenter study of the French Surgical Association. HPB (Oxford), 2016, 18(6): 529-539.
39. Kamisawa T, Okamoto A, Tsuruta K, et al. Carcinoma arising in congenital choledochal cysts. Hepatogastroenterology, 2008, 55(82-83): 329-332.
40. 中国抗癌协会. 远端胆管癌规范化诊治专家共识(2017). 中华肝胆外科杂志, 2018, 24(1): 1-8.
41. 樊代明, 李强, 姜小清. 中国肿瘤整合诊治指南—胆囊癌. 天津: 天津科学技术出版社, 2022: 959-974.
42. Holcomb GW, Gheissari A, O’Neill JA, et al. Surgical management of alimentary tract duplications. Ann Surg, 1989, 209(2): 167-174.
43. Todani T, Watanabe Y, Toki A, et al. Classification of congenital biliary cystic disease: special reference to type Ⅰc and ⅣA cysts with primary ductal stricture. J Hepatobiliary Pancreat Surg, 2003, 10(5): 340-344.
44. 李斌, 邱智泉, 刘辰, 等. 先天性胆管囊肿外科治疗要点及“三类五型”分型系统的临床意义. 中华肝胆外科杂志, 2021, 27(2): 86-90.
45. 李斌, 邱智泉, 刘辰, 等. 改进外科治疗策略规避Ⅰ型和Ⅳ型先天性胆管囊肿术后并发症. 中华肝胆外科杂志, 2016, 22(12): 848-851.
46. Watanabe Y, Toki A, Todani T. Bile duct cancer developed after cyst excision for choledochal cyst. J Hepatobiliary Pancreat Surg, 1999, 6(3): 207-212.
47. Madadi-Sanjani O, Wirth TC, Kuebler JF, et al. Choledochal cyst and malignancy: a plea for lifelong follow-up. Eur J Pediatr Surg, 2019, 29(2): 143-149.
48. Qiu Z, Ji J, Xu Y, et al. Common DNA methylation changes in biliary tract cancers identify subtypes with different immune characteristics and clinical outcomes. BMC Med, 2022, 20(1): 64. doi: 10.1186/s12916-021-02197-w.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Causes, prevention, and treatment of malignant tumor secondary to congenital biliary dilatation

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content