Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

Hepatology

Volumn 44, Issue 2, 2006, Pages 478-486

  Knisely, A S ^a   Strautnieks, Sandra S ^b   Meier, Yvonne ^c   Stieger, Bruno ^c   Byrne, Jane A ^b   Portmann, Bernard C ^a   Bull, Laura N ^d   Pawlikowska, Ludmila ^d   Bilezikçi, Banu ^e   Özçay, Figen ^e   László, Aranka ^f   Tiszlavicz, László ^g   Moore, Lynette ^h   Raftos, Jeremy ^h   Arnell, Henrik ⁱ   Fischler, Björn ⁱ   Németh, Antal ⁱ   Papadogiannakis, Nikos ⁱ   Cielecka Kuszyk, Joanna ^j   Jankowska, Irena ^j   Pawłowska, Joanna ^j   Melín Aldana, Hector ^k   Emerick, Karan M ^k   Whitington, Peter F ^k   Mieli Vergani, Giorgina ^b   Thompson, Richard J ^b   more..

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e BASKENT UNIVERSITY   (Turkey)

^f UNIVERSITY OF SZEGED   (Hungary)

^g UNIVERSITY OF SZEGED   (Hungary)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^k NORTHWESTERN UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; BILE SALT; MICROSATELLITE DNA;

ABCB11 GENE; ARTICLE; CARCINOGENESIS; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNIC DIFFERENCE; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE; GENE LOCUS; GENE MUTATION; GENETIC CODE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; INFANT; INTRAHEPATIC BILE DUCT; INTRAHEPATIC CHOLESTASIS; LEUKOCYTE; LIVER CELL CARCINOMA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN HEPATITIS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RNA SPLICING;

ATP-BINDING CASSETTE TRANSPORTERS; BIOPSY; CARCINOMA, HEPATOCELLULAR; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA, NEOPLASM; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; LIVER NEOPLASMS; MALE; MUTATION; PROGNOSIS;

EID: 33747032310     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.21287     Document Type: Article

References (46)

1. Knisely AS. Hepatocellular and familial cholestasis. In: Russo P, Ruchelli E, Piccoli DA, eds. Pathology of Pediatric Gastrointestinal and Liver Disease. New York: Springer, 2004:237-250.
2. Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988;95:130-136.
3. Emond JC, Whitington PF. Surgical management of progressive familial intrahepatic cholestasis. J Pediatr Surg 1995;30:1635-1641.
4. Hollands CM, Rivera-Pedrogo FJ, Gonzalez-Vallina R, Loret-de-Mola O, Nahmad M, Burnweit CA. Heal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg 1998;33:220-224.
5. Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-223.
6. Klomp LWJ, Vargas J, van Mil SWC, Pawlikowska L, Strautnieks SS, van Eijk MJT, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. HEPATOLOGY 2004;40:27-38.
7. Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, de Waart RD, et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. HEPATOLOGY 2006;44:195-204.
8. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-238.
9. Jansen PLM, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999;117:1370-1379.
10. Byrne JA, Strautnieks SS, Mieli-Vergani G, Higgins CF, Linton KJ, Thompson RJ. The human bile salt export pump: characterization of substrate specificity and identification of inhibitors. Gastroenterology 2002; 123:1649-1658.
11. Noé J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002;123:1659-1666.
12. Bull LN, Carlton VEH, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, et al. Genetic and morphologic findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. HEPATOLOGY 1997;26:155-164.
13. Moore L, Bourne AJ, Moore DJ, Preston H, Byard RW. Hepatocellular carcinoma following neonatal hepatitis. Pediatr Pathol Lab Med 1997;17: 601-610.
14. Dhawan A, Mitry RR, Hughes RD, Lehec S, Terry C, Bansal S, et al. Hepatocyte transplantation for inherited factor VII deficiency. Transplantation 2004;78:1812-1814.
15. Schlaeger R, Haux P, Kattermann R. Studies on the mechanism of the increase in serum alkaline phosphatase activity in cholestasis: significance of the hepatic bile acid concentration for the leakage of alkaline phosphatase from rat liver. Enzyme 1982;28:3-13.
16. Sándor T. Csecsemokori óriássejtes hepatitis talaján kialakult májcirrhosis és elsodleges májrák. Orv Hetil 1971;112:498-500.
17. Sándor T. Auf dem Boden einer Riesenzellenhepatitis im Säuglingsalter entstandene Leberzirrhose und primärer Leberkrebs. Zentralbl Allg Pathol 1972;115:417-422.
18. Sándor T, Surinya M, Mónus Z. A csecsemokori óriássejtes hepatitis familiaris elofordulása. Orv Hetil 1975;116:749-751.
19. Sándor T, Surinya M, Mónus Z. Familial occurrence of giant cell hepatitis in infancy. Acta Hepatogastroenterol (Stuttg) 1976;23:101-104.
20. Ugarte N, Gonzalez-Crussi F. Hepatoma in siblings with progressive familial cholestatic cirrhosis of childhood. Am J Clin Pathol 1981;76:172-177.
21. Noé J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J Hepatol 2005;43: 536-543.
22. Torbenson M, Kannangai R, Abraham S, Sahin F, Choti M, Wang J. Concurrent evaluation of p53, β-catenin, and α-fetoprotein expression in human hepatocellular carcinoma. Am J Clin Pathol 2004;122:377-382.
23. +/taurocholate cotransporting polypeptide in rat liver. Gastroenterology 1994;107:1781-1787.
24. Leabman MK, Huang CC, DeYoung J, Carlson EJ, Taylor TR, de la Cruz M, et al. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A 2003; 100:5896-5901.
25. Roth D, Duncan PA. Primary carcinoma of the liver after giant cell hepatitis of infancy: report of a case. Cancer 1955;8:986-991.
26. Fajers CM, Falkmer S, Frisell E, Pehrson M. Primary carcinoma of the liver and giant-cell hepatitis in infancy. Acta Paediatr 1960;49:96-110.
27. Dahms BB. Hepatoma in familial cholestatic cirrhosis of childhood: its occurrence in twin brothers. Arch Pathol Lab Med 1979;103:30-33.
28. Quillin SP, Brink JA. Hepatoma complicating Byler disease. AJR Am J Roentgenol 1992;159:432-433.
29. Esquivel CO, Gutierrez C, Cox KL, Garcia-Kennedy R, Berquist W, Concepcion W. Hepatocellular carcinoma and liver cell dysplasia in children with chronic liver disease. J Pediatr Surg 1994;29:1465-1469.
30. Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:128-133.
31. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134-141.
32. Yu SB, Kim HY, Eo H, Won JK, Jung SE, Park KW, et al. Clinical characteristics and prognosis of pediatric hepatocellular carcinoma. World J Surg 2006;30:43-50.
33. Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest 2002; 110:965-972.
34. Plass JR, Mol O, Heegsma J, Geuken M, de Bruin J, Elling G, et al. A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump. J Hepatol 2004;40:24-30.
35. Hayashi H, Takada T, Suzuki H, Akita H, Sugiyama Y. Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. HEPATOLOGY 2005;41:916-924.
36. van Mil SWC, van der Woord WL, van der Brugge G, Sturm E, Jansen PLM, Bull LN, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004;127:379-384.
37. Knisely AS, Portmann BC. Deficiency of BSEP in PFIC with hepatocellular malignancy [Letter]. Pediatr Transpl 2006;10:644-645.
38. Finegold MJ, Strautnieks SS, Thompson RJ, Cole JB. Cholangiocarcinoma in BSEP disease [Abstract]. HEPATOLOGY 2001;34:420A.
39. Bernstein H, Bernstein C, Payne CM, Dvorakova K, Garewal H. Bile acids as carcinogens in human gastrointestinal cancers. Mut Res 2005;589:47-65.
40. Prieto-Alamo MJ, Laval F. Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proc Natl Acad Sci U S A 1998;95:12614-12618.
41. Holme E, Lindstedt S. Tyrosinaemia type I and NTBC (2-(2-nitro-4- trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inher Metab Dis 1998; 21:507-517.
42. Jaffe R. Liver transplant pathology in pediatric metabolic disorders. Pediatr Dev Pathol 1998;1:102-117.
43. Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976;88:434-438.
44. Perez-Cerda C, Merinero B, Sanz P, Castro M, Gangoiti J, Garcia MJ, et al. Liver transplantation in nine Spanish patients with tyrosinaemia type I. J Inher Metab Dis 1995;18:119-122.
45. Dionisi-Vici C, Boglino C, Marcellini M, De Sio L, Inserra A, Cotugno G, et al. Tyrosinemia type I with early metastatic hepatocellular carcinoma: combined treatment with NTBC, chemotherapy and surgical mass removal [Abstract]. J Inher Metab Dis 1997;20(Suppl 1):15.
46. Cutillo L, Najimi M, Smets F, Janssen M, Reding R, de Ville de Goyet J, et al. Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transpl 2006;10:570-574.