Hepatocellular Carcinoma Following Neonatal Hepatitis

Moore, Lynette; Bourne, Anthony J.; Moore, David; Preston, H.; Byard, Roger W.

doi:10.3109/15513819709168737

Cited by 2 publications

(5 citation statements)

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“…39 This, however, fails to account for the dearth of HCC in other cholestatic and hypercholanemic disorders of infancy such as extrahepatic biliary atresia. 13 It is also possible that TTI provides an analogy. In TTI, a wide range of mutations in fumarylacetoacetate hydrolase can result in inhibition of DNA ligase 1 by succinylacetone, leading to accumulation of genetic injury.…”

Section: Discussionmentioning

confidence: 99%

“…In a search of published instances of HCC in early childhood and in a review of materials at five pediatric hepatology centers, we identified 11 children, 3 of whom had been subjects of the case reports cited above, 13,[16][17][18][19][20] in whom "neonatal hepatitis" and persistent cholestasis were associated with development of HCC at less than 52 months of age and from whom (and whose families) archival materials or blood samples were available for study. Archival materials for 2 other similar children 25,26 were sought but were unavailable (T. Higgins and S. Falkmer, personal communications).…”

Section: Discussionmentioning

confidence: 99%

“…13,[16][17][18][19][20]25,26 Two such children had one sibling with fatal intrahepatic cholestasis, [16][17][18][19]26 and another had 3 siblings with intrahepatic cholestasis, one of whom died from HCC in adolescence. 20 HCC also has been described in older children or children of unstated age, adolescents, or young adults with "neonatal hepatitis", familial cholestatic cirrhosis of childhood, Byler disease, or PFIC.…”

Section: Discussionmentioning

confidence: 99%

“…Three of the children had been subjects of previous reports (patients B, F, and K). 13,[16][17][18][19][20] Each patient exhibited conjugated hyperbilirubinemia without biliary tract obstruction in infancy. Liver biopsy in 9 patients revealed "neonatal hepatitis"; in 2 patients, each of whom had 3 affected siblings with biopsy-documented "neonatal hepatitis," the parents refused biopsy.…”

Section: Patientsmentioning

confidence: 99%

“…1,12 Hepatocellular carcinoma (HCC) is rare in children. 13 We identified 11 unrelated children with clinically diagnosed PFIC in whom HCC was diagnosed between the ages of 13 and 52 months. In 10 of these children, BSEP deficiency was demonstrated immunohistochemically and mutation in ABCB11 was demonstrated via molecular analysis using materials from the children or their family members.…”

mentioning

confidence: 99%

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

et al. 2006

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Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)-or "neonatal hepatitis" suggesting PFIC-that was associated with HCC in young children. We studied 11 cases of pediatric HCC in the setting of PFIC or "neonatal hepatitis" suggesting PFIC. Archival liver were retrieved and immunostained for BSEP. Mutational analysis of ABCB11 was performed in leukocyte DNA from available patients and parents. Among the 11 nonrelated children studied aged 13-52 months at diagnosis of HCC, 9 (and a full sibling, with neonatal hepatitis suggesting PFIC, of a tenth from whom liver was not available) had immunohistochemical evidence of BSEP deficiency; the eleventh child did not. Mutations in ABCB11 were demonstrated in all patients with BSEP deficiency in whom leukocyte DNA could be studied (n ‫؍‬ 7). These mutations were confirmed in the parents (n ‫؍‬ 14). With respect to the other 3 children with BSEP deficiency, mutations in ABCB11 were demonstrated in all 5 parents in whom leukocyte DNA could be studied. Thirteen different mutations were found. In conclusion, PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11.

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Section: Discussionmentioning

confidence: 99%