Management of Large Hepatocellular Carcinoma in Adult Patients with Alagille Syndrome: A Case Report and Review of Literature

Tsai, Susan; Gürakar, Ahmet; Anders, Robert A.; Lam-Himlin, Dora; Boitnott, John K.; Pawlik, Timothy M.

doi:10.1007/s10620-009-1123-7

Cited by 28 publications

(22 citation statements)

References 24 publications

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“…We found three duplications of the FLCN gene, mutations of which cause Birt–Hogg–Dubé syndrome4 and three deletions of the NF1 gene, mutations of which cause neurofibromatosis type 1 5. In addition, we found two duplications of each of TP53 (causing Li–Fraumeni syndrome6) and JAG1 (causing Alagille syndrome7), two deletions involving the NSD1 gene (causing Sotos syndrome8) and one deletion and one partial duplication of the PTCH gene (associated with Gorlin syndrome9). Single cases of imbalance for other genes were found, as outlined in table 2.…”

Section: Resultsmentioning

confidence: 92%

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Pichert

Mohammed

Ahn

et al. 2011

Journal of Medical Genetics

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This new technology raises the possibility of unexpected findings in cancer predisposition genes. Therefore, the possibility of such findings has to be addressed in pre-test and post-test counselling by genetically trained healthcare professionals. As many of these findings have not been described previously, their clinical significance is unknown and patients need long-term follow-up to determine their clinical relevance. This will enable genetic healthcare professionals to advise such people about their cancer risks and appropriate cancer risk management options.

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Section: Resultsmentioning

confidence: 92%

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Pichert

Mohammed

Ahn

et al. 2011

Journal of Medical Genetics

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“…357,391,393 Hepatocellular carcinoma has been reported in children and adults with Alagille syndrome. [402][403][404][405][406] Although rare, hepatic malignancy may occur in infants with Alagille syndrome.…”

Section: Paucity Of the Intrahepatic Bile Ductsmentioning

confidence: 99%

Developmental abnormalities and liver disease in childhood

Portmann¹,

Roberts²

2012

MacSween's Pathology of the Liver

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“…215,247,249 Hepatocellular carcinoma has been reported in children and adults with ALGS. [258][259][260][261] Although rare, hepatic malignancy may occur in ALGS infants.…”

Section: Paucity Of Intrahepatic Bile Ductsmentioning

confidence: 99%

Developmental and Inherited Liver Disease

Quaglia¹,

Roberts²,

Torbenson³

2018

Macsween's Pathology of the Liver

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Diagnostic approach to histology 113 Neonatal and early infantile liver disease 113 Postneonatal, childhood and adulthood presentation 118 Neonatal hepatitis 119 Histopathological features 120 Biliary atresia 121 Classification and aetiopathogenesis 121 Pathological features at surgical intervention 124 Pathology of intrahepatic changes 126 Paucity of intrahepatic bile ducts 129 Alagille syndrome (arteriohepatic dysplasia) 129 Nonsyndromic duct paucity disorders 131 Bile duct anomalies, congenital dilations and ductal plate malformation disorders 131 Choledochal cyst 132 Hereditary fibropolycystic disease (ductal plate malformation) 133 Cystic fibrosis 141 Hereditary disorders of bile acid synthesis and bilirubin metabolism 143 Primary disorders of bile acid synthesis 143 Disorders of bile canalicular transporters 146 Other diseases causing intrahepatic cholestasis 150 Hereditary defects of bilirubin metabolism 151 Disorders of porphyrin metabolism 153 Porphyria cutanea tarda 154 Erythropoietic protoporphyria 155 Disorders of carbohydrate metabolism and related conditions 156 Glycogen storage diseases (glycogenoses) 156 Myoclonus epilepsy, Lafora type (Lafora disease) 161 Galactosaemia Hereditary fructose intolerance Disorders of glycoprotein and glycolipid metabolism Mucopolysaccharidoses Aspartylglucosaminuria α-Mannosidosis Fucosidosis Mucolipidoses Congenital disorders of glycosylation (carbohydrate-deficient glycoprotein syndrome) Endoplasmic reticulum storage diseases α1-Antitrypsin deficiency α1-Antichymotrypsin deficiency Afibrinogenaemia and hypofibrinogenaemia Antithrombin III deficiency Disorders of amino acid metabolism Hereditary tyrosinaemia type 1 Congenital hyperammonaemia syndromes and urea cycle disorders Cystinosis Homocystinuria (cystathionine β-synthase deficiency) Disorders of lipoprotein and lipid metabolism Abetalipoproteinaemia Familial hypobetalipoproteinaemia Familial high-density lipoprotein deficiency (Tangier disease) Familial hypercholesterolaemia Wolman disease and cholesteryl ester storage disease Gangliosidoses α-Galactosidase A deficiency (Fabry disease) Sulphatide lipidosis (metachromatic leucodystrophy) Chapter 3 Developmental and Inherited Liver Disease

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Management of Large Hepatocellular Carcinoma in Adult Patients with Alagille Syndrome: A Case Report and Review of Literature

Cited by 28 publications

References 24 publications

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Developmental abnormalities and liver disease in childhood

Developmental and Inherited Liver Disease

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