title: Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study.
abstract: OBJECTIVE
  Glycogen storage disease type I is a metabolic disorder resulting from deficiency of the glucose-6-phosphate complex. Long-term complications include the development of hepatocellular adenoma (HCA). In this retrospective study, our aim was to reclassify according to geno-phenotypic characteristics nodular lesions identified in hepatectomy specimens of such patients transplanted between 1998 and 2008 at our institution.
  
  
  RESULTS
  Clinicopathological data of seven consecutive transplanted patients with glycogen storage disease type I were reviewed. Liver nodules were re-examined histologically and by immunohistochemistry. Molecular analysis was performed additionally in a case with specific features. Four patients had multiple tumours. We concluded that 26 of 38 nodules available for study had features of inflammatory hepatocellular adenomas, seven comprised adenomas not otherwise specified and five were found to be focal nodular hyperplasia.
  
  
  CONCLUSIONS
  Further studies are needed to clarify the pathogenesis of hepatocellular adenomas in glycogen storage disease; in particular to determine whether they share abnormal metabolic pathways with inflammatory adenomas in the general population. Testing for acute phase proteins may be a helpful tool in the early detection of HCA in such patients. Finally, there is a need to further define their risk of malignant transformation, in relation to age and possible cofactors.
authors.affiliation: Institute of Liver Studies, King's College Hospital, London, UK. stratigoula.sakellariou@nhs.net
authors.forename: Stratigoula
authors.initials: S
authors.lastname: Sakellariou
authors.forename: Hussa
authors.initials: H
authors.lastname: Al-Hussaini
authors.forename: Astrid
authors.initials: A
authors.lastname: Scalori
authors.forename: Marianne
authors.initials: M
authors.lastname: Samyn
authors.forename: Nigel
authors.initials: N
authors.lastname: Heaton
authors.forename: Bernard
authors.initials: B
authors.lastname: Portmann
authors.forename: Khalid
authors.initials: K
authors.lastname: Tobal
authors.forename: Alberto
authors.initials: A
authors.lastname: Quaglia
mesh_terms: D018248:Adenoma, Liver Cell / Q000150:complications / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D020518:Focal Nodular Hyperplasia / Q000150:complications / Q000473:pathology; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology; D008113:Liver Neoplasms / Q000150:complications / Q000473:pathology*; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult