Glycogen storage disease I and hepatocellular tumours.
From 50 published cases of hepatocellular adenoma (HCA) in glycogen storage disease, type I (GSD I) some characteristic features may be deduced: 1. The male:female ratio was 2:1. This sharply contrasts to HCA of other origin which shows a strong female preponderance. 2. The histology of adenomas largely corresponded to other adenomas, except for the appearance of Mallory bodies, accompanied by neutrophilic inflammation and a peculiar lamellar fibrosis. This observation is of particular interest because Mallory bodies have so far not been described in adenomas but are a well established feature in hepatocellular carcinoma of any aetiology. 3. Adenomas had a tendency to regress after continuous nocturnal intragastric feeding, although not all cases responded favourably. 4. Ten cases of hepatocellular carcinoma (HCC) are recorded in GSD I in literature, whereby in half of them transition from HCA into HCC seems likely. 5. The similarity in clinical presentation and evolution with oestrogen-induced tumours is striking. Pathogenesis of adenoma formation in GSD I is not understood. Experimental evidence and the clinical observation of regression after correction of the metabolic imbalance suggest three possible candidate mechanisms: (1) a glucagon/insulin imbalance; (2) cellular glycogen overload; and (3) proto-oncogene activation. Evidence in favour of these three mechanisms from experimental studies and observations in humans are briefly reviewed.
Department of Pathology, University of Basel, Switzerland.
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D000293:Adolescent; D000328:Adult; D000367:Age Factors; D006528:Carcinoma, Hepatocellular / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D015994:Incidence; D008113:Liver Neoplasms / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D008297:Male; D000090063:Proto-Oncogene Mas; D012737:Sex Factors