We report on two children (8 and 6 years old) suffering from the inborn glycogen storage disease type I (G-6-PD). The former developed focal nodular hyperplasia (FNH), the latter a solitary large mass, surgically excised, corresponding to a liver cell adenoma. Within the nonnodular tissue in both cases, the histology revealed features consis-tent with glycogenosis type I. Biochemical determination revealed a G-6-P content of 0-0.02 U/g (n.v. = 2-10 U/g). FNH tissue revealed histology and absence of CJ-6-P similar to those of the nonnodular tissue. In contrast, adenoma displayed a different cytological and histological appearance. Surprisingly (i-6-P was found within tumor cells (0.9-1.8 U/g). This finding is relevant in view of a recent observation in our group, referring to a normal (non-G-6-PD) adult male who developed an HCC. HCC cells displayed light and electron microscopic features of glycogenosis type I. Moreover, an absolute deficiency of the enzyme was found within the tumor (0 U/g) in contrast to the surrounding normal liver (3.84 U/g). This study shows that during neoplastic transformation profound DNA alterations occur: cancer itself (but not hyperplasia) may "correct" genetic defects as well as lead to acquired enzyme deficiency quite analogous to the inborn type.
|Number of pages||2|
|Journal||Pediatric Pathology and Laboratory Medicine|
|Publication status||Published - 1996|
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Pediatrics, Perinatology, and Child Health