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C ASE R EPORT : Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose‐6‐phosphatase gene mutation in one family
Author(s) -
Nakamura Toshifumi,
Ozawa Takachika,
Kawasaki Tsunehisa,
Yasumi Kazuhiko,
Wang DongYu,
Kitagawa Mutsuo,
Takehira Yasunori,
Tamakoshi Katsutoshi,
Yamada Masami,
Kida Hideo,
Sugie Hideo,
Nakamura Hirotoshi,
Sugimura Haruhiko
Publication year - 1999
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1046/j.1440-1746.1999.01914.x
Subject(s) - medicine , hepatocellular carcinoma , germline mutation , glycogen storage disease type i , glycogen storage disease , single strand conformation polymorphism , mutation , prenatal diagnosis , gene mutation , disease , gastroenterology , family history , pathology , gene , genetics , pregnancy , biology , fetus
A 40‐year‐old man with glycogen storage disease type 1a (von Gierke disease, GSD1a) developed hepatocellular carcinoma (HCC). Cold single‐strand conformation polymorphism (SSCP) with 12% glycerol identified the G727T mutation in the glucose‐6‐phosphatase ( G6Pase ) gene, which has been reported to be the most common mutation in Japanese GSD1a patients. This case report is the first documentation of HCC in a case with G727T mutation. Given the prevalence of HCC in GSD1a with various germline mutations, analysis is needed to confirm that the germline mutation in this case is really related to hepatocarcinogenesis. DNA analysis of the family pedigree of this case, revealed three individuals with GSD1a and seven heterozygous carriers of the G727T mutation. As the diagnosis of GSD1a in this family was made only after these three patients reached adulthood, DNA diagnosis may help early identification of GSD1a patients and prevention of the progression of the disease. This DNA‐based diagnosis permits prenatal diagnosis in at‐risk patients and may facilitate screening and counselling of patients clinically suspected of having this disease. © 1999 Blackwell Science Asia Pty Ltd