Alternative titles; symbols
DO: 0111366;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12q24.31 | Hepatic adenoma, somatic | 142330 | 3 | HNF1A | 142410 |
A number sign (#) is used with this entry because familial hepatic adenomas can occur through biallelic inactivation of the transcription factor-1 gene (TCF1, HNF1A; 142410) on chromosome 12q24. Hepatic adenomas also occur in high frequency with type I glycogen storage disease (232200).
Foster et al. (1978) observed a family in which the mother and 3 of 5 children, a son and 2 daughters, all teenaged, had liver-cell adenomas. All 4 plus several other members of the kindred had insulin-dependent maturity-onset diabetes of the young (see MODY3, 600496). Sclerocystic ovaries were present in the 2 daughters. The mother's father and paternal grandfather had histologically confirmed hepatocellular carcinoma (see 114550). The family came to attention when the 18-year-old daughter developed sudden abdominal pain and was laparotomized. The tumors were highly vascular and hemorrhage into the tumor was a probable cause of pain. The authors noted the occurrence of discrete liver-cell adenomas in type I glycogen storage disease (232200) and in patients on oral contraceptives. The liver tumors in this family may have been related in some way to a peculiar metabolic defect that led also to MODY. Nonetheless, a small chromosomal deletion or other abnormality should be sought.
Bluteau et al. (2002) found biallelic inactivation of the TCF1 gene in 10 of 16 screened adenomas and heterozygous germline mutations in 3 individuals who also had MODY3 (see, e.g., 142410.0013-142410.0014). They concluded that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma and may be an early step in the development of some hepatocellular carcinomas (114550).
Bluteau, O., Jeannot, E., Bioulac-Sage, P., Marques, J. M., Blanc, J.-F., Bui, H., Beaudoin, J.-C., Franco, D., Balabaud, C., Laurent-Puig, P., Zucman-Rossi, J. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nature Genet. 32: 312-315, 2002. [PubMed: 12355088] [Full Text: https://doi.org/10.1038/ng1001]
Foster, J. H., Donohue, T. A., Berman, M. M. Familial liver-cell adenomas and diabetes mellitus. New Eng. J. Med. 299: 239-241, 1978. [PubMed: 207987] [Full Text: https://doi.org/10.1056/NEJM197808032990508]