FaCD Online Syndrome Fact Sheet

Last updated: 13 Apr 2008

Name: Hepatic Adenoma, Familial Clustering of

Synonym: incl. Maturity-Onset Diabetes of the Young type 3, MODY3

Mode of Inheritance: AD

Genes

HNF1A, mapped to 12q24.2

Tumor features

hepatic adenomas
hepatocellular cancer (hepatoma)

Non-tumor features

diabetes mellitus

Comment

The familial occurrence of highly vascular hepatic adenomas, associated with insulin-dependent maturity-onset diabetes mellitus was reported by Foster et al.[1]. At least 4 of the family members (3 female, 1 male) in 2 successive generations had hepatic adenomas and all were diabetic; 2 of them also had sclerocystic ovaries. Two ancestors (both male) had developed hepatocellular carcinoma in a cirrhotic liver.

Bacq et al reported familial adenomatosis of the liver,maturity-onset diabetes of the young type 3 (MODY3) and germline HNF-1alpha mutations. Expression varied between relatives, not all carriers had liver adenomatosis and diabetes[2]. Reznik et al confirmed these observations and also reported fatal hemorrhage as complication of the adenomatosis[3].

References

[1] Foster JH, Donohue TA, Berman MM. Familial liver-cell adenomas and diabetes mellitus. N Engl J Med 1978; 299(5):239-241.
[2] Bacq Y, Jacquemin E, Balabaud C, Jeannot E, Scotto B, Branchereau S, Laurent C, Bourlier P, Pariente D, de Muret A, Fabre M, Bioulac-Sage P, Zucman-Rossi J. Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation. Gastroenterology 2003; 125(5):1470-5.
[3] Reznik Y, Dao T, Coutant R, Chiche L, Jeannot E, Clauin S, Rousselot P, Fabre M, Oberti F, Fatome A, Zucman-Rossi J, Bellanne-Chantelot C. Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. The Journal of clinical endocrinology and metabolism 2004; 89(3):1476-80.