Non-tumoral elevation of alpha-fetoprotein (AFP): a 10 year follow-up in two subjects

Elevation of serum alpha-fetoprotein (AFP) in the absence of any liver disease or malignancy, likely of genetic origin, is an uncommon observation which may be the source of diagnostic difficulties in routine clinical practice, especially in cases without available familial data. Animal studies suggest that the anomaly may be related to a mutation located in a regulatory gene different from that mapped for AFP. The transmission pattern of the defect is unknown with a strong suggestion for an autosomal dominant inheritance. We report the cases of two patients in whom a stable elevation of unknown origin of the tumoral marker for up to 10 years, has been observed in the absence of any detectable liver and/or malignancy and in whom the lack of familial data was the source of diagnostic difficulties.