Rapid Determination of α-Fetoprotein Gene Promoter Mutations in Hereditary Persistence of α-Fetoprotein

Hereditary persistence of α-fetoprotein (HPAFP) is an autosomal inherited disorder in which AFP is persistent in adult life. Since the description of the first case in 1983 (1), this clinically benign disorder has been reported in 11 unrelated families [Ref. (2) and references therein]. The molecular mechanism has been identified in four unrelated families (2)(3)(4). It has been related to a −119G>A substitution in the distal hepatocyte nuclear factor-1 binding site of the AFP gene promoter in three families (2)(3)(4) and to a −55C>A substitution in the proximal hepatocyte nuclear factor-1 binding site of the AFP gene promoter in one (2). AFP is a widely used tumor marker. Although HPAFP is a rare disorder, it needs to be considered and differentiated from tumors to avoid inappropriate explorations and treatment decisions. We present a simple test based …