The genetic origin of 24 trophoblastic neoplasms was determined using
PCR polymorphisms. Based on pregnancy history, these tumors included n
ine postmolar trophoblastic tumors, 12 tumors preceded by live birth o
r abortion, and three nongestational tumors. Androgenetic origin was d
efined in eight postmolar trophoblastic tumors, and the remaining one
might have arisen from a normal fertilization. Six tumors retained gen
etic features carried by the homozygous complete mole. Two tumors show
ed PCR polymorphism compatible with that of the heterozygous complete
mole. All 12 tumors in the second class had alleles of both paternal a
nd maternal contribution. However, discordance of sex between the ante
cedent pregnancy product and the tumor was recognized in three chorioc
arcinomas. The absence of paternal contribution suggested a parthenoge
netic origin of three nongestational choriocarcinomas. The findings th
at PCR polymorphisms were either homozygous in certain loci or heteroz
ygous in others may mean that the tumor was derived from a germ cell a
fter meiosis I. As a result, at least three subtypes with different mo
des of origin were demonstrated in the 24 trophoblastic tumors. These
findings underscore the importance of precise genetic marker analyses
in a large series to clearly identify clinical and biologic characteri
stics of each subset of tumors.