The genotypic features of mature ovarian teratomas (MOTs) are controversial
. Early studies detected a homozygous genotype in MOTs suggesting that thes
e tumors are composed of germ cells that have undergone meiosis I. Other st
udies, however, revealed a heterozygous genotype in a substantial proportio
n of MOTs suggesting an origin either from premeiotic germ cells or from a
somatic cell line. In view of the complex morphology of MOTs and to increas
e the sensitivity of teratoma genotyping, we applied tissue microdissection
before genetic analysis of teratomatous tissue. This approach allowed sele
ctive analysis of different heterotopic tissue elements as well as the lymp
hoid tissues within MOTs the origin of which is unknown. After DNA extracti
on, the tissue samples were polymerase chain reaction amplified using a ran
dom panel of highly informative genetic markers for different chromosomes t
o evaluate heterozygosity versus homozygosity, In all seven cases that were
analyzed, heterotopic tissues consistently revealed a homozygous genotype
with several markers; in two cases, heterozygosity was detected with a sing
le marker, indicating a meiotic recombination event. Lymphoid aggregates wi
thin MOTs were heterozygous and derived from host tissue rather than from t
eratomatous growth. However, well differentiated thymic tissue was consiste
ntly homozygous, suggesting lymphoid differentiation capability of MOTs, We
conclude that potential pitfalls in genotyping of teratomas including meio
tic recombination and host cell participation can be avoided by a microdiss
ection-based approach in combination with a panel of genetic markers.