gonadal yolk sac tumors

Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors.

As in adult germ cell tumors, all pediatric gonadal yolk sac tumors had an increased incidence of numerical chromosome aberrations. All tumors showed an overrepresentation of at least three chromosomes.

Gains of chromosome 12, which is highly specific in adult germ cell tumors, are also diagnosed in six pediatric gonadal yolk sac tumors.

The short arm of chromosome 1 in adult germ cell tumors is often involved in structural aberrations. In pediatric germ cell tumors, the short arm of chromosome 1 is also a nonrandom site of structural aberrations.

Moreover, the presence of a deletion at 1p36.3 in many germ cell tumors suggests that the loss of gene(s) in this region is an important event in the pathogenesis of gonadal yolk sac tumors of childhood.

Cytogenetics

 i(12p) in adults and in children (8522320)

References

 Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood. Jenderny J, Köster E, Meyer A, Borchers O, Grote W, Harms D, Jänig U. Hum Genet. 1995 Dec;96(6):644-50. PMID: 8522320