A large variety of mass lesions have been reported in the region of the pin
eal gland. Pineal parenchymal tumors and germ cell tumors (GCTs) are especi
ally characteristic of this region. Despite their rarity, a number of excel
lent studies on the cytogenetics and molecular genetics of pineal parenchym
al tumors and pineal region GCTs have been published. These studies draw at
tention to a number of distinct genomic regions recurrently involved in the
various subtypes of malignancies of the pineal gland. Outcomes for tumors
in this location vary widely between patients and among differing histologi
es. Development of novel therapies for patients with poor prognoses will de
pend on the acquisition of a more detailed understanding of the molecular b
asis associated with the etiopathogenesis of these neoplasms. We review the
literature on cytogenetics, familial syndromes, animal models and molecula
r genetics of pineal region neoplasms.