Testicular germ cell tumors (TCGT) comprise a heterogeneous group of neoplasms, although all of them are originated from common precursors related to germ cell lineage. Understanding of normal development of germinal cells is essential to define new markers for diagnosis, prognostic subgroups and targeted therapies. Recent advances related to cytogenetic and molecular features have established the role of immunohistochemistry of c-kit, OCT-3/4 and determination of gain of chromosome 12 in the daily workup of premalignant lesions and invasive tumors. This review summarizes the current knowledge in the field of molecular biology of TGCT.