Keiichi Akizuki, Takuro Kameda, Kotaro Shide, Kazuya Shimoda*
Concurrent mediastinal Germ Cell Tumors (mGCTs) and hematological malignancies in the same patient have been reported in 2-3% of extragonadal GCT cases. In most cases, the involved GCTs are non-seminomatous and mediastinal, while the Hematological Malignancies (HMs) are often acute megakaryoblastic leukemia. Isochromosome 12p has been frequently detected in both tumors. Recently, two cases of concurrent mGCT and acute myeloid leukemia harboring TP53 and PTEN mutations were reported. We published our research article about the case of a 37-years old male patient with concurrent GCT and acute megakaryoblastic leukemia. Similar to previous studies, TP53 and PTEN mutations were shared in both tumors, in addition to the other seven shared mutations. This suggests that the concurrent occurrence of GCTs and HMs are associated with a common founding clone with a characteristic coexistence of TP53 and PTEN mutations.