Elucidation of genomic pathology of a patient with concurrent acute myeloid leukemia and mediastinal germ cell tumor

The occurrence of a mediastinal germ cell tumor (GCT) and hematological malignancy in the same patient is very rare. Whole exome sequencing was performed for concurrent acute myeloid leukemia (acute megakaryoblastic leukemia) and mediastinal germ cell tumor. Somatic mutations, such as TP53 or PTEN, were commonly identified in both acute myeloid leukemia and mediastinal germ cell tumor, suggesting the common founder clone. Normal buccal cells were used as a control. Illumina NextSeq 500 platform were used.

• Type: Exome Sequencing
• Archiver: Japanese Genotype-phenotype Archive (JGA)