Exome sequencing of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma

Teratoma is a germ cell tumor that may undergo in very rare case melanocytic neuroectodermic tumor (MNT) transformation. However, few information is available on molecular features that are involved in this differentiation. Here we report a 26 years-old man with a primary mediastinal mature teratoma associated with a MNT component who,10 years later, additionally presented a vertebral metastasis corresponding to an anaplastic MNT. By multi-region exome sequencing of the mature thymic teratoma, the MNT and its metastatic vertebral anaplastic MNT components.