Concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor: case report and literature review

Acute megykaryoblastic leukemia and mediastinal germ cell tumor

Abstract

The occurrence of hematological malignancies associated with germ cell tumors was described for the first time in literature in 1985. Since then more than 60 cases were published, in most cases the involved tumors were mediastinal germ cell tumor and acute megakaryoblastic leukemia. Germ cell tumors as well as acute megakaryoblastic leukemias are rare neoplasms both of which are characterized by poor prognosis when concurrent with a dismal median survival being six months from the date of diagnosis. Recent data suggest a clonal relationship between these two neoplasms when occurring concurrently due to the common presence of isochromosome 12p and mutations of TP53, NRAS and PTEN in both units. Our case report presents a rare case of concurrent mediastinal germ cell tumor and acute megakaryoblastic leukemia treated at our center with review of literature focusing on molecular changes in these neoplasms.