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Concurrent acute megakaryoblastic leukaemia and mediastinal germ cell tumour - case report and literature review

Publication at Second Faculty of Medicine |


The occurrence of haematological malignancies associated with germ cell tumours was described for the first time in literature in 1985. Since then, more than 60 cases have been published, mostly involving mediastinal germ cell tumour and acute megakaryoblastic leukaemia.

Germ cell tumours as well as acute megakaryoblastic leukaemias are rare neoplasms characterized by poor prognosis when concurrent, with a dismal median survival of 6 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.

Our case report presents a rare case of concurrent mediastinal germ cell tumour and acute megakaryoblastic leukaemia treated at our centre as well as a review of literature focusing on molecular changes in these neoplasms.