Rare hematologic neoplasms an acute megakaryocytic leukemia case report

Acute megakaryoblastic leukemia (AMKL) is a rare disorder in adults, particularly challenging due to difficulties in diagnosis, its complex genetic abnormalities and severe prognostic. A high percentage of AMKL cases bear cytogenetic abnormalities and, among them, 70-80% show complex karyotypes. We report on a 46 year-old male patient diagnosed with AMKL, after an initial evolution as acute lymphoblastic leukemia Burkitt-like. Highly complex chromosomal abnormalities were revealed by cytogenetic and molecular techniques (FISH), reflecting the underlying genetic instability. Our report emphasize the importance of both cellular and molecular approaches in onco-hematology, in order to accurately identify and refine genetic aberrations. As a consequence, better diagnosis and prognosis assessment is achieved, as well as understanding of pathogenic mechanisms.