title: Spontaneous evolution of essential thrombocythaemia into acute megakaryoblastic leukaemia with trisomy 8, trisomy 21 and cutaneous involvement.
abstract: Spontaneous transformation of essential thrombocythaemia (ET) into acute leukaemia is rare. We describe a case of ET that spontaneously transformed after 19 yrs uneventful follow-up into acute megakaryoblastic leukaemia. Cytogenetic analysis of bone marrow nucleated cells showed trisomy 8 and trisomy 21 at time of leukaemic transformation supporting the hypothesis that chromosomal abnormalities are part of the mechanism that drives the leukaemic progression independently of drug cytotoxicity. In addition, the very rare and intriguing finding of M7 FAB subtype evolution of ET was complicated by cutaneous involvement in the leukaemic process.
authors.affiliation: Department of Medicine, Rovigo General Hospital, Rovigo, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Paolini
authors.forename: Laura
authors.initials: L
authors.lastname: Bonaldi
authors.forename: Enzo
authors.initials: E
authors.lastname: Bianchini
authors.forename: Emilio
authors.initials: E
authors.lastname: Ramazzina
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Cella
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002471:Cell Transformation, Neoplastic; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D017809:Fatal Outcome; D006529:Hepatomegaly; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D008875:Middle Aged; D012867:Skin / Q000473:pathology*; D013163:Splenomegaly; D013920:Thrombocythemia, Essential / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D014314:Trisomy