Jornal de Hematologia e Doenças Tromboembólicas
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Donor cell acute myeloid leukemia with del(9q) occurring 11 years after a transplant for severe aplastic anemia in a pediatric patient

Anna Maria Testi, Francesca Kaiser, Anna Paola Iori, Walter Barberi, Ursula La Rocca, Maria Luisa Moleti, Simona Bianchi, Martina Pigazzi, Barbara Buldini, Marco Mancini, Robin Foà, Fiorina Giona,

Allogeneic stem cell transplant is a successful treatment for severe aplastic anemia. Subsequent development of acute leukemia is a rare event. Cytogenetic/molecular analysis has shown that leukemia can originate in the host cells. In this report we describe a pediatric patient who developed donor cell acute myeloid leukemia with a del (9q) aberration and a CEBPA double mutation, 11 years after an unrelated allogeneic stem cell transplant for severe acquired aplastic anemia. Mechanisms involved in the pathogenesis are complex and several hypotheses have been proposed. Novel approaches, such as next generation sequencing to unravel the mechanisms of leukemogenesis in this category of patients, appear promising.