Abstract

We present the case of a 28-year-old female patient with advanced myelodysplastic syndrome. Her BM examination at diagnosis showed the presence of 16% blasts and multi-lineage dysplasia, findings consistent with refractory anemia with excess blasts-2 (RAEB-2). Cytogenetic analysis revealed a deletion 5q and the rare translocation t(3;12)(q26;p13) with rearrangement of the ecotropic viral integration-1 gene (EVI1) by FISH. An allogeneic hematopoietic SCT (HSCT) was considered to be urgent due to the high-risk nature of her disease. Unfortunately, neither a family nor a matched unrelated donor was available. We therefore decided to proceed with a cord blood transplantation from a 6/6 HLA-matched donor. The unit contained a total nucleated cell dose of 3.87 × 107/kg; both donor and recipient were seronegative for CMV. The preparative regimen included fractioned TBI (12 Gy), CY (120 mg/kg) given over two days and fludarabine (75 mg/m2) in three doses. GVHD prophylaxis consisted of tacrolimus (beginning on day −3) and mycophenolate mofetil (as of day +1).

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