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Demetilating agents, such as Decitabine and Azacitidine (Aza), have been reported as effective salvage therapy for relapsed acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) [1,2]. There is evidence that treatment with demetilating agents may prime the donor lymphocyte infusion (DLI) by enhancing the graftversus leukemia effect (GvL) in patients who relapse after allogeneic hematopoietic stem cell transplantation (HSCT) [3]. Herein, we report the case of a 40-year-old woman who had previously donated hematopoietic stem cells for her sister, diagnosed with MDS/AML twenty years before; the patient’s sister experienced clinical recurrence of AML 18 years after HSCT, in presence of a full-donor chimerism on bone marrow (investigated by microsatellite analyses). This finding led us to investigate the donor, which showed leukopenia and macrocitic anemia of new onset. The morphologic examination (March, 2005) of the donor’s bone marrow showed a 15% infiltrate of immature myeloid precursors (immunophenotyping: 52% of the cells CD13+, 53% CD33+, 17% CD34+, 16% CD33/CD34+, 1% CD14+, 51% CD3+ and 65% CD5+). The search for recurrent MDS/AML mutations by polymerase chain reaction and conventional cytogenetic analysis were both negative. The patient was diagnosed with myelodysplastic syndrome (MDS) RAEB-2, IPSS score high (2.5). The patient’s sister was thus diagnosed with donor-derived MDS/AML and received a course of re-induction chemotherapy followed by second HSCT from a matched unrelated donor (see also) [4], but she died due to relapse three months after the second HSCT. Her sister, the donor of the first transplant, was strictly followed-up; during the following six months, the blast number increased to 25%, and we decided to administer to her eight courses of subcutaneous Aza (day 1-6 100 mg/die) as induction therapy. A bone marrow aspiration in January 2006, showed a partial response (7% of blasts). Given the young age, the high-risk MDS, and the absence of other medical conditions, the patient was candidate for receiving allogeneic hematopoietic stem transplantation.

journal of translational science

Recurrence of a 30-years old leukemic clone ten years after allogeneic transplant: Azacitidine and donor lymphocyte infusion are an effective strategy to restore the graft-versus leukemia effect