Open Access Case report

Molecular monitoring of minimal residual disease in two patients with MLL-rearranged acute myeloid leukemia and haploidentical transplantation after relapse

Thomas Burmeister1*, Mara Molkentin1, Claus Meyer2, Nils Lachmann3, Stefan Schwartz1, Birte Friedrichs1, Jörg Beyer4, Igor Wolfgang Blau1, Gunnar Lohm5, Carola Tietze-Bürger6, Rolf Marschalek27 and Lutz Uharek6

Author Affiliations

1 Klinik für Hämatologie, Charité CBF, Hindenburgdamm 30, 12200, Berlin, Germany

2 Diagnostikzentrum für akute Leukämie (DCAL), Zentrum für Kinder- und Jugendmedizin, Goethe-Universität, Theodor Stern Kai 7, 60590, Frankfurt, Germany

3 Labor für Gewebetypisierung/HLA-Labor, Charité CVK, Augustenburger Platz 1, 13353, Berlin, Germany

4 Vivantes Klinik Am Urban, Klinik für Hämatologie, Dieffenbachstraße 1, 10967, Berlin, Germany

5 Klinik für Radioonkologie und Strahlentherapie, Charité CBF, Hindenburgdamm 30, 12200, Berlin, Germany

6 Stem Cell Facility, Charité CBF, Hindenburgdamm 30, 12200, Berlin, Germany

7 Institut für Pharmazeutische Biologie, Biocenter, Goethe-Universität, Marie-Curie-Str. 9, 60439, Frankfurt, Germany

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Experimental Hematology & Oncology 2012, 1:6  doi:10.1186/2162-3619-1-6

Published: 18 April 2012


This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion. They achieved a clinical remission under conventional chemotherapy but relapsed shortly after end of therapy. Both had a history of invasive mycoses (one had possible pulmonary mycosis, one systemic candidiasis). Because no HLA-identical donor was available, a haploidentical transplantation was performed in both cases. Using a specially designed PCR method for the assessment of minimal residual disease (MRD), based on the quantitative detection of the individual chromosomal breakpoint in the MLL gene, both patients achieved complete and persistent molecular remission after transplantation. The immune reconstitution after transplantation is described in terms of total CD3+/CD4+, CD3+/CD8+, CD19+, and CD16+/CD56+ cell numbers over time. The KIR and HLA genotypes of donors and recipients are reported and the possibility of a KIR-mediated alloreactivity is discussed. This report illustrates that haploidentical transplantation may offer a chance of cure without chronic graft-versus-host disease in situations where no suitable HLA-identical donor is available even in a high-risk setting and shows the value of MRD monitoring in the pre- and posttransplant setting.

Minimal residual disease; Haploidentical stem cell transplantation; MLL; KIR; Acute myeloid leukemia