Hematopoietic stem cell transplantation in AML patients with t(8;21)(q22;q22) translocation

N.N. Mamayev, A.V. Gorbunova, T.L. Gindina, I.M. Barkhatov, S.N. Bondarenko, M.Yu. Averyanova, О.V. Pirogova, O.V. Goloshchapov, Ye.V. Kondakova, and B.V. Afanasyev

R.M. Gorbacheva Institute of Pediatric Oncology, Hematology and Transplantology, I.P. Pavlov State Medical University, Saint Petersburg, Russian Federation


ABSTRACT

The outcomes of bone marrow transplantation for treatment of relapses in 7 AML patients with t(8;21)(q22;q22) translocation are presented and analyzed. Two of them were transplanted in the 1st remission, and 5 patients received HSCT during resistance to the therapy. Three patients underwent unrelated allo-HSCT with various sources of HSC. Three others were treated with related allo-, auto-, or haplo-HSCT, respectively. In the last patient, auto-HSCT followed by related haplo-HSCT was performed. The course of disease was monitored using the serial levels of both AML1-ETO and WT1 gene expression. The high AML1-ETO levels and t(8;21) translocation were detected in all studied patients, whereas no FLT3 gene mutations were found in any patients, and a classic V617F JAK2 mutation was present in 1 patient. The levels of AML1-ETO and WT1 gene expression decreased in parallel with the relapse reduction in 2 patients, but remained elevated in 3 other patients despite the normalization of bone marrow morphologic picture, including 2 cases of development of extramedullary AML relapses. Relapses were accompanied by the high levels of the above gene expression. The study led to the conclusion that bone marrow transplantation is indicated for some AML patients with t(8;21) translocation. The treatment efficacy can be monitored using serial measurements of WT1 gene expression levels.


Keywords: AML with t(8;21) translocation, bone marrow transplantation, AML1-ETO and WT1 gene expression monitoring, molecular monitoring during treatment of leukemia.

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