Allogeneic Hematopoietic Stem Cell Transplantation for ALL Patients with t(12;21)(p13;q22) Translocation

N.N. Mamaev1, E.V. Semenova1, N.V. Stancheva1, V.A. Katerina1, I.M. Barkhatov1, A.V. Evdokimov1, E.G. Boychenko2, T.L. Gindina1, V.M. Kravtsova1, L.S. Zubarovskaya1, B.V. Afanasyev1

1 R.M. Gorbacheva Memorial Institute of Children Oncology, Hematology and Transplantation under I.P. Pavlov State Medical University, Saint Petersburg, Russian Federation

2 1st Municipal Children’s Hospital, Saint Petersburg, Russian Federation

For citation: Mamaev N.N., Semenova E.V., Stancheva N.V., Katerina V.A., Barkhatov I.M., Evdokimov A.V., Boichenko E.G., Gindina T.L., Kravtsova V.M., Zubarovskaya L.S., Afanas’ev B.V. Allogeneic Hematopoietic Stem Cell Transplantation for ALL Patients with t(12;21)(p13;q22) Translocation. Klin. onkogematol. 2014; 7(3): 327–34 (In Russ.).


The results of allogeneic hematopoietic stem cell transplantation (alloHSCT) in 10 pediatric patients (4 boys, 6 girls at the age of 4 to 17 years, mean age is 9.8 years) with relapses of acute lymphoblastic leukemia (ALL) with TEL-AMLI fusion gene are presented. The first remission duration ranged from 20 to 70 months (mean duration 39.9 months). Transplantation was performed in 6 patients during the second (and further) remission, whereas 4 patients underwent transplantation during the relapse. Six patients received a graft from matched related (n = 3) or unrelated (n = 3) donors, haploidentical HSCT was performed in four other patients because there was no donor. Conditioning regimens were myeloablative in 8 cases and RIC (Reduced Intensity Conditioning) in 2 cases. Successful engrafting took place in 9 (90 %) of 10 patients. Additional haploidentical transplantation was performed in 1 case, when the transplant was rejected.

Monitoring of treatment was performed by means of serial testing of TEL-AMLI fusion gene expression level, of serial donor chimerism and the blast cell count in bone marrow and peripheral blood. The study demonstrated that four patients younger than 4 years had TEL-AML1 gene expression at all stages of their disease, including pre- and post-transplantation period. Due to it, even the donor chimerism and blast cell count in bone marrow and/or peripheral blood changed. On the contrary, in 3 more patients, TEL-AML1 gene expression levels were low before alloHSCT, being absent after HSCT.

In general, seven patients have been monitored for 178–2627 days (at the average of 870 days) including two patients with post-transplant relapses. At the same time, 3 patients died on days 20–263 after transplantation.

The observed difference in response to chemotherapy might be supposedly explained by involvement of not only hematopoietic, but also mesenchymal cells into the leukemic process (this fact was demonstrated for this group of patients by S. Shalapour et al., 2010). But this fact should be confirmed in further studies.

Keywords: ALL, t(12;21)(p13;q22) translocation, alloHSCT, molecular monitoring, difference in response to treatment.

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Accepted: May 22, 2014

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Acute myeloid leukemias with t(7;21)(p22;q22) translocation, 5q- deletion, CD56 expression, and hemophagocytosis: case report and literature review

N.N. Mamayev1, T.L. Gindina1, E.G. Boychenko2, A.V. Gorbunova1, V.M. Kravtsova1, N.V. Stancheva1, P.V. Kozhokar1, O.V. Paina1, L.S. Zubarovskaya1, and B.V. Afanasyev1

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

2 Children’s City Hospital #1, Saint Petersburg, Russian Federation


We present the clinical and laboratory data on a 13-year old patient with the recently described variant of CD56-positive acute myeloid leukemia with criptic t(7;21)(p22;q22) translocation involving rearrangements of RUNX1 and USP42 genes, 5q deletion, and hemophagocytosis. According to the literature, this rare recently described AML subvariant mostly occurs in males, is resistant to chemotherapy, and can be successfully treated using allogeneic hematopoietic stem cell transplantation.

Keywords: acute myeloid leukemia, t(7;21)(p22;q22), 5q-, CD56+, resistance to chemotherapy, erythrophagocytosis, alloHSCT.

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