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


ABSTRACT

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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REFERENCES

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