Lab Med Online.  2016 Oct;6(4):246-249. 10.3343/lmo.2016.6.4.246.

Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

Affiliations
  • 1Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, Korea. creatgeon@chosun.ac.kr
  • 2Green Cross Genome, Yongin, Korea.

Abstract

One of the most frequent structural chromosomal anomaly is t(8;21)(q22;q22) that occurs in approximately 5-15% of all acute myeloid leukemia (AML). However, t(3;21)(p21;q22) and t(2;11)(q31;p15) translocations are rarely reported in AML. Here, we report a unique case of AML with two translocations, t(3;21;8)(p21;q22;q22) and t(2;11)(q31;p15). Using multiplex reverse transcription polymerase chain reaction, we identified a RUNX1-RUNX1T1 fusion gene. Following a second relapse, the patient did not respond to therapy and died 55 months following the first diagnosis. We believe that this is the first case describing concurrent chromosomal aberrations involving three-way t(3;21;8) and two-way t(2;11) translocations in de novo acute myeloid leukemia.

Keyword

Acute myeloid leukemia; RUNX1-RUNX1T1; Variant translocation
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