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

• Park GC
• Cho EH
• Kang SH
• Jang SJ
• Moon DS
• Park G

• KMID: 2353427
• DOI: http://doi.org/10.3343/lmo.2016.6.4.246

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

MeSH Terms

Chromosome Aberrations*
Diagnosis
Humans
Leukemia, Myeloid, Acute*
Polymerase Chain Reaction
Recurrence
Reverse Transcription

Figure

• 

  Fig. 1 G-banded karyotype and ideogram of the patient's bone marrow cells shows 45,X,-X,t(3;21;8)(p21;q22;q22),t(2;11)(q31;p15).

• 

  Fig. 2 (A) Identification of RUNX1-RUNX1T1 fusion transcript by multiplex RT-PCR. Amplification products of 8 parallel multiplex RT-PCR reactions. (B) Corresponding split-out reactions. The arrow indicates the RUNX1-RUNX1T1 fusion transcript (197 bp).

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