Korean J Lab Med.  2009 Oct;29(5):390-395. 10.3343/kjlm.2009.29.5.390.

Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts

• Chang WR
• Park IJ
• Lee HW
• Park JS
• Kim HC
• Kim HJ
• Han JH
• Cho SR

• KMID: 1077413
• DOI: http://doi.org/10.3343/kjlm.2009.29.5.390

Abstract

Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to be associated with poor prognosis, young age (median age, 22 yr), and involvement of various subtypes of the French-American-British classification. We report here 2 AML patients with t(16;21)(p11;q22), proved by conventional cytogenetics and/or reverse transcription (RT)-PCR. Erythrophagocytosis by leukemic blasts was observed in both of the cases. One patient was a 24 yr-old male with acute myelomonocytic leukemia. His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. Although he received allogeneic peripheral blood stem cell transplantation after the first remission, he died 9 months after the initial diagnosis due to relapse of the disease and graft-versus-host disease. The other patient was a 72 yr-old male with acute myeloid leukemia without maturation. His karyotype was 45,XY,-16,add(21)(q22) and the presence of t(16;21)(p11;q22) was detected by RT-PCR. He was transferred to another hospital with no more follow-up. We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUS-ERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis.

Keyword

Acute myeloid leukemia; t(16;21)(p11;q22); Erythrophagocytosis; TLS/FUS-ERG

MeSH Terms

Aged
Chromosomes, Human, Pair 16/*genetics
Chromosomes, Human, Pair 22/*genetics
Graft vs Host Disease/diagnosis
Humans
Karyotyping
Leukemia, Myeloid, Acute/diagnosis/*genetics
Male
Oncogene Proteins, Fusion/*genetics
RNA-Binding Protein FUS/*genetics
Reverse Transcriptase Polymerase Chain Reaction
*Translocation, Genetic
Young Adult

Figure

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  Fig. 1. Bone marrow smears of case 1 (A) and case 2 (B) showing blast cells with erythrophagocytic activity and cytoplasmic vacuoles (Wright-Giemsa stain, ×1,000).

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  Fig. 2. Karyograms of the patients presented. (A) Case 1 showing 46,XY,t(16;21)(p11;q22),del(18)(p11.2). (B) Case 2 showing 45,XY, −16,add(21)(q22). Arrows indicate rearranged and abnormal chromosomes.

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  Fig. 3. (A) Multiplex RT-PCR using HemaVision kit in case 1 (upper) and case 2 (lower). Both show an internal control band (911 bp, arrowhead) in each lane and 2 unknown bands (1 strong, 1 weak) in lane 5. (B) RT-PCR for t(16;21)(p11;q22) using HemaVision split-out PCR kit. Both cases show bands for the internal control (911 bp, arrowhead) and the TLS/FUS-ERG fusion transcripts of type A (313 bp) and type B (269 bp). Lane 1, 100 bp ladder; lane 2, case 1; lane 3, case 2. (C) RT-PCR for t(16;21)(p11;q22) using the primers reported by Kong, et al. Both cases have type A (255 bp), type B (211 bp), and an extra band (∗). Lane 1, 100 bp ladder; lane 2, negative control; lane 3, case 1; lane 4, case 2.

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