Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts.
10.3343/kjlm.2009.29.5.390
- Author:
Woong Rin CHANG
1
;
Il Joong PARK
;
Hyun Woo LEE
;
Joon Seong PARK
;
Hugh Chul KIM
;
Hyon Joo KIM
;
Jae Ho HAN
;
Sung Ran CHO
Author Information
1. Department of Laboratory Medicine, Ajou University School of Medicine, Suwon, Korea. sungran@ajou.ac.kr
- Publication Type:Case Report ; English Abstract
- Keywords:
Acute myeloid leukemia;
t(16;
21)(p11;
q22);
Erythrophagocytosis;
TLS/FUS-ERG
- MeSH:
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
- From:The Korean Journal of Laboratory Medicine
2009;29(5):390-395
- CountryRepublic of Korea
- Language:Korean
-
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.
