A Case of Acute Myeloid Leukemia with Masked t(8;21).
10.3343/kjlm.2006.26.5.338
- Author:
Hyunjung KIM
1
;
Myungshin KIM
;
Jihyang LIM
;
Yonggoo KIM
;
Kyungja HAN
;
Sung Yong KIM
;
Hee Je KIM
Author Information
1. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. yonggoo@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Masked t(8:21);
AML-M2;
t(8;
21);
Fluorescence in situ hybridization
- MeSH:
Arm;
Biopsy;
Bone Marrow;
Chromosome Aberrations;
Chromosomes, Human, Pair 21;
Chromosomes, Human, Pair 8;
Cytogenetics;
Diagnosis;
Fluorescence;
Humans;
In Situ Hybridization;
Karyotype;
Leukemia, Myeloid, Acute*;
Masks*;
Reverse Transcriptase Polymerase Chain Reaction
- From:The Korean Journal of Laboratory Medicine
2006;26(5):338-342
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We report a case that revealed the characteristics of acute myeloblastic leukemia with maturation (AML-M2) on the morphology of the bone marrow biopsy and 45,X,-Y in conventional cytogenetic study, but was confirmed to have a typical AML1/ETO translocation by molecular studies using reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization. Insertion of ETO gene on chromosome 8 into chromosome 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. Our final report on the patient's karyotype: 45,X,-Y.ish ins(21;8)(q22;q22q22)(AML1 +,ETO +;ETO +,AML1-). In case typical morphologic features compatible with recurrent cytogenetic abnormalities are shown, molecular studies in addition to conventional cytogenetic study might be required to confirm the diagnosis.
