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Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis.

Authors
 Tae Sung Park  ;  Jaewoo Song  ;  Kyung-A Lee  ;  Yoo Hong Min  ;  Sang-Guk Lee  ;  Yongjung Park  ;  Juwon Kim  ;  Eun Yup Lee  ;  Jong Rak Choi 
Citation
 CANCER GENETICS AND CYTOGENETICS , Vol.183(1) : 72-76, 2008 
Journal Title
 CANCER GENETICS AND CYTOGENETICS 
ISSN
 0165-4608 
Issue Date
2008
MeSH
Adult ; Centromere/genetics* ; Chromosome Banding/methods ; Chromosome Inversion* ; Chromosomes, Human, Pair 21* ; Chromosomes, Human, Pair 8* ; Cytogenetic Analysis/methods* ; Humans ; In Situ Hybridization, Fluorescence/methods ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics* ; Male ; Middle Aged ; Translocation, Genetic*
Keywords
Adult ; Centromere/genetics* ; Chromosome Banding/methods ; Chromosome Inversion* ; Chromosomes, Human, Pair 21* ; Chromosomes, Human, Pair 8* ; Cytogenetic Analysis/methods* ; Humans ; In Situ Hybridization, Fluorescence/methods ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics* ; Male ; Middle Aged ; Translocation, Genetic*
Abstract
Acute myelogenous leukemia (AML) with t(8;21)(q22;q22) demonstrates unique clinico-pathologic disease entity in patients with hematologic malignancies. The t(8;21), which results in fusion of the AML1 gene on 21q22 and the ETO gene on 8q22 on a molecular level, is one of the most common nonrandom chromosomal changes, and it is found in about 5-12% of patients with AML. Among these cases, complex variants involving chromosomes 8 and 21, as well as a third or fourth chromosome, account for approximately 6-10% of patients with an AML1/ETO chimeric gene, and about 100 variant cases with AML1/ETO fusion transcript have been reported in the literature. Here, we describe a rare case report of reciprocal paracentric inversion-associated t(8;21) variant in a 28-year old male patient with de novo AML. The abnormal results of conventional cytogenetics and interphase fluorescent in situ hybridization in this patient drove us to perform further studies and a literature review. This report emphasizes the value of "conventional" cytogenetics, as well as "newly developed" molecular cytogenetic methods in the diagnosis of rare complex t(8;21) variant in patients with AML.
Full Text
http://www.sciencedirect.com/science/article/pii/S0165460808001386
DOI
10.1016/j.cancergencyto.2008.02.003
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Min, Yoo Hong(민유홍) ORCID logo https://orcid.org/0000-0001-8542-9583
Park, Yong Jung(박용정)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Sang-Guk(이상국) ORCID logo https://orcid.org/0000-0003-3862-3660
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/108096
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