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Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23).

Authors
 Sang-Guk Lee  ;  Tae Sung Park  ;  Sung Chul Won  ;  Jaewoo Song  ;  Kyung-A. Lee  ;  Jong Rak Choi  ;  Rolf Marschal다  ;  Claus Meyer 
Citation
 CANCER GENETICS AND CYTOGENETICS , Vol.197(1) : 32-38, 2010 
Journal Title
CANCER GENETICS AND CYTOGENETICS
ISSN
 0165-4608 
Issue Date
2010
MeSH
Base Sequence ; Cell Adhesion Molecules, Neuronal ; Child, Preschool ; Chromosomes, Human, Pair 11* ; Chromosomes, Human, Pair 19* ; Chromosomes, Human, Pair 2* ; Female ; Histone-Lysine N-Methyltransferase ; Humans ; Molecular Sequence Data ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Neoplasm Proteins/genetics* ; Nerve Tissue Proteins/genetics* ; Nuclear Proteins/genetics* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Transcription Factors/genetics* ; Translocation, Genetic*
Abstract
Translocations involving mixed lineage leukemia (MLL) gene at 11q23 are associated with de novo acute leukemia as well as therapy-related acute leukemia. More than 100 different translocations involving MLL have been described in acute leukemia, with more than 60 translocation partner genes characterized on the molecular level. In addition to various simple translocations affecting MLL, there are also complex forms involving three or more chromosomes. Here, we describe a novel three-way translocation of t(2;19;11)(p12;p13.3;q23) in a patient with acute lymphoblastic leukemia (ALL). In this translocation, the distal 19p13.3 joins the proximal 11q23 on der(11), whereas the distal 11q23 is translocated to 2p12. Three-way translocations involving 11q23 are often difficult to detect with cytogenetic means alone. In the present case, however, the chromosomes involved in the three-way translocation were readily identifiable by GTG banding. The MLL-MLLT1 fusion products from the derivative chromosome 11 were detected by reverse transcriptase-polymerase chain reaction (RT-PCR), and two splicing variant forms were confirmed by cloning and sequencing. Furthermore, the novel third partner gene, NRXN1, was detected by systematic breakpoint analysis using long-distance inverse-PCR methods (LDI-PCR). The apparent three-way translocation thus identified is noteworthy because few studies have reported complex rearrangements involving 11q23 and 19p13.3 in acute leukemias.
Full Text
http://www.sciencedirect.com/science/article/pii/S0165460809006037
DOI
10.1016/j.cancergencyto.2009.10.009
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Won, Sung Chul(원성철)
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/22282913/100520
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