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)

Sang Guk Lee, Tae Sung Park, Sung Chul Won, Jaewoo Song, Kyunga Lee, Jong Rak Choi, Rolf Marschalek, Claus Meyer

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)32-38
Number of pages7
JournalCancer Genetics and Cytogenetics
Volume197
Issue number1
DOIs
Publication statusPublished - 2010 Feb 1

Fingerprint

Precursor Cell Lymphoblastic Leukemia-Lymphoma
Leukemia
Chromosomes
Genes
Chromosomes, Human, Pair 11
Reverse Transcriptase Polymerase Chain Reaction
Cytogenetics
Organism Cloning
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Lee, Sang Guk ; Park, Tae Sung ; Won, Sung Chul ; Song, Jaewoo ; Lee, Kyunga ; Choi, Jong Rak ; Marschalek, Rolf ; Meyer, Claus. / 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). In: Cancer Genetics and Cytogenetics. 2010 ; Vol. 197, No. 1. pp. 32-38.
@article{5a90d74fed8b48859a138ca8685b4ee5,
title = "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)",
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.",
author = "Lee, {Sang Guk} and Park, {Tae Sung} and Won, {Sung Chul} and Jaewoo Song and Kyunga Lee and Choi, {Jong Rak} and Rolf Marschalek and Claus Meyer",
year = "2010",
month = "2",
day = "1",
doi = "10.1016/j.cancergencyto.2009.10.009",
language = "English",
volume = "197",
pages = "32--38",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "1",

}

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). / Lee, Sang Guk; Park, Tae Sung; Won, Sung Chul; Song, Jaewoo; Lee, Kyunga; Choi, Jong Rak; Marschalek, Rolf; Meyer, Claus.

In: Cancer Genetics and Cytogenetics, Vol. 197, No. 1, 01.02.2010, p. 32-38.

Research output: Contribution to journalArticle

TY - JOUR

T1 - 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)

AU - Lee, Sang Guk

AU - Park, Tae Sung

AU - Won, Sung Chul

AU - Song, Jaewoo

AU - Lee, Kyunga

AU - Choi, Jong Rak

AU - Marschalek, Rolf

AU - Meyer, Claus

PY - 2010/2/1

Y1 - 2010/2/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=74749083467&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=74749083467&partnerID=8YFLogxK

U2 - 10.1016/j.cancergencyto.2009.10.009

DO - 10.1016/j.cancergencyto.2009.10.009

M3 - Article

C2 - 20113834

AN - SCOPUS:74749083467

VL - 197

SP - 32

EP - 38

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 1

ER -