Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient

T. Jancuskova, R. Plachy, L. Zemankova, DW. Hardekopf, J. Stika, L. Zejskova, I. Praulich, KA. Kreuzer, A. Rothe, MA. Othman, N. Kosyakova, S. Pekova,

. 2014 ; 7 (-) : 47.

Language English Country England, Great Britain

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc14074846

BACKGROUND: In acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in band 3q26, can be rearranged with a variety of partner chromosomes and partner genes. Here we report on a 57-year-old female with AML who presented with the rare translocation t(3;10)(q26;q21) involving the MECOM gene. Our aim was to identify the fusion partner on chromosome 10q21 and to characterize the precise nucleotide sequence of the chromosomal breakpoint. METHODS: Cytogenetic and molecular-cytogenetic techniques, chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation. RESULTS: Using a combination of cytogenetic and molecular approaches, we mapped the t(3;10)(q26;q21) to the single nucleotide level, revealing a fusion of the MECOM gene (3q26.2) and C10orf107 (10q21.2). CONCLUSIONS: The approach described here opens up new possibilities in characterizing acquired as well as congenital chromosomal aberrations. In addition, DNA sequences of chromosomal breakpoints may be a useful tool for unique molecular minimal residual disease target identification in acute leukemia patients.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc14074846
003      
CZ-PrNML
005      
20210310113451.0
007      
ta
008      
141006s2014 enk f 000 0|eng||
009      
AR
024    7_
$a 10.1186/1755-8166-7-47 $2 doi
035    __
$a (PubMed)25071866
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a enk
100    1_
$a Jancuskova, Tereza $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
245    10
$a Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient / $c T. Jancuskova, R. Plachy, L. Zemankova, DW. Hardekopf, J. Stika, L. Zejskova, I. Praulich, KA. Kreuzer, A. Rothe, MA. Othman, N. Kosyakova, S. Pekova,
520    9_
$a BACKGROUND: In acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in band 3q26, can be rearranged with a variety of partner chromosomes and partner genes. Here we report on a 57-year-old female with AML who presented with the rare translocation t(3;10)(q26;q21) involving the MECOM gene. Our aim was to identify the fusion partner on chromosome 10q21 and to characterize the precise nucleotide sequence of the chromosomal breakpoint. METHODS: Cytogenetic and molecular-cytogenetic techniques, chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation. RESULTS: Using a combination of cytogenetic and molecular approaches, we mapped the t(3;10)(q26;q21) to the single nucleotide level, revealing a fusion of the MECOM gene (3q26.2) and C10orf107 (10q21.2). CONCLUSIONS: The approach described here opens up new possibilities in characterizing acquired as well as congenital chromosomal aberrations. In addition, DNA sequences of chromosomal breakpoints may be a useful tool for unique molecular minimal residual disease target identification in acute leukemia patients.
655    _2
$a časopisecké články $7 D016428
700    1_
$a Plachy, Radek $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
700    1_
$a Zemankova, Lucie $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
700    1_
$a Hardekopf, David Warren $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
700    1_
$a Stika, Jiri $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
700    1_
$a Zejskova, Lenka $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
700    1_
$a Praulich, Inka $u Department I of Internal Medicine, University at Cologne, Kerpener Str., Cologne, Germany.
700    1_
$a Kreuzer, Karl-Anton $u Department I of Internal Medicine, University at Cologne, Kerpener Str., Cologne, Germany.
700    1_
$a Rothe, Achim $u Oncological Therapy Center, Buchforststr., Cologne, Germany.
700    1_
$a Othman, Moneeb Ak $u Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany.
700    1_
$a Kosyakova, Nadezda $u Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany.
700    1_
$a Pekova, Sona $u Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
773    0_
$w MED00184062 $t Molecular cytogenetics $x 1755-8166 $g Roč. 7, č. - (2014), s. 47
856    41
$u https://pubmed.ncbi.nlm.nih.gov/25071866 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20141006 $b ABA008
991    __
$a 20210310113447 $b ABA008
999    __
$a ind $b bmc $g 1042729 $s 873758
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2014 $b 7 $c - $d 47 $i 1755-8166 $m Molecular cytogenetics $n Mol Cytogenet $x MED00184062
LZP    __
$a Pubmed-20141006
Back

Find record

Citation metrics

Archiving options