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

J 2014

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

JANCUSKOVA, T; R PLACHY; L ZEMANKOVA; DW HARDEKOPF; Jiří ŠTIKA et al.

Základní údaje

Originální název

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

Autoři

JANCUSKOVA, T; R PLACHY; L ZEMANKOVA; DW HARDEKOPF; Jiří ŠTIKA ; L ZEJSKOVA; I PRAULICH; KA KREUZER; A ROTHE; MAK OTHMAN; N KOSYAKOVA a S PEKOVA

Vydání

MOLECULAR CYTOGENETICS, LONDON, BioMed Central, 2014, 1755-8166

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.140

Označené pro přenos do RIV

DOI

https://doi.org/10.1186/1755-8166-7-47

UT WoS

000339521000001

Klíčová slova anglicky

AML; MECOM; Chromosomal microdissection; Next-generation sequencing; Molecular marker

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 8. 2018 14:04, Mgr. Jiří Štika, Ph.D.

Anotace

V originále

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.

Citovat

JANCUSKOVA, T; R PLACHY; L ZEMANKOVA; DW HARDEKOPF; Jiří ŠTIKA; L ZEJSKOVA; I PRAULICH; KA KREUZER; A ROTHE; MAK OTHMAN; N KOSYAKOVA a S PEKOVA. Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient. MOLECULAR CYTOGENETICS. LONDON: BioMed Central, 2014, roč. 7, 5 s. ISSN 1755-8166. Dostupné z: https://doi.org/10.1186/1755-8166-7-47.

@article{1429317,
   author = {Jancuskova, T and Plachy, R and Zemankova, L and Hardekopf, DW and Štika, Jiří and Zejskova, L and Praulich, I and Kreuzer, KA and Rothe, A and Othman, MAK and Kosyakova, N and Pekova, S},
   article_location = {LONDON},
   doi = {https://doi.org/10.1186/1755-8166-7-47},
   keywords = {AML; MECOM; Chromosomal microdissection; Next-generation sequencing; Molecular marker},
   language = {eng},
   issn = {1755-8166},
   journal = {MOLECULAR CYTOGENETICS},
   title = {Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient},
   volume = {7},
   year = {2014}
}

TY  - JOUR
ID  - 1429317
AU  - Jancuskova, T - Plachy, R - Zemankova, L - Hardekopf, DW - Štika, Jiří - Zejskova, L - Praulich, I - Kreuzer, KA - Rothe, A - Othman, MAK - Kosyakova, N - Pekova, S
PY  - 2014
TI  - Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient
JF  - MOLECULAR CYTOGENETICS
VL  - 7
PB  - BioMed Central
SN  - 17558166
KW  - AML
KW  - MECOM
KW  - Chromosomal microdissection
KW  - Next-generation sequencing
KW  - Molecular marker
N2  - 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.
ER  -

JANCUSKOVA, T; R PLACHY; L ZEMANKOVA; DW HARDEKOPF; Jiří ŠTIKA; L ZEJSKOVA; I PRAULICH; KA KREUZER; A ROTHE; MAK OTHMAN; N KOSYAKOVA a S PEKOVA. Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient. \textit{MOLECULAR CYTOGENETICS}. LONDON: BioMed Central, 2014, roč.~7, 5 s. ISSN~1755-8166. Dostupné z: https://doi.org/10.1186/1755-8166-7-47.

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