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@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 = {http://dx.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://dx.doi.org/10.1186/1755-8166-7-47.
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