Universität zu Köln

Jancuskova, Tereza, Plachy, Radek, Zemankova, Lucie, Hardekopf, David Warren, Stika, Jiri, Zejskova, Lenka, Praulich, Inka, Kreuzer, Karl-Anton, Rothe, Achim, Othman, Moneeb A. K., Kosyakova, Nadezda and Pekova, Sona (2014). Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient. Mol. Cytogenet., 7. LONDON: BMC. ISSN 1755-8166

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Jancuskova, Tereza UNSPECIFIED UNSPECIFIED UNSPECIFIED Plachy, Radek UNSPECIFIED UNSPECIFIED UNSPECIFIED Zemankova, Lucie UNSPECIFIED UNSPECIFIED UNSPECIFIED Hardekopf, David Warren UNSPECIFIED UNSPECIFIED UNSPECIFIED Stika, Jiri UNSPECIFIED UNSPECIFIED UNSPECIFIED Zejskova, Lenka UNSPECIFIED UNSPECIFIED UNSPECIFIED Praulich, Inka UNSPECIFIED UNSPECIFIED UNSPECIFIED Kreuzer, Karl-Anton UNSPECIFIED UNSPECIFIED UNSPECIFIED Rothe, Achim UNSPECIFIED UNSPECIFIED UNSPECIFIED Othman, Moneeb A. K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kosyakova, Nadezda UNSPECIFIED UNSPECIFIED UNSPECIFIED Pekova, Sona UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-433943
DOI:	10.1186/1755-8166-7-47
Journal or Publication Title:	Mol. Cytogenet.
Volume:	7
Date:	2014
Publisher:	BMC
Place of Publication:	LONDON
ISSN:	1755-8166
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MINIMAL RESIDUAL DISEASE; EVI1 EXPRESSION; ABNORMALITIES; MARKER; GENE; AML Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43394