ArticleMolecular cytogenetics2014
Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Rapid detection of myeloid neoplasm fusions using single-molecule long-read sequencing.PLOS global public health · 2023Article
- Identification of LTF as a Prognostic Biomarker for Osteosarcoma.Journal of oncology · 2022Article
- The corrected gene proximity map for analyzing the 3D genome organization using Hi-C data.BMC bioinformatics · 2020Article
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Authors and funding
12 authors at 5 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundIn 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.
methodsCytogenetic and molecular-cytogenetic techniques, chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation.
resultsUsing 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).
conclusionsThe 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.
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