Spectral karyotyping and fluorescence in situ hybridization analyses identified a novel three-way translocation involving inversion 16 in therapy-related acute myeloid leukemia M4eo

Ohsaka, Akimichi; Otsubo, Kaori; Yokota, Harushige; Hisa, Tomoko; Saito, Hajime; Kozaki, Takazumi

doi:10.1016/j.cancergencyto.2008.04.008

Cited by 6 publications

(3 citation statements)

References 23 publications

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“…The delineation of CCR changes is difficult and often requires several tools. Traditional GTG‐banding often reveals abnormal chromosomes on a gross level, while fluorescence in situ hybridization (FISH), and spectral karyotyping (SKY) can identify translocations between chromosomes [Ohsaka et al, 2008]. The sophisticated FISH technique, multicolor banding (mBAND), can further demonstrate subtle changes [Seller et al, 2006; Weise et al, 2008; Lee et al, 2009].…”

Section: Introductionmentioning

confidence: 99%

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Lee

Chen

et al. 2010

American J of Med Genetics Pt A

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Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG-banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her father had an unrelated translocation between chromosomes 3 and 16, suggesting the possibility of an autosomal dominant trait that predisposes to complex synapses and recombination between multiple chromosomes during meiosis. This study demonstrates the power of combining available chromosome analysis technologies in resolving CCR.

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Section: Introductionmentioning

confidence: 99%

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Lee

Chen

et al. 2010

American J of Med Genetics Pt A

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“…RUNX1-RUNX1T1 can be generated not only by t(8;21) but also by its infrequent variants, including complex translocations involving one or two additional chromosomes [2–5], and insertions [e.g., ins(21;8)(q22q22;q22) and ins(8;21)(q22;q22q22)] [2,5,6]. Likewise, variants of inv(16)/t(16;16) and cryptic rearrangements leading to CBFB-MYH11 have been reported [7 • ,8,9]. …”

Section: Introductionmentioning

confidence: 99%

Advances in molecular genetics and treatment of core-binding factor acute myeloid leukemia

Mrózek

Marcucci

Paschka

et al. 2008

Current Opinion in Oncology

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Purpose of review Core-binding factor (CBF) acute myeloid leukemia (AML) is among the most common cytogenetic subtypes of AML, being detected in approximately 13% of adults with primary disease. Although CBF-AML is associated with a relatively favorable prognosis, only one-half of the patients are cured. Herein we review recent discoveries of genetic and epigenetic alterations in CBF-AML that may represent novel prognostic markers and therapeutic targets and lead to improvement of the still disappointing clinical outcome of these patients. Recent findings Several acquired gene mutations and gene-expression and microRNA-expression changes that occur in addition to t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;q22), the cytogenetic hallmarks of CBF-AML, have been recently reported. Alterations that may represent cooperative events in CBF-AML leukemogenesis include mutations in the KIT, FLT3, JAK2 and RAS genes, haploinsufficiency of the putative tumor suppressor genes TLE1 and TLE4 in t(8;21)-positive patients with del(9q), MN1 overexpression in inv(16) patients, and epigenetic and posttranscriptional silencing of CEBPA. Genome-wide gene-expression and microRNA-expression profiling identifying subgroups of CBF-AML patients with distinct molecular signatures, different clinical outcomes, or both, have also been reported. Summary Progress has been made in delineating the genetic basis of CBF-AML that will likely result in improved prognostication and development of novel, risk-adapted therapeutic approaches.

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“…In ratio labeling, different probes are labeled with a combination of fluorophores, but the amount of the target is differentiated by the amount of fluorophore present in each probe. The use of multi-colored probes has given rise to several techniques, such as multiplex-FISH (M-FISH), spectral karyotyping (SKY) and combined binary ratio labeling (COBRA), which have been used to probe specific chromosomal regions [22][23][24] and study chromosomal characteristics [25][26][27][28][29][30][31][32][33][34].…”

Section: In Situ Hybridizationmentioning

confidence: 99%

Nucleic Acids as Detection Tools

Lam

Aguirre

2010

The Chemical Biology of Nucleic Acids

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In this chapter, we review some of the popular detection methods that utilize nucleic acids. First, we discuss assorted techniques in which nucleic acid probes are used to detect other nucleic acid sequences, followed by a discussion of functional nucleic acids and their applications as biosensors in conjunction with fluorescent, colorimetric, electrochemical and piezoelectric detection platforms. Detection of nucleic acid targets by nucleic acid probesSince many human diseases are linked to genetic perturbations, identification of specific mutations in patients has become a highly important practice in modern medicine. A great deal of DNA-based diagnostics pertain to identifying subtle differences in sequence content and their associated phenotypes. These differences are often the result of single nucleotide polymorphisms (SNPs) or other sequence alterations (such as point mutations, insertions and deletions). Since SNP is the most frequent form of genetic variation among individuals (roughly one for every 1000 nucleotides), many nucleic acid-based detection technologies are directed at identifying single-nucleotide differences [7,8].Apart from local genetic mutations, structural and distant site changes of DNA sequence are also observed. These large genomic alterations include insertion-deletions, gene copy number variants (CNVs), inversions and translocations, which have been linked to a variety of genetic disorders [9]. For instance, CNVs are characterized by atypical gene content and/or gene deregulation associated with CHARGE syndrome and Parkinson's and Alzheimer's disease [8,10,11]. Currently, there are a plethora of methods for detecting local and structural genetic changes, but here we will only discuss a few major techniques.

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Spectral karyotyping and fluorescence in situ hybridization analyses identified a novel three-way translocation involving inversion 16 in therapy-related acute myeloid leukemia M4eo

Cited by 6 publications

References 23 publications

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Advances in molecular genetics and treatment of core-binding factor acute myeloid leukemia

Nucleic Acids as Detection Tools

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