Novel translocation (2;4) with consistent involvement of 2p23 in acute nonlymphocytic leukemia (M2)

Farag, Sherif; Challis, Jacqueline; White, Joanne; Garson, O. Margaret

doi:10.1016/0165-4608(92)90132-r

Cited by 8 publications

(5 citation statements)

References 9 publications

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“…With the exception of t(2;3)(p23;q27) and t(12; 22)(p13;q12ϳ13), which are recurrent translocations in AML (Mró zek et al, 2001), and the t(2; 4)(p23;q31), which has been found as the sole abnormality in one patient with AML evolving from MDS (Farag et al, 1992), the other balanced rearrangements identified by us have not been reported previously in AML . We hope that our study will facilitate recognition of these balanced aberrations, as well as the cryptic unbalanced rearrangements reported here, in more AML patients, thus allowing for molecular studies of genes involved in these aberrations and assessment of their clinical significance.…”

Section: Discussioncontrasting

confidence: 65%

Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q

Mrózek

Heinonen

Theil

et al. 2002

Genes Chromosomes & Cancer

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We used spectral karyotyping (SKY) to study 29 adults with acute myeloid leukemia and a complex karyotype containing one to nine abnormalities that were not fully identifiable by G-banding. SKY showed the origin of rings and unidentified material in unbalanced translocations in all cases and the origin of markers in most, allowing reinterpretation of 136 aberrations and discovery of three aberrations hidden in normal chromosomes. SKY confirmed 10 and refined the interpretation of three balanced aberrations recognized by G-banding and identified another nine balanced aberrations, including a novel translocation involving the RUNX1 gene. Eleven of 32 deletions found by G-banding were shown to be cryptic translocations or insertions, including three of four chromosome 3 deletions, two of three del(7q), and two of 12 del(5q). Of the 92 chromosomes deemed lost entirely by G-banding, 63 (68%) were shown to be involved in structural aberrations. This was especially true for -21 (eight of eight patients), -5 (five of six patients), -20 (seven of nine patients), and -18 (six of 12 patients). Unexpectedly, SKY uncovered a hidden overrepresentation of segments from at least one chromosome in 21 patients. The most frequently overrepresented was 21q, found in eight patients, including four with high-level 21q amplification. Fluorescence in situ hybridization showed that the RUNX1 gene was not the target of amplification in seven of these patients. Also frequently gained were 11q (in seven patients, including three with high-level MLL gene amplification) and 22q (in seven patients). We conclude that SKY considerably enhances the accuracy of karyotype interpretation, and that amplification of chromosomal material may play a greater role in leukemogenesis than has been recognized.

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Section: Discussioncontrasting

confidence: 65%

Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q

Mrózek

Heinonen

Theil

et al. 2002

Genes Chromosomes & Cancer

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“…These latter two rearrangements together with other rearrangements affecting the 2p23 locus -t(2;3)(p23;q26), t(2;4)(p23;q25), t(2;4)(p23;q31), t(2;4)(p23;q35), del(2)(p23) -were all described in AML cases. [141][142][143][146][147][148][149] However, a chromosome band contains 10 to 15 megabases of DNA and thus many other genes might be affected. Variants involving 5q35, ie t(3;5)(q25.1;q34-35) and t(5;17)(q32or35;q12), have been detected in myelodysplastic syndromes (MDS) and AML.…”

Section: Cytogenetic Variants Of the T(2;5)mentioning

confidence: 99%

Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas

et al. 2000

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“…For most of the novel translocations detected it is unclear at present if they constitute recurrent events in AML; possible recurrent translocations reported are summarized in Table II. A t(2;4)(p23;q31) revised by SKY in the series of Mrózek et al, [37] has been reported once previously in a case of AML-M2 as a sole aberration [43]. Furthermore, Van Limbergen et al, [39] identified two balanced translocations in their series which they suggested as Table II.…”

Section: Balanced Aberrationsmentioning

confidence: 81%

Multicolor Karyotyping in Acute Myeloid Leukemia

Tchinda

Volpert

McNeil

et al. 2003

Leukemia & Lymphoma

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Cytogenetic data have significantly contributed to our understanding of the heterogeneity of acute myeloid leukemia (AML). In AML, numerous recurrent chromosomal aberrations have been identified, and several of them, e.g. t(8;21)(q22;q22), t(15;17)(q22;q11-12), inv(16)(p13q22), are specific for distinct subgroups. Furthermore, chromosomal aberrations have proved to be of paramount prognostic importance for remission induction and survival. Chromosome analysis using classical cytogenetic banding techniques often fails to completely resolve complex karyotypes and cryptic translocations not identifiable by these techniques have been detected using molecular cytogenetic methods. While fluorescence in situ hybridization (FISH) has become an indispensable tool for screening and follow-up of known aberrations, the techniques of spectral karyotyping (SKY) and multiplex-fluorescence in situ hybridization (M-FISH) allow for the simultaneous visualization of all chromosomes of a metaphase in a single hybridization step, and thereby enable screening for the aberrations present without their prior knowledge. Therefore, with the introduction of these techniques in 1996 the comprehensive analysis of complex karyotypes and the identification of new, hitherto cryptic translocations and, ultimately, the identification of new disease subgroups seemed possible. Since, more than 600 cases of AML and MDS have been analyzed. Herein, we attempt to summarize the data published and discuss what has been achieved towards realization of these goals.

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Novel translocation (2;4) with consistent involvement of 2p23 in acute nonlymphocytic leukemia (M2)

Cited by 8 publications

References 9 publications

Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q

Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q

Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas

Multicolor Karyotyping in Acute Myeloid Leukemia

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