t(2;3)(p23;q26) in a patient with AML M2

Levaltier, Xavier; Penther, Dominique; Bastard, Christian; Troussard, Xavier

doi:10.1046/j.1365-2141.1996.17698.x

Cited by 11 publications

(7 citation statements)

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“…69,70 In addition to the t(3;12) and t(3;21), EVI1 is involved in several other chromosomal translocations such as the t(2;3)(p13;q26), t(2;3)(q23;q26), t(3;7)(q26;q22), t(3;13) (q27;q13-14), and t(3;17)(q26;q22). [71][72][73][74][75][76][77] Although these rearrangements result in EVI1 overexpression, as determined by RT-PCR of the 3Ј region of the gene, it is not known yet whether the inappropriate expression relates to EVI1 only or to a fusion protein which includes EVI1. Table 2 summarizes the location of breakpoints in the rearrangements involving EVI1 which have been reported.…”

Section: Involvement Of Evi1 In Myeloid Leukemiasmentioning

confidence: 99%

The EVI1 gene in myeloid leukemia

Nucifora

1997

Leukemia

119

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Leukemia is an acquired genetic disease caused by the accumulation of chromosomal abnormalities which modify either the biochemical property or the level of expression of proteins. Frequent genetic abnormalities identified in human leukemia are chromosomal rearrangements such as chromosomal translocations and inversions. Chromosome band 3q26 is the site of the breakpoint of recurring translocations and inversions observed in patients with myeloid leukemias. Two genes located at 3q26 have been implicated in development or progression of myeloid leukemia. They are MDS1 and EVI1. MDS1, first identified as part of a fusion transcript resulting from the t(3;21)(q26;q22), encodes a small protein of unknown function. EVI1 encodes a zinc finger protein inappropriately overexpressed by chromosomal rearrangements (in man) or by retroviral insertion (in the mouse). Both genes are rearranged by the t(3;21)(q26;q22) and by the t(3;12)(p13;q22). As a result of the translocation, they are expressed as fusion genes either with AML1 or with TEL. EVI1 and MDS1 are unusual in that they can either encode separate proteins, or they can be expressed as one protein which we named MDS1/EVI1. EVI1 and MDS1/EVI1 have opposite functions as transcription factors. In this report, we review the current information on the two genes, and on their involvement in myeloid leukemia.

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Section: Involvement Of Evi1 In Myeloid Leukemiasmentioning

confidence: 99%

The EVI1 gene in myeloid leukemia

Nucifora

1997

Leukemia

119

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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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“…[40][41][42][43] • t(2;5)(p23;q35) in the setting of chromic eosinophilic leukemia. 44 • Deletion(2)(p23) either as solitary or complex abnormalities in primary and secondary AML.…”

Section: Figurementioning

confidence: 99%

Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21

et al. 1999

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Chromosomal translocations are frequently linked to multiple hematological malignancies. The study of the resulting abnormal gene products has led to fundamental advances in the understanding of cancer biology. This is the first report of t(2;15)(p23;q22) and t(2;17)(p23;q21) translocations in human malignancy. Patient 1, a 73-year-old male, was diagnosed with myeloblastic (FAB M1 sub-type) AML. Cytogenetic analysis showed a 47,XY,t(2;15)(p23;q22),+13 karyotype. Fluorescent in situ hybridization (FISH) showed that the PML gene was transferred intact to the short arm of chromosome 2 while the ALK gene on chromosome 2p23 was passively transferred to the long arm of chromosome 15. Patient 2 was a 60-year-old male diagnosed with monocytic (FAB M4-type) AML. Cytogenetic analysis showed 46,XY,t(2;17)(p23;q21) karyotype. FISH analysis showed that neither RAR␣ nor ALK were disrupted by the translocation. None of the coding region of the three genes studied were translocated in these patients. This raises the possibilities that other neighboring genes could be involved or that noncoding regulatory sequences of the studied genes could be put in contact and deregulate expression of other genes. Alternatively, displacement of ALK, RAR␣ and PML to novel positions could lead to loss of their normal regulation

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t(2;3)(p23;q26) in a patient with AML M2

Cited by 11 publications

References 0 publications

The EVI1 gene in myeloid leukemia

The EVI1 gene in myeloid leukemia

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

Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21

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