Translocation (2;3)(p21;q26) as the Sole Anomaly in a Case of Primary Myelofibrosis

Herens, Christian; Hermanne, J; Tassin, Françoise; Thiry, Albert; Jamar, Mauricette; Schaaf‐Lafontaine, Nicole; Fillet, Georges; Koulischer, L

doi:10.1016/s0165-4608(98)00186-1

Cited by 4 publications

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several novel rearrangements, both recurrent and sporadic, were shown to target EVI1, such as the t(3;17)(q26;q22) (Mecucci et al, 1984;Mugneret et al, 1992;Pedersen-Bjergaard et al, 1995;Charrin et al, 2002) and balanced chromosomal translocations between the chromosome 2 short arm and 3q26 in myeloid malignancies (Kwong et al, 1992;Fleischman et al, 1996;Levaltier et al, 1996;Herens et al, 1999;Stevens-Kroef et al, 2004). A third recurrent EVI1 translocation identified in this patient series is the t(3;6)(q26;q25), detected in a patient with sAML, which we also recently described in a cytogenetically identical rearrangement (Van Limbergen et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements

Poppe

Dastugue

Vandesompele

et al. 2005

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

In contrast to the well-documented involvement of EVI1 in various 3q26 aberrations, the transcriptional status of EVI1 in rare recurrent or sporadic 3q26 chromosomal defects has remained largely unexplored. Moreover, in a recent report, the association between 3q26 alterations in myeloid proliferations and ectopic EVI1 expression was questioned. Therefore, we performed a detailed physical mapping of 3q26 breakpoints using a 1.3-Mb tiling path BAC contig covering the EVI1 locus and a carefully designed quantification of both EVI1 and MDS/EVI1 transcripts in 30 hematological malignancies displaying 3q26 aberrations. Cases included well-known rare, recurring chromosomal aberrations such as t(3;17)(q26;q22), t(2;3)(p21-22;q26), and t(3;6)(q26;q25), as well as 10 new sporadic cases. Extensive 3q26 breakpoint mapping allowed unequivocal and sensitive FISH detection of EVI1 rearrangements on both metaphases and interphase nuclei. Real-time quantitative PCR analyses indicated that typically both MDS1/EVI1 and EVI1, but not MDS1, were expressed in these malignancies, with EVI1 the primary transcript. In conclusion, we have demonstrated EVI1 involvement in numerous novel sporadic and recurrent 3q26 rearrangements. Our results underscore the feasibility of FISH as an adjunct to PCR for the identification of EVI1 deranged leukemias and identified EVI1 as the principal transcript expressed in these malignancies.

show abstract

Section: Discussionmentioning

confidence: 99%

EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements

Poppe

Dastugue

Vandesompele

et al. 2005

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

show abstract

The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Nunoda

Sashida

Ohyashiki

et al. 2006

Cancer Genetics and Cytogenetics

View full text Add to dashboard Cite

Translocation t(2;3)(p15–23;q26–27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features

et al. 2004

View full text Add to dashboard Cite

Chromosomal rearrangements involving 3q26 either due to inversion or translocation with various partner chromosomes are a recurrent finding in malignant myeloid disorders. Typically, these chromosome aberrations contribute to ectopic expression of or to the formation of fusion genes involving the EVI1 proto-oncogene. Chromosomal translocations involving the short arm of chromosome 2 (p15-p23) and the distal part of the long arm of chromosome 3 (q26-q27) are a rare but recurrent finding in patients with myeloid malignancies, and are assumed to be part of this spectrum of disorders. Thus far, however, these translocations have been poorly studied. Here, we present 21 new cases with myelodysplasia, acute myeloid leukemia or CML in blast crisis, which upon karyotyping showed the presence of a t(2;3). Furthermore, an extensive literature review disclosed 29 additional cases. Morphological, clinical and cytogenetic assessment revealed the typical hallmarks of 3q26/EVI1 rearrangements, that is, trilineage dysplasia and dysmegakaryopoiesis, poor prognosis and additional monosomy 7. Molecular cytogenetic analysis and PCR in selected samples indicated that in most cases the translocation indeed targets the EVI1 locus. Mapping of the chromosome 2 breakpoints confirmed the initially suspected cytogenetic breakpoint heterogeneity at the 2p arm.

show abstract

Translocation (2;3)(p21;q26) as the Sole Anomaly in a Case of Primary Myelofibrosis

Abstract: Translocation t(2p

Cited by 4 publications

References 14 publications

EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements

EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements

The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Translocation t(2;3)(p15–23;q26–27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features

Contact Info

Product

Resources

About