title: Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, University Hospital Maastricht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Stevens-Kroef
authors.forename: B
authors.initials: B
authors.lastname: Poppe
authors.forename: S
authors.initials: S
authors.lastname: van Zelderen-Bhola
authors.forename: E
authors.initials: E
authors.lastname: van den Berg
authors.forename: M
authors.initials: M
authors.lastname: van der Blij-Philipsen
authors.forename: A
authors.initials: A
authors.lastname: Geurts van Kessel
authors.forename: R
authors.initials: R
authors.lastname: Slater
authors.forename: G
authors.initials: G
authors.lastname: Hamers
authors.forename: L
authors.initials: L
authors.lastname: Michaux
authors.forename: F
authors.initials: F
authors.lastname: Speleman
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
mesh_terms: D000208:Acute Disease; D000328:Adult; D000368:Aged; D002648:Child; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D000090063:Proto-Oncogene Mas; D014178:Translocation, Genetic