Double Inv(3)(q21q26), a rare but recurrent chromosomal abnormality in myeloid hemopathies.

Abstract:

:Inv(3)(q21q26)/t(3;3)(q21;q26) is a feature of a distinctive entity of acute myeloid leukemia (AML) associated with normal or elevated platelet count, atypical megakaryocytes and multilineage dysplasia in the bone marrow, as well as minimal to no response to chemotherapy and poor clinical outcome. The presence of an inversion on both chromosome 3s is a rare event, as only eight cases have been reported in the literature. Recently, we identified two patients with AML carrying a double inv(3)(q21q26). Using librairies of bacterial artificial chromosome clones mapping to bands 3q21 and 3q26, we found that the regions in which the breakpoints occurred were different in both patients, but located in the same restricted areas in each patient. Although it cannot be excluded that inversion occurred independently on both chromosome 3s, it is more likely that the presence of a double inv(3) is the result of loss of the normal chromosome 3 followed by a duplication of the inverted chromosome, or segmental loss of heterozygosity followed by a somatic repair mechanism.

journal_name

Anticancer Res

journal_title

Anticancer research

authors

De Braekeleer E,Douet-Guilbert N,Le Bris MJ,Ianotto JC,Berthou C,Gueganic N,Bovo C,Basinko A,Morel F,De Braekeleer M

subject

Has Abstract

pub_date

2013-02-01 00:00:00

pages

639-42

issue

2

eissn

0250-7005

issn

1791-7530

pii

33/2/639

journal_volume

33

pub_type

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