RT Journal Article
SR Electronic
T1 Double Inv(3)(q21q26), a Rare but Recurrent Chromosomal Abnormality in Myeloid Hemopathies
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 639
OP 642
VO 33
IS 2
A1 ETIENNE DE BRAEKELEER
A1 NATHALIE DOUET-GUILBERT
A1 MARIE-JOSEE LE BRIS
A1 JEAN-CHRISTOPHE IANOTTO
A1 CHRISTIAN BERTHOU
A1 NADIA GUEGANIC
A1 CLEMENT BOVO
A1 AUDREY BASINKO
A1 FREDERIC MOREL
A1 MARC DE BRAEKELEER
YR 2013
UL http://ar.iiarjournals.org/content/33/2/639.abstract
AB 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.