Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.
Two patients with Ph-positive chronic myelocytic leukemia in erythroblastic transformation and rearrangement of the short arm of chromosome 18 are reported. Fluorescence in situ hybridization studies showed that the 18p rearrangement resulted from translocation of the main part of chromosome 22 long arm to 18p, including BCR-ABL1 fusion. The 18p abnormality resulted, thus, in loss of 18p and duplication of BCR-ABL1 in both patients. The possible relation to the erythroblastic type of blastic phase is briefly discussed. In addition an apparently intact germline ABL1 gene was duplicated and inserted into chromosome 6 at band p21 in one of these patients.
Nguyen Khac
Florence
F
Service d'Hématologie Biologique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. florence.nguyen@psl.ap-hop-paris.fr
Waill
Marie Christine
MC
Romana
Serge P
SP
Radford-Weiss
Isabelle
I
Busson
Maryvonne
M
Collonge-Rame
Marie Agnès
MA
Ribadeau-Dumas
Antoine
A
Piffaut
Marie-Claude
MC
Daniel
Marie-Thérèse
MT
Davi
Frédéric
F
Merle-Béral
Hélène
H
Berger
Roland
R
Arock
Michel
M
D000368:Aged; D000369:Aged, 80 and over; D002471:Cell Transformation, Neoplastic; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004912:Erythrocytes / Q000473:pathology*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D014178:Translocation, Genetic
D016044:Fusion Proteins, bcr-abl