Chronic myeloid leukemia with unusual variant Ph translocation (22;22)(q11;q13). Two cases with chimeric BCR-ABL transcripts.
We studied two cases of chronic myelogenous leukemia (CML) with unusual variant Philadelphia (Ph) translocation (22;22)(q11;q13). Southern blot analysis showed a chromosomal break in the BCR gene within the 5.8-kilobase (kb) breakpoint cluster region (bcr), between bcr exons 2 and 3 and between bcr exons 3 and 4, respectively. Chimeric bcr-abl mRNA was detected using polymerase chain reaction (PCR) which amplified, according to the respective bcr breakpoints, bcr exon 2-abl exon II and bcr exon 3-abl exon II junction products. These results further support the involvement, even when not cytogenetically detectable, of the 9q34 chromosomal region in all variant Ph translocations and that BCR-ABL gene fusion products are causally involved in the development of Ph positive CML.
Laï
J L
JL
Service de Cytogénétique, Faculté de Médecine, Lille, France.
Aissaoui
Z
Z
Collyn-d'Hooghe
C
C
Delfau
M H
MH
Grandchamp
B
B
Fenaux
P
P
Jouet
J P
JP
Desablens
B
B
Deminatti
M
M
Loucheux-Lefebvre
M H
MH
D000328:Adult; D015139:Blotting, Southern; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D009857:Oncogenes; D010677:Philadelphia Chromosome; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis*
D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl