Laï J L, Aissaoui Z, Collyn-d'Hooghe C, Delfau M H, Grandchamp B, Fenaux P, Jouet J P, Desablens B, Deminatti M, Loucheux-Lefebvre M H
Service de Cytogénétique, Faculté de Médecine, Lille, France.
Cancer Genet Cytogenet. 1990 Sep;48(2):209-16. doi: 10.1016/0165-4608(90)90122-q.
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.
