Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;22;21)(q34;q11;q22).
A case of chronic myeloid leukemia displaying an uncommon t(21;22)(q22;q11) is reported. For the first time, this translocation has been characterized by fluorescence in situ hybridization (FISH) and the reverse transcriptase polymerase chain reaction (RT-PCR). FISH, with the use of whole-chromosome painting probes and probes specific for the BCR and ABL genes, showed a three-way variant Philadelphia translocation (9;22;21)(q34;q11;q22) with a BCR/ABL fusion residing on the der(22). In addition, RT-PCR demonstrated a b2a3 BCR/ABL fusion transcript. Underlying mechanisms and prognostic implications are discussed.
Guillaume
B
B
Centre de Génétique Médicale UCL, Brussels, Belgium.
Ameye
G
G
Libouton
J M
JM
Dierlamm
J
J
Vaerman
J L
JL
Straetmans
N
N
Ferrant
A
A
Verellen-Dumoulin
C
C
Michaux
L
L
D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D017404:In Situ Hybridization, Fluorescence; D016898:Interferon-alpha / Q000627:therapeutic use; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D010677:Philadelphia Chromosome; D020133:Reverse Transcriptase Polymerase Chain Reaction
D016898:Interferon-alpha; D016044:Fusion Proteins, bcr-abl; D006918:Hydroxyurea