Morphologic APL cases lacking evidence forRARα rearrangements
Case/M3 . | Karyotype . | PML-RARαFISH . | RT-PCR6-150 . | Southern blot6-151 . |
---|---|---|---|---|
56/M3r | 45,X,−Y,der(7)t(7;11) (q34;p15)ins(7;12)(q34;q24.3), der(11)t(7;11)/46,XY | Normal pattern6-152 | PML-RARα negative PLZF-RARα negative | RARα not rearranged |
57/M3r | 46,XX | ND | PML-RARα/PLZF-RARαnegative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | RARα not rearranged |
58/M3r | 46,XY | Normal pattern6-152 | PML-RARαnegative | RARα not rearranged |
59/M3, M3r | 46,XY | Normal pattern6-152 | PML-RARα/RARα-PML negative PLZF-RARα/RARα-PLZF negative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | ND |
60/M3, M3r | 45,XX,−2,−12,+13,add(17)(q2?) | ND | PML-RARα/PLZF-RARαnegative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | RARα not rearranged |
Case/M3 . | Karyotype . | PML-RARαFISH . | RT-PCR6-150 . | Southern blot6-151 . |
---|---|---|---|---|
56/M3r | 45,X,−Y,der(7)t(7;11) (q34;p15)ins(7;12)(q34;q24.3), der(11)t(7;11)/46,XY | Normal pattern6-152 | PML-RARα negative PLZF-RARα negative | RARα not rearranged |
57/M3r | 46,XX | ND | PML-RARα/PLZF-RARαnegative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | RARα not rearranged |
58/M3r | 46,XY | Normal pattern6-152 | PML-RARαnegative | RARα not rearranged |
59/M3, M3r | 46,XY | Normal pattern6-152 | PML-RARα/RARα-PML negative PLZF-RARα/RARα-PLZF negative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | ND |
60/M3, M3r | 45,XX,−2,−12,+13,add(17)(q2?) | ND | PML-RARα/PLZF-RARαnegative NPM-RARα/NuMA-RARα negative STAT5b-RARα negative | RARα not rearranged |
Abbreviations as indicated in Table 2.
RNA integrity was confirmed in each case by amplification ofRARα transcripts, as described previously.44
For Southern blot analyses, EcoRI- andHindIII-digested genomic DNA was hybridized with probes H18, X5′, and HB for cases 57, 58, and 60, whereas for case 56, DNA was additionally digested with BamHI andRARα probes PX20 and 8CPP were used. Mapping details of probes are provided in Figure 1.
FISH results indicate no fusion signals, no deletion ofRARα, and no translocation of RARα sequences to another chromosome.