Molecular and Cytogenetic Characteristics of Patients With Morphologic APL Lacking the t(15; 17)
| Case No. . | Morphologic Features . | Cytogenetics . | Fusion Transcripts Detected by RT-PCR . | PML Breakpoint . | Rearrangement Detected by FISH . | PML Immunofluorescence . |
|---|---|---|---|---|---|---|
| 1 | Hypergranular M3 | 47,XX,del(5)(q2?3q34),+i(8)(q10) [3] | PML-RARα | bcr 3 | Interstitial insertion of RARα into PML on 15q | ND |
| 45,XX,del(5)(q2?3q34),add(7)(q32),−21 [2] | ||||||
| 92,XXXX,del(5)(q2?3q34) x2 [2] | ||||||
| 46,XX [2] | ||||||
| 2 | Hypergranular M3 | 46,XY | PML-RARα | bcr 1 | Interstitial insertion of RARα into PML on 15q | Microparticulate |
| 3 | Hypogranular M3 variant | 46,XY | PML-RARα | bcr 3 | Interstitial insertion of RARα into PML on 15q | ND |
| 4 | Hypergranular M3 | 46,XY,t(4; 16)(p14; q22),t(9; 12)(q22; q24),dir ins(17; 15)(q21; q15q22) [11] | PML-RARα | bcr 1 | Interstitial insertion of PML into RARα on 17q | ND |
| 46,idem,t(6; 8)(q13; q22) [10] | ||||||
| 46,idem,add(3q),t(6; 14),t(11; 22) [3] | ||||||
| 46,XY [6] | ||||||
| 5 | Hypergranular M3 | 46,XX,del(7)(q22q36) [5] | PML-RARα | bcr 3 | PML-RARα fusion detected by interphase FISH | Microparticulate partial PML and PIC 1 colocalization |
| 46,XX [5] | ||||||
| 6 | Hypergranular M3 | 46,XX | PML-RARα | bcr 3 | PML-RARα fusion detected by interphase FISH | Microparticulate |
| 7 | Hypergranular M3. Marrow replaced by abnormal promyelocytes with basophilic granules. No Auer rods observed. | 46,XY,t(11; 17)(q23; q12-21) [12] | PLZF-RARα, RARα-PLZF | NA | ND | Wild-type PML and PIC 1 colocalized |
| 46,XY [3] |
| Case No. . | Morphologic Features . | Cytogenetics . | Fusion Transcripts Detected by RT-PCR . | PML Breakpoint . | Rearrangement Detected by FISH . | PML Immunofluorescence . |
|---|---|---|---|---|---|---|
| 1 | Hypergranular M3 | 47,XX,del(5)(q2?3q34),+i(8)(q10) [3] | PML-RARα | bcr 3 | Interstitial insertion of RARα into PML on 15q | ND |
| 45,XX,del(5)(q2?3q34),add(7)(q32),−21 [2] | ||||||
| 92,XXXX,del(5)(q2?3q34) x2 [2] | ||||||
| 46,XX [2] | ||||||
| 2 | Hypergranular M3 | 46,XY | PML-RARα | bcr 1 | Interstitial insertion of RARα into PML on 15q | Microparticulate |
| 3 | Hypogranular M3 variant | 46,XY | PML-RARα | bcr 3 | Interstitial insertion of RARα into PML on 15q | ND |
| 4 | Hypergranular M3 | 46,XY,t(4; 16)(p14; q22),t(9; 12)(q22; q24),dir ins(17; 15)(q21; q15q22) [11] | PML-RARα | bcr 1 | Interstitial insertion of PML into RARα on 17q | ND |
| 46,idem,t(6; 8)(q13; q22) [10] | ||||||
| 46,idem,add(3q),t(6; 14),t(11; 22) [3] | ||||||
| 46,XY [6] | ||||||
| 5 | Hypergranular M3 | 46,XX,del(7)(q22q36) [5] | PML-RARα | bcr 3 | PML-RARα fusion detected by interphase FISH | Microparticulate partial PML and PIC 1 colocalization |
| 46,XX [5] | ||||||
| 6 | Hypergranular M3 | 46,XX | PML-RARα | bcr 3 | PML-RARα fusion detected by interphase FISH | Microparticulate |
| 7 | Hypergranular M3. Marrow replaced by abnormal promyelocytes with basophilic granules. No Auer rods observed. | 46,XY,t(11; 17)(q23; q12-21) [12] | PLZF-RARα, RARα-PLZF | NA | ND | Wild-type PML and PIC 1 colocalized |
| 46,XY [3] |
Abbreviations: ND, not determined; NA, not applicable.