PML-RARα cases due to complex rearrangements
| Case no.3-150 . | Karyotype . | PML-RARαFISH . | PML-RARα RT-PCR . | |||
|---|---|---|---|---|---|---|
| Three-way translocations | ||||||
| 29/M3 | 46,XY,t(1;17;15)(p32;q21;q22)/46,idem,add(21)(p13)/46,XY | ND | Positive | |||
| 30/M3v | 46,XX,t(7;17;15)(q22;q21;q22) | Fusion on der(15) | ND | |||
| 31/M3v | 46,XY,t(6;17;15)(p21;q21;q22)/46,XY | ND | Positive (bcr1) | |||
| 32/M3, M3r | 46,XX,t(8;17;15)(q22;q21;q22),t(12;14)(q13;q32)/47,idem,+8/46,XX | ND | Positive (bcr1) | |||
| 33/M3v | 46,XX,t(13;17;15)(p13;q21;q22)/46,XX | ND | Positive (bcr3) | |||
| 34/M3 | 46,XX,t(5;17;15)(q14;q21;q22)/48,idem,+8,+21 | Fusion on der(15) | Positive (bcr1/2) | |||
| Simple variant cases | ||||||
| 35/M3 | 46,XX,t(5;15)(q13;q22),ins(15;17)(q22;q21q21)3-151/46,XX | Fusion on der(15)3-152 | Positive | |||
| 36/M3 | 46,XY,t(1;17)(p34;q21)3-151,ins(1;15)(p34;q22q22)3-151 | Fusion on der(1)3-153 | Positive (bcr1) | |||
| Very complex cases | ||||||
| 37/M3v | 46,XY,add(4)(p16),ins(15;17)(q22;q21q21)3-151,add(17)(q25)/46,XY | Fusion on der(15) | Positive (bcr3) | |||
| 38/M3v | 46,XY,t(5;15;17)(q35;q22;q23)3-151,ins(15;17)(q22;q21q21)3-151,der(20) t(8;20)(q12;p12) | Fusion on der(15)3-155 | Positive (bcr3) | |||
| 39/M3v | 46,XX,t(2;19;17;15)(p24;p13;q21;q22)3-151,ins(17;2)(q21;p16p24)3-151/ 47,idem,+8/46,XX | Fusion on der(15) | ND | |||
| 40/M3 | 46,XY,del(2)(p1?p2?),add(15)(q22),add(16)(q?1),add(17)(q?1)/ 47,idem,+8/46,XY | Fusion in nuclei | ND | |||
| 41/M3 | 47,XX,der(7)t(1;7)(q10;p10),+8,add(15)(q25),dup(17)(q11q21)3-151/46,XX | No fusion, but RARα x2 on dup(17q) | Positive (bcr1) | |||
| 42/M3 | 46,XX,der(6)t(6;17)(p23;q2?)3-151,−13,der(14)t(14;16)(p11;?),−16,hsr(17) (q21)3-151,der(21),+der(21)x2/46,XX | No fusion, but RARα x3 on hsr(17q) | Positive | |||
| Case no.3-150 . | Karyotype . | PML-RARαFISH . | PML-RARα RT-PCR . | |||
|---|---|---|---|---|---|---|
| Three-way translocations | ||||||
| 29/M3 | 46,XY,t(1;17;15)(p32;q21;q22)/46,idem,add(21)(p13)/46,XY | ND | Positive | |||
| 30/M3v | 46,XX,t(7;17;15)(q22;q21;q22) | Fusion on der(15) | ND | |||
| 31/M3v | 46,XY,t(6;17;15)(p21;q21;q22)/46,XY | ND | Positive (bcr1) | |||
| 32/M3, M3r | 46,XX,t(8;17;15)(q22;q21;q22),t(12;14)(q13;q32)/47,idem,+8/46,XX | ND | Positive (bcr1) | |||
| 33/M3v | 46,XX,t(13;17;15)(p13;q21;q22)/46,XX | ND | Positive (bcr3) | |||
| 34/M3 | 46,XX,t(5;17;15)(q14;q21;q22)/48,idem,+8,+21 | Fusion on der(15) | Positive (bcr1/2) | |||
| Simple variant cases | ||||||
| 35/M3 | 46,XX,t(5;15)(q13;q22),ins(15;17)(q22;q21q21)3-151/46,XX | Fusion on der(15)3-152 | Positive | |||
| 36/M3 | 46,XY,t(1;17)(p34;q21)3-151,ins(1;15)(p34;q22q22)3-151 | Fusion on der(1)3-153 | Positive (bcr1) | |||
| Very complex cases | ||||||
| 37/M3v | 46,XY,add(4)(p16),ins(15;17)(q22;q21q21)3-151,add(17)(q25)/46,XY | Fusion on der(15) | Positive (bcr3) | |||
| 38/M3v | 46,XY,t(5;15;17)(q35;q22;q23)3-151,ins(15;17)(q22;q21q21)3-151,der(20) t(8;20)(q12;p12) | Fusion on der(15)3-155 | Positive (bcr3) | |||
| 39/M3v | 46,XX,t(2;19;17;15)(p24;p13;q21;q22)3-151,ins(17;2)(q21;p16p24)3-151/ 47,idem,+8/46,XX | Fusion on der(15) | ND | |||
| 40/M3 | 46,XY,del(2)(p1?p2?),add(15)(q22),add(16)(q?1),add(17)(q?1)/ 47,idem,+8/46,XY | Fusion in nuclei | ND | |||
| 41/M3 | 47,XX,der(7)t(1;7)(q10;p10),+8,add(15)(q25),dup(17)(q11q21)3-151/46,XX | No fusion, but RARα x2 on dup(17q) | Positive (bcr1) | |||
| 42/M3 | 46,XX,der(6)t(6;17)(p23;q2?)3-151,−13,der(14)t(14;16)(p11;?),−16,hsr(17) (q21)3-151,der(21),+der(21)x2/46,XX | No fusion, but RARα x3 on hsr(17q) | Positive | |||
ND indicates not determined.
Morphology as follows: M3, hypergranular classic M3; M3v, hypogranular variant M3; M3r, M3 with more than 30% regular nuclei as defined in the accompanying manuscript by Sainty et al.1
Abnormalities demonstrated by FISH analyses.
der(15) consists of 15pter→15q22∷17q21∷5q13→5qter.
der(1) consists of 17qter→17q21∷15q22∷1p34→1qter.
der(15) consists of 15pter→15q22∷17q21∷5q35→5qter.