D-FISH for Patients With Various Kinds of Ph Chromosomes and Normal Subjects Compared With Conventional Cytogenetics, S-FISH on Interphase and Metaphase, and Southern Blot Analysis
| Category . | No. . | Karyotype-150 . | Cyto Meta (%) . | S-FISH Nuclei (%) . | S-FISH Meta (%) . | Sth blt Mbcr . | D-FISH Nuclei (%) . | Atypical D-FISH Pattern . |
|---|---|---|---|---|---|---|---|---|
| t(9;22) only | 1 | 46,XY,t(9;22)[20] | 100 | 85.5 | 100.0 | + | 95.0 | |
| 2 | 46,XX,t(9;22)[20] | 100 | 74.0 | + | 97.5 | |||
| 3 | 46,XY,t(9;22)[20] | 100 | 70.5 | 95.0 | 98.5 | |||
| 4 | 46,XY,t(9;22)[25] | 100 | 76.5 | 97.5 | ||||
| 5 | 46,XY,t(9;22)[20] | 100 | 69.0 | 97.5 | 98.5 | |||
| t(9;22) + other | 6 | 46,XY,t(9;22)[18]/47,idem,+8[2] | 100 | 69.5 | 100.0 | + | 97.5 | |
| 7 | 47,XY,t(9;22),+Ph[20] | 100 | 80.0 | 100.0 | 95.5 | 1R1G1F | ||
| 8 | 46,XY,t(9;22)[28]/47,idem,+Ph[2] | 100 | 85.0 | 100.0 | 92.5 | |||
| 9 | 46,XY,t(9;22)[14]/47,idem,+8[5]/46,XY[1] | 95 | 76.5 | 95.0 | 76.5 | 1R1G1F | ||
| 10 | 46,XY,t(9;22)[19]/47,idem,+Ph[1] | 100 | 84.0 | 100.0 | 96.5 | |||
| Complex Ph | 11 | 46,XY,t(9;22;10)(q34;q11.2;q22)[19]/46,XY[1] | 95 | 81.5 | 100.0 | 99.5 | ||
| 12 | 46,XY,t(9;22;19)(q34;q11.2;q13.3)[20] | 100 | 91.5 | 100.0 | 94.0 | 1R2G1F | ||
| 13 | 46,XX,del(2)(q23q31),t(5;9;22)(q31;q34;q11.2)[25] | 100 | 65.0 | 97.0 | ||||
| 14 | 46,XY,t(3;17;9;22)(q26.2;q21;q34;q11.2)[20] | 100 | 69.0 | 100.0 | 98.5 | |||
| 15 | 46,XX,t(9;22;12)(q34;q11.2;q15)[20] | 100 | 84.0 | 100.0 | 96.5 | |||
| Simple Ph | 16 | 46,XY,der(22)t(19;22)(q13.3;q11.2), + other anomalies[20] | 100 | 68.0 | 95.0 | + | 91.5 | |
| 17 | 46,XY,t(3;22)(q29;q11.2)[20] | 100 | 83.5 | 100.0 | 95.5 | |||
| 18 | 46,XX,t(7;22)(p22;q11.2)[25] | 100 | 84.5 | 100.0 | 95.5 | |||
| 19 | 46,XX,t(1;22)(p26;q11.2)[2]/46,XX[18] | 10 | 8.5 | 12.5 | + | 12.0 | ||
| 20 | 46,XX,t(17;22)(q25;q11.2)[20] | 100 | 76.0 | 100.0 | 90.0 | |||
| Masked Ph | 21 | 46,XY[20] | 0 | 74.0 | 100.0 | + | 94.5 | 1R1G1F |
| 22 | 46,XX[20] | 0 | 75.5 | 97.5 | + | 93.0 | 2R1G1F | |
| 23 | 46,XY[20] | 0 | 54.0 | 58.8 | + | 10.5 | 1R2G1F-151 | |
| 24 | 46,XY[20] | 0 | 77.5 | 92.5 | + | 78.0 | 1R1G1F | |
| 25 | 46,XY[20] | 0 | 83.0 | 97.5 | + | 74.0 | 1R2G1F | |
| Ph+ ALL | 26 | 46,XY,t(9;22)[20] | 100 | 74.5 | 99.5 | |||
| 27 | 46,XX,t(9;22)[2]/46,XX[18] | 10 | 6.5 | 0-152 | − | 3.5 | ||
| 28 | 46,XY,t(9;22)[5]/46,XY[15] | 25 | 50.5 | 62.5 | 60.5 | |||
| 29 | 47,XX,t(9;22), + mar[7]/46,XX[3] | 70 | 12.5 | 0-152 | − | 95.0 | ||
| 30 | 49,XY,+4,i(8q)x2,t(9;22), + Ph[12]/46,XY[8] | 60 | 77.5-153 | − | 69.5 | |||
| Normal | 31 | 46,XX[20] | 0 | 0.0 | ||||
| 32 | 46,XX[20] | 0 | 0.0 | |||||
| 33 | 46,XX[20] | 0 | 0.0 | |||||
| 34 | 46,XX[20] | 0 | 0.0 | |||||
| 35 | 46,XX[20] | 0 | 0.0 |
| Category . | No. . | Karyotype-150 . | Cyto Meta (%) . | S-FISH Nuclei (%) . | S-FISH Meta (%) . | Sth blt Mbcr . | D-FISH Nuclei (%) . | Atypical D-FISH Pattern . |
|---|---|---|---|---|---|---|---|---|
| t(9;22) only | 1 | 46,XY,t(9;22)[20] | 100 | 85.5 | 100.0 | + | 95.0 | |
| 2 | 46,XX,t(9;22)[20] | 100 | 74.0 | + | 97.5 | |||
| 3 | 46,XY,t(9;22)[20] | 100 | 70.5 | 95.0 | 98.5 | |||
| 4 | 46,XY,t(9;22)[25] | 100 | 76.5 | 97.5 | ||||
| 5 | 46,XY,t(9;22)[20] | 100 | 69.0 | 97.5 | 98.5 | |||
| t(9;22) + other | 6 | 46,XY,t(9;22)[18]/47,idem,+8[2] | 100 | 69.5 | 100.0 | + | 97.5 | |
| 7 | 47,XY,t(9;22),+Ph[20] | 100 | 80.0 | 100.0 | 95.5 | 1R1G1F | ||
| 8 | 46,XY,t(9;22)[28]/47,idem,+Ph[2] | 100 | 85.0 | 100.0 | 92.5 | |||
| 9 | 46,XY,t(9;22)[14]/47,idem,+8[5]/46,XY[1] | 95 | 76.5 | 95.0 | 76.5 | 1R1G1F | ||
| 10 | 46,XY,t(9;22)[19]/47,idem,+Ph[1] | 100 | 84.0 | 100.0 | 96.5 | |||
| Complex Ph | 11 | 46,XY,t(9;22;10)(q34;q11.2;q22)[19]/46,XY[1] | 95 | 81.5 | 100.0 | 99.5 | ||
| 12 | 46,XY,t(9;22;19)(q34;q11.2;q13.3)[20] | 100 | 91.5 | 100.0 | 94.0 | 1R2G1F | ||
| 13 | 46,XX,del(2)(q23q31),t(5;9;22)(q31;q34;q11.2)[25] | 100 | 65.0 | 97.0 | ||||
| 14 | 46,XY,t(3;17;9;22)(q26.2;q21;q34;q11.2)[20] | 100 | 69.0 | 100.0 | 98.5 | |||
| 15 | 46,XX,t(9;22;12)(q34;q11.2;q15)[20] | 100 | 84.0 | 100.0 | 96.5 | |||
| Simple Ph | 16 | 46,XY,der(22)t(19;22)(q13.3;q11.2), + other anomalies[20] | 100 | 68.0 | 95.0 | + | 91.5 | |
| 17 | 46,XY,t(3;22)(q29;q11.2)[20] | 100 | 83.5 | 100.0 | 95.5 | |||
| 18 | 46,XX,t(7;22)(p22;q11.2)[25] | 100 | 84.5 | 100.0 | 95.5 | |||
| 19 | 46,XX,t(1;22)(p26;q11.2)[2]/46,XX[18] | 10 | 8.5 | 12.5 | + | 12.0 | ||
| 20 | 46,XX,t(17;22)(q25;q11.2)[20] | 100 | 76.0 | 100.0 | 90.0 | |||
| Masked Ph | 21 | 46,XY[20] | 0 | 74.0 | 100.0 | + | 94.5 | 1R1G1F |
| 22 | 46,XX[20] | 0 | 75.5 | 97.5 | + | 93.0 | 2R1G1F | |
| 23 | 46,XY[20] | 0 | 54.0 | 58.8 | + | 10.5 | 1R2G1F-151 | |
| 24 | 46,XY[20] | 0 | 77.5 | 92.5 | + | 78.0 | 1R1G1F | |
| 25 | 46,XY[20] | 0 | 83.0 | 97.5 | + | 74.0 | 1R2G1F | |
| Ph+ ALL | 26 | 46,XY,t(9;22)[20] | 100 | 74.5 | 99.5 | |||
| 27 | 46,XX,t(9;22)[2]/46,XX[18] | 10 | 6.5 | 0-152 | − | 3.5 | ||
| 28 | 46,XY,t(9;22)[5]/46,XY[15] | 25 | 50.5 | 62.5 | 60.5 | |||
| 29 | 47,XX,t(9;22), + mar[7]/46,XX[3] | 70 | 12.5 | 0-152 | − | 95.0 | ||
| 30 | 49,XY,+4,i(8q)x2,t(9;22), + Ph[12]/46,XY[8] | 60 | 77.5-153 | − | 69.5 | |||
| Normal | 31 | 46,XX[20] | 0 | 0.0 | ||||
| 32 | 46,XX[20] | 0 | 0.0 | |||||
| 33 | 46,XX[20] | 0 | 0.0 | |||||
| 34 | 46,XX[20] | 0 | 0.0 | |||||
| 35 | 46,XX[20] | 0 | 0.0 |
Abbreviations: Cyto, cytogenetic; Meta, metaphases; Sth blt Mbcr, Southern blot test for breakpoint in the major region of BCR; Ph, Ph chromosome; Ph+ ALL, patients with acute lymphocytic leukemia and metaphases with a t(9;22)(q34;q11.2).
Breakpoints for 9;22 translocations are q34 and q11.2 unless otherwise specified.
The discrepancy between S-FISH and D-FISH may be produced by different ABL probes.
Patient had a t(9;22) with a breakpoint in the BCR minor region that does not produce BCR/ABL fusion with a probe for the BCR major region.
Patient had a t(9;22)(q34;q11.2) with additional Ph chromosome and a minor BCR breakpoint. The high number of aberrant nuclei is attributable to cells with extra Ph chromosomes.