Clinical and cytogenetic features of 10 patients with hyperdiploid childhood pre-B ALL
Patient . | Sex/age, y . | FAB . | WBC, ×109/L . | Karyotype* . | Gains detected by QF-PCR† . |
|---|---|---|---|---|---|
| 1 | F/1 | L1 | 10 | 56,XX, +X, +4, +6, +8, +9, +14, +16, +17, +19, +21[10]/46,XX[15] | X, 4, 6, 10, 14, 17, 18, 21 |
| 2 | M/2 | L1 | 2 | 52-54,XY, +8, +9, +10, +11, +14, +17, +19, +21[cp13]/46,XY[8] | 6, 10, 14, 17, 21 |
| 3 | F/4 | L1 | 1 | 53-57,XX,del(6)(q23), +17, +19, +20, +21, +3-7mar[cp6]/46,XX[13] 48,XX, +19, +20[cp3]/46,XX[13] (6 weeks after dx; clinical/morphologic remission) | 4, 6, 14, 17, 18, 21 |
| 4 | F/2 | L2 | 17 | 56,XX, +X, +4, +6, +8, +10, +14, +17, +18, +20, +21[33]/46,XX[9] | X, 4, 6, 8, 10, 14, 17, 18, 21 |
| 5 | M/1 | L1/L2 | 3 | 55,XY, +X, +4, +6, +10, +14, +15, +17, +18, +21[4]/46,XY[16] | 4, 6, 10, 14, 17, 18, 21 |
| 6 | M/7 | L2 | 14 | 50-54,XY, +4, +6, +10, +14, +17, +18, +20, +20, +mar[cp 18] | 4, 6, 9, 10, 17, 21 |
| 7 | F/13 | L1 | 4 | 50-53,XX, +4, +6, del(6)(q23)×2, +add(17)(q25), +18, +21, +21, +2-3mar[cp22]/46,XX[5] 46,XX,add(1)(q32)[5]/46,XX[18] (2 years after dx; clinical/morphologic remission) | 4, 14, 17, 18, 21 |
| 8 | M/2 | L1 | 41 | 51-54,XY, +?inv(3), +4, +5, +6, +8, +11, +13, +14, +17, +21[cp 13]/46,XY[9] | 4, 6, 8, 14, 17, 18, 21 |
| 9 | M/2 | L1 | 2 | 55-57,XY, +4, +5, +6, +7, +8, +10, +12, +15, +17 +mar[cp24] | 4, 6, 8, 9, 10, 14, 17, 18, 21 |
| 10 | M/5 | L2 | 2 | 58,XY, +X, +4, +5, +6, +8, +10, +13, +14, +15, +17, +18, +21[12]/46,XY[11] | 4, 6, 8, 10, 17, 21 |
Patient . | Sex/age, y . | FAB . | WBC, ×109/L . | Karyotype* . | Gains detected by QF-PCR† . |
|---|---|---|---|---|---|
| 1 | F/1 | L1 | 10 | 56,XX, +X, +4, +6, +8, +9, +14, +16, +17, +19, +21[10]/46,XX[15] | X, 4, 6, 10, 14, 17, 18, 21 |
| 2 | M/2 | L1 | 2 | 52-54,XY, +8, +9, +10, +11, +14, +17, +19, +21[cp13]/46,XY[8] | 6, 10, 14, 17, 21 |
| 3 | F/4 | L1 | 1 | 53-57,XX,del(6)(q23), +17, +19, +20, +21, +3-7mar[cp6]/46,XX[13] 48,XX, +19, +20[cp3]/46,XX[13] (6 weeks after dx; clinical/morphologic remission) | 4, 6, 14, 17, 18, 21 |
| 4 | F/2 | L2 | 17 | 56,XX, +X, +4, +6, +8, +10, +14, +17, +18, +20, +21[33]/46,XX[9] | X, 4, 6, 8, 10, 14, 17, 18, 21 |
| 5 | M/1 | L1/L2 | 3 | 55,XY, +X, +4, +6, +10, +14, +15, +17, +18, +21[4]/46,XY[16] | 4, 6, 10, 14, 17, 18, 21 |
| 6 | M/7 | L2 | 14 | 50-54,XY, +4, +6, +10, +14, +17, +18, +20, +20, +mar[cp 18] | 4, 6, 9, 10, 17, 21 |
| 7 | F/13 | L1 | 4 | 50-53,XX, +4, +6, del(6)(q23)×2, +add(17)(q25), +18, +21, +21, +2-3mar[cp22]/46,XX[5] 46,XX,add(1)(q32)[5]/46,XX[18] (2 years after dx; clinical/morphologic remission) | 4, 14, 17, 18, 21 |
| 8 | M/2 | L1 | 41 | 51-54,XY, +?inv(3), +4, +5, +6, +8, +11, +13, +14, +17, +21[cp 13]/46,XY[9] | 4, 6, 8, 14, 17, 18, 21 |
| 9 | M/2 | L1 | 2 | 55-57,XY, +4, +5, +6, +7, +8, +10, +12, +15, +17 +mar[cp24] | 4, 6, 8, 9, 10, 14, 17, 18, 21 |
| 10 | M/5 | L2 | 2 | 58,XY, +X, +4, +5, +6, +8, +10, +13, +14, +15, +17, +18, +21[12]/46,XY[11] | 4, 6, 8, 10, 17, 21 |
FAB indicates French-American-British classification; WBC, white blood cell count; F, female; M, male; and dx, diagnosis.
Original karyotypes have previously been published in Andreasson et al.2 Data for patients 2, 3, and 5 to 10 have been revised. Trisomies identified with CGH only are indicated by underlining. Note that, from a formal point of view, the karyotype of patient 10 is hypotriploid and should be written as 58,XXY, -1, -2, -3, -7, -9, -11, -12, -16, -19, -20, -22[12]/46,XY[11]. Trisomies detected by G-banding and investigated (see next table footnote) but not identified by QF-PCR are shown in bold type.
See Table 3 for details. Because of equal allele dosage, tetrasomy 21 could not be distinguished from disomy 21 using QF-PCR. Note that chromosomes 1, 3, 16, 19, 20, and Y were not included in the QF-PCR analyses and that gains of the X chromosome were investigated in girls only. Gains identified by QF-PCR, but not cytogenetically, are shown in bold type.