Table 1.

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. 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.

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