Table 2.
Characteristics in AML with prominent nuclear invagination (study group) and in controlgroup.
| Lack of CD34 | Lack of HLA-DR | Lack of CD7 | Normal karyotype* | FLT3-ITD | NPM1 mutations | |
|---|---|---|---|---|---|---|
| Study group (n=22) | ||||||
| 18/22 (82%) | 13/22 (59%) | 20/22 (91%) | 19/22 (86%) | 19/22 (86%) | 19/22 (86%) | |
| Control group (n=21) | ||||||
| 1/21 (5%) | 2/21 (10%) | 11/21 (52%) | 8/20 (40%) | 8/21 (38%) | 4/21 (19%) | |
| p value | <0.0001 | 0.001 | 0.007 | 0.003 | 0.002 | <0.0001 |
Cases of AML with prominent nuclear invaginations (so-called cuplike nuclei) were significantly associated with high frequency of NPM1 and FLT3 mutations, normal cytogenetics, and lack of expression of CD34, HLA-DR and CD7.
The cytogenetic abnormalities in various cases:
1) Study group (with cuplike nuclei) subdivided into:
a) Cases with mutated NPM1 and FLT3-ITD: (n=17):
15 normal cytogenetics
47,XX,+8[15]/ 46,XX[5]
46,XX,t(2;5)(p15;q35)[17]/46,XX[3]
b) Cases with mutated NPM1, wild type FLT3, and normal cytogenetics (n=2)
c) Cases with unmutated NPM1 and FLT3-ITD: (n=2) :
1 normal cytogenetics
46,XX,-16,add(21)(q22),+der(21)t(1;21)(q21;q22)[20]
d)1 case with unmutated NPM1, wild type FLT3, and normal cytogenetics
2) Control group subdivided into:
a) Cases with mutated NPM1 (n=4):
3 normal cytogenetics
1 case with 47,XX,add(2)(q33),+4[20]
b) Cases with unmutated NPM1 (n=17):
5 cases with normal cytogenetics
1 case with no analyzable metaphases
11 cases with abnormal cytogenetics as listed below:
41-45,XX,del(1)(p13p31),t(3;5)(q25;q13),-7,add(11)(p15),-12,der(16), t(16;17)(q14;q21), -18,+21,-22,+1 -2mar[cp19]/ 46,XX[1]
44,XY,add(3)(p11),-5,add(8)(p11),-11,-17,-21,+2mar[14]/42-44,idem,del(17)(p11.2)[cp6]
45,XX,del(5)(q23q32),-7[23]/45,XX,del(5)(q23q32),del(6)(q21),-7[3]
47,XY,+8[4]/49,XY,+8,+10,+22[16]
48,XX,add(6)(q27),+add(6)(q27),+21[20]
45,XY,+2,-5,del(7)(q11.2),add(8)(p21),idic(11)(p11.2),add(15)(p11),-17[4]/46,XY,+2, -5,del(7)(q11.2),add(8)(p21),idic(11)(p11.2),add(15)(p11),-17,+mar[8]/46,XY[8]
47,XY,+8[20]
47,XX,+8[19]
49-52,XX,-3,-4,-5,-9,+19,-20,+6-9 amr[CP19]/46XX[1]
48,XX,+4,+14[19]
46,XY,del(2)(p14p23),del(3)(p21p22)[9]