Table 2.
Cytogenetic risk assigned by conventional karyotype according to the IPSS-R classification vs. that obtained from the CNV plot generated by Haematology OncoKitDX.
Patient Number | Gender | Karyotype Identified by the Hospital | IPSS-R Cytogenetic Risk Groups | CNV Plot Identified by Haematology OncoKitDx | IPSS-R Cytogenetic Risk Groups | Hospital vs. Haematology OncoKitDx |
---|---|---|---|---|---|---|
1 | Male | 46,XY[20] | Good | 46, XY | Good | Match |
2 | Male | 46,XY[20] | Good | 46, XY | Good | Match |
3 | Male | 46,XY,t(3;12)(q26;p13),del(5)(q12q33),del(11)(q12)[20] | Poor | 46, XY: 5qdel, 11qdel | Intermediate | Disparity |
4 | Male | 45,XY,del(5)(q13q34),del(7)(q31),del(12)(p11),t(16;18)(q12;q11),−17[13]/46,XY,del(5)(q13q34)[7] | Very Poor | 45, XY: 5qdel, 7pdel, 7qdel, 17pdel, 18del | Very Poor | Match |
5 | Male | 46,XY[20] | Good | 46, XY | Good | Match |
6 | Female | 45,XX,−3,del(5)(q13q31),der(6)t(3;6)(q11;p25)[8] | Poor | 46, XX: 3pdel, 5qdel, 6pgain, 6pdel | Very Poor | Disparity |
7 | Female | 46,XX,del(5)(q13q31) | Good | 46, XX, 5qdel | Good | Match |
8 | Male | 46,XY[20] | Good | 46, XY | Good | Match |
9 | Male | 46,XY,del(20)(q11.21q11.31)[16]/46,XY[4] | Good | 46, XY; 20qdel | Good | Match |
10 | Female | 46,XX,del(5)(q13q31) | Good | 46, XX, 5qdel | Good | Match |
11 | Female | 45,XX,-7[12] | Poor | 45, XX: 7del | Poor | Match |
12 | Female | 45–48,XX,del(5)(q13q31),t(3;11)(p21,p15),+2mar[cp8]/45–48,XX,del(5),add(2)(q33),+1mar[cp4]/45–48,XX,del(5),+2,−3,+2mar[cp4] | Very Poor | 47, XX: 1pgain, 3pdel, 5qdel, 18qdel, 19gain, 20pgain, 20qdel | Very Poor | Match |
13 | Male | 46,XY,del(20)(q11.2q13.3)[18]/46,XY[2] | Good | 46, XY: 20qdel | Good | Match |
14 | Female | 47,XX,+8[14]/46,XX[6] | Intermediate | 47, XX: 8gain | Intermediate | Match |
15 | Male | 46,XY[20] | Good | 46, XY | Good | Match |
16 | Female | 46,XX,del(5)(q13q31)[16]/46,XX[4] | Good | 46, XX, 5qdel | Good | Match |
17 | Male | 46,XY,add(7)(p10),i(17)(q10)[20] | Intermediate | 46, XY: 1pdel, 3qgain, 7pdel, i17 | Very Poor | Disparity |