Table 2.
Conventional cytogenetics, FISH, and SNP-array findings in cases of MS without blood or bone marrow involvement.
| Case | CC-Mass | CC-BM | FISH | Molecular Studies | CMA results |
|---|---|---|---|---|---|
| 1 | 46,XX,inv(16)(p13.1q2 2)[7]/47,idem,+22[7]/4 6,XX[7] | ND | ND | ND | CN-LOH 6p25.3-p21.32 Gain of chr22 |
| 2 | 47,XX,+8[20] | ND | +8 | FLT3 D835 mutation positive | Gain of chr8 CN-LOH chr13 |
| 3 | Inadequate | 46,XX[20] | Negative for t(8;21)-RUNX1/RUNX1T1 and inv(16)-CBFB | NPM1, FLT3-ITD mutation positive | CN-LOH chr13 |
| 4 | ND | ND | Negative for t(8;21)-RUNX1/RUNX1T1 and inv(16)-CBFB | Negative for NPM1, FLT3 BCR/ABL1 | CN-LOH 11pter-p11.2 |
| 5 | ND | 46,XY[20] | Negative for t(8;21)-RUNX1/RUNX1T1, 11(q23)-MLL, inv(16)-CBFB; positive for +19 | Negative for NPM1, FLT3 mutations | Gain of chr7, chr19 Loss 1p36.33-p36.22, 6q27, 13q12.3-q31.1 |
| 6 | ND | ND | ND | Negative for NPM1, FLT3 mutations | Loss 1p21.1-p12, 1q23.1-q23.3, 15q11.2-q14 Gain 1q21.1-q23.1, 1q23.3-q44, 2q12.1-q36.3, 16pter-p11.1, 19p13.3-p11 Gain chr12, Loss chr13 CN-LOH 8q21.11-q24.11 |
ND-not determined