Age at diagnosis/gender | Risk group | WBC count at diagnosis (× 109/L) | Immunophenotype | Karyotype | BCR::ABL1-like rearrangement; Fusion partner (percentage of cells) | JAK2 exon 16 status | Response to induction | Clinical outcome | Status dead/alive |
---|---|---|---|---|---|---|---|---|---|
31/F | SR | 9,44 | B-common | 47,XX + mar[4]/46,XX[12] | CRLF2-r Fusion partner not identified (70% of cells) | Non-mutated | CR MRD negative | Relapse after maintenance therapy | Dead |
21/M | SR | 21,22 | B-common (expression of CRLF2: 79%) | ND | CRLF2-r CRLF2::IGH (80% of cells) | Non-mutated | CR MRD negative | Sudden death in CR1 during consolidation—pulmonary embolism | Dead |
55/M | HR | 200 | B-common (expression of CRLF2: 100%) | ND | CRLF2-r CRLF2::IGH (50% of cells) | Non-mutated | CR MRD negative | Death after induction—MODS, PRES | Dead |
32/M (19 at initial diagnosis) | HR | 14,5 | B-common (expression of CRLF2: 99%) | 45,XY,del(9)(p21),der(19)(:19p13.2 → 19q13.4::?),-20[9]/45,idem,der(17)(?::17p11.2 → 17qter)[2]/45,idem,der(3)(3pter → 3q13.3::?),-14, + der(19)(:19p13.2 → 19q13.4::?)[1]/45,idem,der(3)(3pter → 3q13.3::?)[1],44,idem,-14,der(17)( ?::17p11.2 → 17qter)[1]/44,idem,-14[1]/46,XY,der(3)(3pter → 3q13.3::?),del(9)(p21),add(14)(qter)[1]/46,XY,der(3)(3pter → 3q13.3::?)[1].nuc ish(CRLFx2)(5’CRLF sep 3’CRLFx1)[40/50],(IGHx2)(3’IGH sep 5’IGHx1)[98/100],(PBX1 × 2,HLFx2,E2Ax1)[43/50] | CRLF2-r CRLF2::IGH (75% of cells) | JAK2 c.2049A>C (p.R683S) | CR MRD negative | alloHSCT in CR1; relapse after 13 years; CRLF2-r diagnosed during relapse; CR2 MRD negative after reinduction | Alive |
32/M | HR | 127 | Pro-B | ND | ABL1-r Fusion partner not identified (15% of cells) | NA | CR MRD positive | alloHSCT in CR1; relapse after 3 months post-alloHSCT | Dead |
29/M | HR | 55,1 | B-common | 41–45,XY,-6[2],-18[3],-20[3],-21[2],-22[3][cp10]/46,XY[11] | ABL2-r Fusion partner not identified (30% of cells) | NA | CR MRD positive | alloHSCT in CR1 | Alive |