Table 1 Longitudinal cytogenetic and molecular studies in our patient with rapidly evolving PMF
PMF diagnosis | Leukemic transformation | Post-consolidation therapy | *Monitoring +3 months | *Monitoring +14 months | |
|---|---|---|---|---|---|
Karyotype | 46,XY [20] | 46,XY,ins(6;22)(q23q11q12),del(22)(q11) [20] | 46,XY [20] | 46,XY [20] | 46,XY [20] |
JAK2 V617F allele burden | 60 % | 63 % | 70 % | n.d. | 36 % |
TET2 c.2732_2733insC, p.A912Cfs*12; .c.3781C>T, p.R1261C | yes | yes | yes | n.d. | n.d. |
SRSF2 c.284C>A p.P95H | yes | yes | yes | n.d. | n.d. |
SNPa | cnLOH 12q11-12q24.33 | cnLOH: 12q11-12q24.33 | n.d. | n.d. | n.d. |
LOSS: 22q11.1 | |||||
I-FISH: EWSR1-MYB | negative | positive | negative | negative | negative |
RT-PCR: EWSR1-MYB | negative | positive | negative | n.d. | n.d. |