Prognostically informative cytogenetic abnormalities most commonly encountered in patients with MPNs
| . | Essential thrombocythemia . | Polycythemia vera . | Primary myelofibrosis . | Post-PV/post–ET-MF . | Blast phase post-MPNs . |
|---|---|---|---|---|---|
| Prevalence, % | 1-7 | 10-20 | 35-50 | 40-80 | 80-90 |
| Chromosome abnormalities with prognostic significance | • “Intermediate risk”: - Sole del(20q) - Double abnormalities, including +1q (median OS, 86 months) • “High risk”: - Complex karyotype (median OS, 9 months) | • “Unfavorable karyo”: complex or single or 2 abnormalities, including +8, −7/7q−, i(17)q, −5/5q−, 12p−, inv(3), or 11q23 rear (included in DIPSS-plus) • “Favorable” karyo: normal karyotype, sole abnormalities of 20q−, 13q−, +9, chr 1 translocation/duplication, or sex chromosome abnormality including −Y • “VHR” karyo: single or multiple abnormalities of −7, inv (3), I (17q), 12p−, 11q−, and autosomal trisomies other than +8 or +9 • “High-risk” karyo: all abnormalities that are not VHR and favorable (included in MIPSS70/plus v2.0 and GIPSS scores) | • “Unfavorable” karyo: abnormalities other than isolated 13q− and 20q−, monosomy | • Complex karyo including more frequently −5/del(5q), −7/del(7q), −17/del(17p)/i(17q), and −18 |
| . | Essential thrombocythemia . | Polycythemia vera . | Primary myelofibrosis . | Post-PV/post–ET-MF . | Blast phase post-MPNs . |
|---|---|---|---|---|---|
| Prevalence, % | 1-7 | 10-20 | 35-50 | 40-80 | 80-90 |
| Chromosome abnormalities with prognostic significance | • “Intermediate risk”: - Sole del(20q) - Double abnormalities, including +1q (median OS, 86 months) • “High risk”: - Complex karyotype (median OS, 9 months) | • “Unfavorable karyo”: complex or single or 2 abnormalities, including +8, −7/7q−, i(17)q, −5/5q−, 12p−, inv(3), or 11q23 rear (included in DIPSS-plus) • “Favorable” karyo: normal karyotype, sole abnormalities of 20q−, 13q−, +9, chr 1 translocation/duplication, or sex chromosome abnormality including −Y • “VHR” karyo: single or multiple abnormalities of −7, inv (3), I (17q), 12p−, 11q−, and autosomal trisomies other than +8 or +9 • “High-risk” karyo: all abnormalities that are not VHR and favorable (included in MIPSS70/plus v2.0 and GIPSS scores) | • “Unfavorable” karyo: abnormalities other than isolated 13q− and 20q−, monosomy | • Complex karyo including more frequently −5/del(5q), −7/del(7q), −17/del(17p)/i(17q), and −18 |