TABLE 1.
Patient ID | Age (years) | Abnormal karyotype | Subgroup by | Mutations | Outcome | |||
---|---|---|---|---|---|---|---|---|
Cytogenetics | SNP array analysis | SNP array clustering | Decision tree node | |||||
26 910 | 43 | 54~56,XY,+1,add (2)(q3)x2,+3,add (3)(q2),+5,+6,?del (6)(q?2),+10,+11,+14,+?16,+18,+2mar,inc[cp8] | High hyperdiploid | LOH‐LCN | HoTr | HoTr | TP53 p.P151S | Died in CR1 within 1 year |
27 478 | 58 | 59,XX,+X,+1,+2,+4,+6,+10,+12,+18,+19,+21,+21,+22,+22[10] | High hyperdiploid | LOH‐LCN | HoTr | HoTr | TP53 p.R282W | Relapsed and died within 2 years |
29 491 | 51 | 58~59,XY,+?X,+1,+2,+6,add (8)(q2)x2,+10,+11,+12,+12,+14,idic (15)(p1),+18,add (18)(p1),+19,+21,+21,+22,+mar,inc[cp10] | High hyperdiploid | LOH‐LCN | HoTr | HoTr | TP53 p.K305* | CR1 (4 months) |
24 805 | 46 | 53,XX,+5,+6,+10,+11,+20,+21,i (21)(q10),+22[8] | High hyperdiploid | Inconclusive | HoTr | Non‐ploidy | Not done | Died in CR1 within 1 year |
27 058 | 7 | 64~66,XX,+X,+add (1)(p?2),+3,+4,+5,+6,+8,+10,+11,+12,+14,+14,+17,+18,+19,+20,+21,+21,+22,+mar[cp9] | Near triploid | HET‐CNG | High hyperdiploid | High hyperdiploid | Not done | CR1 (2 years) |
28 893 | 27 | 75~80,XY,+X,+Y,+Y,+Y,+1,+1,+2,+2,+3,+4,+5,+5,+6,+7,+8,+9,+10,+11,+12,+13,+14,+14,+15,+15,+16,+16,+17,+17,+18,+18,+19,+19,+20,+20,+21,+21,+22,+22[cp4] | Near triploid | Inconclusive | High hyperdiploid | HoTr | IGH‐CRLF2JAK2 p.T875NTP53 not mutated | CR1 (1 year) |
Note: Three cases with cytogenetic classification of HeH showed widespread LOH‐LCN, consistent with HoTr. This was further confirmed by TP53 mutations in all three cases. One case with a near triploid karyotype showed HET‐CNG on SNP array, consistent with HeH.
Abbreviations: HeH, high hyperdiploid; HET‐CNG, heterozygosity with copy number gains; HoTr, hypodiploid/near triploid; LCN, lower copy number; LOH, loss of heterozygosity.