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. 2021 May 17;60(9):604–615. doi: 10.1002/gcc.22956

TABLE 1.

Details of high hyperdiploid cases which clustered with low hypodiploid and near triploid cases or vice versa by unsupervised hierarchical clustering analysis of standardized whole chromosome log2 ratios

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.