Table 2 Clinical-grade molecular and cytogenetic information for MPAL patients in this study. For each sample and corresponding sample ID, the diagnosis subtype, karyotype, fluorescence in situ hybridization (FISH) results, microarray single nucleotide polymorphism (SNP) copy number (CN) results, next-generation sequencing results, and FLT3-ITD/FLT3 mutation presence are listed
Sample ID | Diagnosis subtype | Karyotype | FISH results | Microarray SNP-CN analysis | Next-generation sequencing | FLT3-ITD/FLT3 mutation |
|---|---|---|---|---|---|---|
M1 | B/My MPAL | 46,XX,t(4;11)(q21;q23)[3]/46,sl,i(7)(q10)[9]/46,XX | 11q23 rearrangement | No copy number abnormalities detected | Not available | Negative |
M2 | T/My MPAL | 46,XY,t(3:15)(p21;q24)[8]/46,XY[22] | Negative | Gain 2q, Loss 3p containing SETD2, Loss 15q, Loss 13q, CN-LOH 11p | CN-LOH 11p | FLT3-ITD positive, allelic ratio 0.15 |
M3 | B/My MPAL | 46,XY,t(9;22)(q34;q11.2)[18]/44,sl,-3,-7[2] | t(9;22), monosomy 7 | Loss of 3 and 7 | Not available | Negative |
M4 | T/My MPAL | 44–47,XY,add(3)(p25),del(3)(q12),-4, + 6,add(6)(q13),der(8)t(8;11)(q24.1;q12),add(9)(p13),del(9)(p13),del(13)(q14),add(16)(p13.3), ish del(5)(q31.2q31.2)(EGR1-)[cp3]/46,XY[65] | Negative | Not available | NRAS (G12V), NOTCH1 (S2341fs), ETV6 (R369fs), MED12 (R621*) | Negative |
M5 | B/My MPAL | 46,XY [30] | Negative | Focal loss of portion of IKZF1 gene (7p), Focal gain of 11q with a breakpoint within DCUN1D5 gene | Not available | Negative |
M6 | T/My MPAL | 45 ~ 46,XY,del(3)(q25),add(5)(q31),del(6)(q21q25),t(10;11)(q26;q13),add(11)(p15),del(13)(q12q14),del(17)(p11.2), + mar[cp9]/46,XY[12] | Negative | Loss of 5q,1q, 2q, 6p, 11q containing BIRC3 and ATM, 13q containing RB1, and 17p containing TP53, and CN-LOH of 2q | KDM6A (Y1354*), RUNX1 (duplication exon 4), SUZ12 (H466fs*23), TP53 (G245S), JAK3 (L857P), ASXL1 (G646fs) | Negative |
M7 | B/My MPAL | 46,XY,del(2)(p11.2p13)[6]/46,XY[22] | Negative | Loss of 2p, loss of 9p contianing MLLT3 with a region of homozygous loss containing CDKN2A/B, CN-LOH of 9p containing AK3, JAK2, PAX5 | Not available | Negative |
SCPCS000220 | T/My MPAL | 46,XX,t(2;3)(p15;q26.2)[cp5]/46,idem,del(20)(q11.2q13.3)[cp5] | The t(2;3) observed here is consistent with a translocation involving MECOM (EVI1) | Not available | Not available | Negative |
SCPCS000230 | T/My MPAL | 46,XY,t(7;14)(q21;q32)[21] | t(7;14), Negative MLL, IGH, FGFR, and FIP1L gene rearrangement | Not available | Not available | Negative |