SNP-based chromosomal microarray characterization in a series of pure erythroid leukemia

Figures & data

Figure 1. SNP array findings, graphical chromosome overview.

Table 1. PEL case cohort, summary of genetic findings.

Case #	Cytogenetics	Cytoscan ISCN	Gene variants/allelic Freq
1	Karyotype failure No AML FISH	arr[GRCh37] (X,4,12,16,17,18)x1, 3q25.33q29(160098157_197737818)x1, 5p15.33q35.1(355018_171525805)x1, 7p14.1q36.3(43063246_159119707)x1, 9q21.11q34.3(70,984704_140716973)x1, 11p15.5q13.1(234172_65713004)x1, 11q13.1q25(65823243_134938470)x2 hmz, 15q21.2q21.3(51252609_56527828)x1, 15q22.2q22.31(61947693_64147050)x1, 19p13.3(2389731_4426119)x1, 19p13.3p13.11(6107003_17816,422)x3, 19p13.11q13.12(19740273_36739067)x1, 20q11.22q13.12(32781558_43480170)x1, 20q13.13q13.33(48535065_62881533)x1	TP53 p.L194H/57.4%
2	39-49,XY,+X,-Y,-2,-3,add(3)(p21),-4,-4,del(5)(q13q33), +7,add(7)(q22),-9,-10,add(10)(p11.2),add(11)(q11), +12,add(12)(q13)x2,-13,-15,add(15)(q24),-19,-21,+2-7r,+3-8mar[cp9]/46,XY[2] No AML FISH	arr[GRCh37] (Y)x1, (4,5,12,19,21)cx, 7q21.3q36.3(95611111_159119707)x1, 9p22.2p13.1(17448966_38787480)x1 multiple copy number changes involving chromosomes 4, 5, 12, 19, and 21 with loss of chromosome Y and single regions of loss within 7q and 9p	TP53 p.K132R/21.4% TP53 c.376-1G > A/23.9%
3	46,XY[20] Normal AML FISH	arr[GRCh37] 1p36.33p34.3(882803_36559621)x2 hmz, 11q13.1q25(65140209_134942626)x2 hmz	NPM1 p.W288Cfs/42.1% STAG2 p.Y893fs*2/89.9%
4	46,XX[20] AML FISH: three copies of ABL1 locus, loss of PML locus	arr[GRCh37] (7p)x1, (9)cth, (12q)x1, 13q12.11(21514150_23135814)x1, 16p13.3(85881_5542382)x1, (19)cth	TP53 p.R196*/25.5% TP53 p.F270L/26.6%
5	43,X,del(X)(p22.2),der(3)t(3;15)(p11;q11.1)-11,-13,-15, add(19)(p13.3),+add(19)(p13.3),-22[14]/46,XX[1].nuc ish(RPN1x3,MECOMx3)[25/200],(RPN1x2,MECOMx3) [7/200],(DEK,NUP214)x2[200],(RUNX1T1x2,RUNX1x3) [10/200,](RUNX1T1x3,RUNX1x2)[5/200],(RUNX1T1 x4,RUNX1x2)[9/200],(ABL1,BCR)x2[200],(KMT2Ax2) [200],(PM Lx3,RARAx2)[11/200],(CBFBx2)[200], (RARAx2)[200] AML FISH: Extra copies of loci involving RPN1/GATA2, MECOM, RUNX1, RUNX1T1, and PML	arr[GRCh37] (Xp,3p,11p)x1, 13q11q21.31(19436287_65002606)x1, (17p)x2 hmz, (19)cth	TP53 p.V216M/86.9%

ISCN : International System for Human Cytogenetic Nomenclature.

Data availability statement

All data generated or analyzed during this study are included in this published article, but may also be available from the corresponding author on reasonable request.