Chromosomal, copy number, and loss of heterozygosity (including uniparental disomy) changes between diagnosis and relapse
| Patient . | Diagnosis . | Relapse . | ||
|---|---|---|---|---|
| Cytogenetics . | Mapping array . | Cytogenetics . | Mapping array . | |
| 1 | 46,XX | No abnormality | No sample | LOH whole 13 |
| 2 | No sample | Gained whole 6 | No sample | Gained whole 6 |
| 3 | 46,XX | No abnormality | 47,XX,+11/46,XX | Gained whole 11 |
| 4 | 46,XY,t(6;9)(p23;q34)[10] | No abnormality | 46,XY,t(6;9)(p23;q34)[4]/46,XY[6] | Segmental UPD13q (262590909-term) |
| 5 | 46,XY,t(2;14)(q21;q32)/46,XY | No abnormality | 46,XY,t(2;14)(q21;q32)[8]/46,XY[2] | No abnormality |
| 6 | 46,XX,inv(16)(p13.1q22)[10] | No abnormality | nuc ish(CBFBx2)(5′CBFB sep 3′CBFBx1)[82/100] | Gained whole 22 |
| 7 | 46,XY | Segmental UPD 2p (45892803-66988762) | 46,XY[47] | Segmental UPD 2p (45892803-66988762) |
| Segmental UPD 5q (109245567-132912666) | Segmental UPD 5q (109245567-132912666) | |||
| LOH whole 13 | ||||
| 8 | 46,XX,del(16)(q12.1)/46,XX | Segmental UPD 13q (19029353-term) Del 16q (29142199-85631136) | 46,XX,del(11)(q13q22),del(16)(q12.1) [2]/46,idem,t(4;6)(q35;q15)[8] | Del 4q (67619803-93329691) |
| Del 11q (85287757-115209411) | ||||
| Segmental UPD 13q (19029353-term) | ||||
| Del 16q (29142199-85631136) | ||||
| 9 | 46,XX[25] | No abnormality | 46,XX[25] | Segmental UPD whole 13 |
| 10 | 46,XX | No abnormality | 46,XX | Segmental UPD 13q (19029353-term) |
| 11 | 46,XY | No abnormality | 46,XY | No abnormality |
| 12 | 45,X,-Y,t(8;21)(q22;q22)[10] | Segmental UPD 11 (44160735-62518998) | 45,X,-Y,t(8;21)(q22;q22) | Del 2q (198963363-240642812) |
| Segmental UPD 11 (44160735-62518998) | ||||
| 13 | 46,XY,del(7)(q11q21)/46,XY | No abnormality | No sample | No abnormality |
| 14 | 46,XY | No abnormality | 46,XY | LOH whole 13 |
| 15 | 46,XY[20] | No abnormality | 47,XX,+8,add(9)(q34)[8]/46,XY[2] | No abnormality |
| 16 | 46,XX [25] | No abnormality | No sample | Segmental UPD 19q (20533429-term) |
| Gained whole 21 | ||||
| 17 | 47,XX,+8[10] | No abnormality | 47,XX,del(6)(q13q21),der(7)t(7;17)(q11.1;q11.2),+8,add(17)(q11.2), del(20)(q13.1q13.3 or q11.2q13.1)[5]/47,idem,del(2)(q13q2?)[5] | Del 6q (64252743-101001308) |
| Del 7q (69512516-term) | ||||
| Segmental UPD whole 13 | ||||
| Del 20q (40318090-110881790) | ||||
| 18 | 46,XY[20] | No abnormality | 46,XY[20] | No abnormality |
| 19 | 46,XY,t(6;9)(p23;q34)[6]/46,XY[55] | No abnormality | 46,XY,t(6;9)(p23;q34)[10] | Segmental UPD 13q (18482385-term) |
| 20 | 46,XY[20] | Gained 1p (term-59198211) | 46,XY[20] | No abnormality |
| 21 | 46,XY | No abnormality | 46,XY | Segmental UPD 4q (87522823-term) |
| 22 | 46,XY,t(8;9)(q24;q32)[4] 45,sl,-Y,der(9)add(9)(p13)t(8;9)[11]45,sdl1,add(14)(q32)[3] | Del 9p (19871864-25253918) | No sample | Del 9p (19871864-25253918) |
| 23 | No sample | No abnormality | No sample | No abnormality |
| 24 | 46,XX[20] | No abnormality | 46,XX,t(1;5)(q4;q11.2),?t(11;17) (q13;q11.2),del(12)(p11.2p13)[3]46,XX[15] | No abnormality |
| 25 | 46,XY | No abnormality | 46,XY | Segmental UPD 13q (20860773-term) |
| 26 | 49,XY,+5,+8,+19[9]46,XY[1] | Gained whole 5 | 49,XY,+5,+8,+19[1]50,idem+mar[2]46, | Del 1p (5708940-38792696) |
| Gained whole 8 | Y,der(X),t(X;13)(q26;q12), add (7)(p11.2),-13,+mar[4] | Gained 3p (125054444-term) | ||
| Del 7p (term-61521113) | ||||
| 27 | 47,XY,+8/46,XY | Gained whole 8 | No sample | Gained whole 8 |
| Patient . | Diagnosis . | Relapse . | ||
|---|---|---|---|---|
| Cytogenetics . | Mapping array . | Cytogenetics . | Mapping array . | |
| 1 | 46,XX | No abnormality | No sample | LOH whole 13 |
| 2 | No sample | Gained whole 6 | No sample | Gained whole 6 |
| 3 | 46,XX | No abnormality | 47,XX,+11/46,XX | Gained whole 11 |
| 4 | 46,XY,t(6;9)(p23;q34)[10] | No abnormality | 46,XY,t(6;9)(p23;q34)[4]/46,XY[6] | Segmental UPD13q (262590909-term) |
| 5 | 46,XY,t(2;14)(q21;q32)/46,XY | No abnormality | 46,XY,t(2;14)(q21;q32)[8]/46,XY[2] | No abnormality |
| 6 | 46,XX,inv(16)(p13.1q22)[10] | No abnormality | nuc ish(CBFBx2)(5′CBFB sep 3′CBFBx1)[82/100] | Gained whole 22 |
| 7 | 46,XY | Segmental UPD 2p (45892803-66988762) | 46,XY[47] | Segmental UPD 2p (45892803-66988762) |
| Segmental UPD 5q (109245567-132912666) | Segmental UPD 5q (109245567-132912666) | |||
| LOH whole 13 | ||||
| 8 | 46,XX,del(16)(q12.1)/46,XX | Segmental UPD 13q (19029353-term) Del 16q (29142199-85631136) | 46,XX,del(11)(q13q22),del(16)(q12.1) [2]/46,idem,t(4;6)(q35;q15)[8] | Del 4q (67619803-93329691) |
| Del 11q (85287757-115209411) | ||||
| Segmental UPD 13q (19029353-term) | ||||
| Del 16q (29142199-85631136) | ||||
| 9 | 46,XX[25] | No abnormality | 46,XX[25] | Segmental UPD whole 13 |
| 10 | 46,XX | No abnormality | 46,XX | Segmental UPD 13q (19029353-term) |
| 11 | 46,XY | No abnormality | 46,XY | No abnormality |
| 12 | 45,X,-Y,t(8;21)(q22;q22)[10] | Segmental UPD 11 (44160735-62518998) | 45,X,-Y,t(8;21)(q22;q22) | Del 2q (198963363-240642812) |
| Segmental UPD 11 (44160735-62518998) | ||||
| 13 | 46,XY,del(7)(q11q21)/46,XY | No abnormality | No sample | No abnormality |
| 14 | 46,XY | No abnormality | 46,XY | LOH whole 13 |
| 15 | 46,XY[20] | No abnormality | 47,XX,+8,add(9)(q34)[8]/46,XY[2] | No abnormality |
| 16 | 46,XX [25] | No abnormality | No sample | Segmental UPD 19q (20533429-term) |
| Gained whole 21 | ||||
| 17 | 47,XX,+8[10] | No abnormality | 47,XX,del(6)(q13q21),der(7)t(7;17)(q11.1;q11.2),+8,add(17)(q11.2), del(20)(q13.1q13.3 or q11.2q13.1)[5]/47,idem,del(2)(q13q2?)[5] | Del 6q (64252743-101001308) |
| Del 7q (69512516-term) | ||||
| Segmental UPD whole 13 | ||||
| Del 20q (40318090-110881790) | ||||
| 18 | 46,XY[20] | No abnormality | 46,XY[20] | No abnormality |
| 19 | 46,XY,t(6;9)(p23;q34)[6]/46,XY[55] | No abnormality | 46,XY,t(6;9)(p23;q34)[10] | Segmental UPD 13q (18482385-term) |
| 20 | 46,XY[20] | Gained 1p (term-59198211) | 46,XY[20] | No abnormality |
| 21 | 46,XY | No abnormality | 46,XY | Segmental UPD 4q (87522823-term) |
| 22 | 46,XY,t(8;9)(q24;q32)[4] 45,sl,-Y,der(9)add(9)(p13)t(8;9)[11]45,sdl1,add(14)(q32)[3] | Del 9p (19871864-25253918) | No sample | Del 9p (19871864-25253918) |
| 23 | No sample | No abnormality | No sample | No abnormality |
| 24 | 46,XX[20] | No abnormality | 46,XX,t(1;5)(q4;q11.2),?t(11;17) (q13;q11.2),del(12)(p11.2p13)[3]46,XX[15] | No abnormality |
| 25 | 46,XY | No abnormality | 46,XY | Segmental UPD 13q (20860773-term) |
| 26 | 49,XY,+5,+8,+19[9]46,XY[1] | Gained whole 5 | 49,XY,+5,+8,+19[1]50,idem+mar[2]46, | Del 1p (5708940-38792696) |
| Gained whole 8 | Y,der(X),t(X;13)(q26;q12), add (7)(p11.2),-13,+mar[4] | Gained 3p (125054444-term) | ||
| Del 7p (term-61521113) | ||||
| 27 | 47,XY,+8/46,XY | Gained whole 8 | No sample | Gained whole 8 |
Each change is marked in bold. Regions are delineated by chromosome band or nucleotide position.
LOH indicates loss of heterozygosity; and UPD, uniparental disomy.