Table 2.
Clonal abnormalities over time in patients with SDS
| Patient | Clonal abnormality | Outcome | MDS/AML karyotype |
|---|---|---|---|
| 1 | iso(7q) | unknown | |
| 2 | iso(7q), then separate add(mar), then separate i(X) | Transient clones | |
| 3 | iso(7q) | Transient clone | |
| 4 | iso(7q) | Persistent clone, then developed MDS | 46,XX,der(3;6)(q25;q13)[20]/45,dic(6;7)(q13;p11.2)[4]/46,XX[1] |
| 5 | iso(7q) | Unknown | |
| 6 | iso(7q) | Persistent clone | |
| 7 | iso(7q), separate del3q clone | Progressed to AML | Cytogenetics not available |
| 8 | iso(7q) | Persistent clone | |
| 9 | iso(X) and add X | Transient clones | |
| 10 | iso(X) | Persistent clone | |
| 11 | del(X) | Transient clone | |
| 12 | del(X) | Intermittent clone | |
| 13 | 46, XX [19]/27, XX, + mar[1] | unknown | |
| 14 | der(1) | Developed MDS | 46,XY+1,der(1;17)(q10;q10)[18] /46,XY[2] |
| 15 | inv(1), then add(7) | inv(1) was transient, add(7) unknown | |
| 16 | add(3q), del(8q) | Developed AML | 46,XX,add(3)(q27),del(8)(q13q22),der (10)t(10;15)(p11.2q15)[1], 43-44,der(2)t(2;12)(q33;q13), add(3)(q27),add(4)(q21),-5,-6,add(6)(q25),-7,del(8)(q13q22),-11,-12,der(18)t(11;19)(q13;p13.3)+2-3mar[6], 46,XX[13] |
| 17 | add(7q) | Transient clone | |
| 18 | add(7p) | unknown | |
| 19 | der(9) | Transient clone | |
| 20 | del20q | Persistent clone | |
| 21 | del20q | Transient clone | |
| 22 | add(Y), add(mar), del(20q) | add(Y) is constitutional, del20q persistent. Then developed MDS | 47,XYYc,del(20)(q11.2q13.2)[15]/47, XYYc |
| 23 | del20q | Persistent clone | |
| 24 | del20q | Persistent clone | |
| 25 | add (7p) then separate del(20q), and separate iso(7q), then aberrant complex karyotype in 1 cell (43,XY-1,+del(3)(p2?1),-5,-6,-7) | Both add(7p) and del(20q) disappeared, then progressed to MDS | 46, XY, del(20)(q11.2q13.1)[10]/46,XY,add(7)(q22)[7]/45, XY-7[3] |
| 26 | del20q | Persistent clone | |
| 27 | del20q | Intermittent clone | |
| 28 | del20q | Persistent clone | |
| 29 | del20q | Persistent clone | |
| 30 | del20q | Persistent clone | |
| 31 | del20q | Persistent clone | |
| 32 | del20q | Unknown | |
| 33 | del20q - developed 2 separate del20q clones (previously also developed iso7q) | Persistent clone, then developed MDS | 46XX,del(20)(q11.2q13.3)[9]/46,XX[11] |
| 34 | del20q | Transient clone | |
| 35 | del20q | Persistent clone | |
| 36 | del20q, separate del1p clone | Persistent clones | |
| 37 | del20q | Add 7p which disappeared, then del20q, then del12p developed and progressed to MDS | 46XY[5]/46, XY, del(12)(p11.1)[5]/35,idem,del(5)(q?22q?31),-7,del(9)(q21)[3]/44, idem, add(1)(p32),add(3)(p24),-5,-7,del(9)(q21)[7]/45, idem, add(1)(p32,add(3)(p24),-5,-7,del(9)(q21),=mar[4] |
| 38 | del20q, then separate iso7q | Unknown | |
| 39 | del20q | Unknown | |
| 40 | del20q | Persistent clone | |
| 41 | del20q | Persistent clone |