Table 1.
Karyotypes and abnormal FISH results in SMZL
| Study case no. |
FISH results | FISH result interpretation |
FISH/karyotype concordant |
Karyotype |
|---|---|---|---|---|
| 1 | +CCND1 | +11 | ||
| 2 | del(7)(q32) | del(7)(q32) | NA | |
| 4 | Normal | Normal | Yes | 46,XX,del(11)(q13q23)[7]/46,XX[13] |
| 10 | del(7)(q32) | del(7)(q32) | Yes | 46,XX,del(7)(q22q34),der(14)t(3;14)(q12;q31)[2]/46,idem,dup(6)(p25p23)[9]/ 46,XX[9] |
| 11 | Normal | Normal | Yes | 46,XX[13] |
| 12 | +MALT1,+BCL2,+CEN18 | +18 | Yes | 47,XX,+18[6]/idem,del(13)(q12q14)/46,XX[10] |
| 14 | +BCL6,+CCND1,+API2,+CEN11, +MALT1,+BCL2,+CEN18,split CDK6 |
CDK6-?,+3, +11,+18 |
NA | |
| 17 | del(7)(q32),+del(7)(q32) | del(7)(q32), +del(7)(q32) |
NA | |
| 21 | del(7)(q32) | del(7)(q32) | Yes | 46,(XY)[9]/46,XY,der(7)t(6;7)(q25;q31.2),del(6)(q21q25)[7] |
| 22 | del(7)(q32) | del(7)(q32) | NA | |
| 25 | Normal | Normal | Yes | 46,XX[20] |
| 26 | IGH-CCND3 | IGH-CCND3 | NA | |
| 28 | IGH-BCL6 and IGH-MUM1 | IGH-BCL6 and IGH-MUM1 |
Yes | 46,XX,+X,t(3;14)(q27;q32),−6,t(6;14)(p25;q32), der(17)t(6;17)(p21;p13)[20] |
| 30 | del(7)(q32) | del(7)(q32) | NA | |
| 33 | +BCL6 | +3 | NA | |
| 38 | IGK-CDK6,+BCL2,+CEN18 | IGK-CDK6,+18 | NA | |
| 40 | Normal | Normal | Yes | 46,XY,t(5;6)(q11;q23)[13]/46,XY[4] |
| 42 | del(7)(q32) | del(7)(q32) | NA | |
| 43 | +MALT1,+BCL2,+CEN18 | +18 | NA | |
| 47 | del(7)(q32) | del(7)(q32) | NA | |
| 50 | Split IGH,+MALT1,+BCL2, +CEN18 |
IGH-?,+18 | NA | |
| 51 | +BCL2 | +18 | NA | |
| 52 | del(7)(q32) | del(7)(q32) | NA | |
| 53 | IGH-PAX5,+BCL6,+MALT1, +BCL2,+CEN18 |
IGH-PAX5,+3,+18 | Yes | 46,XY/48,XY,+3,t(9;14)(p13.2;q32),+18cp |
| 54 | Normal | Normal | Yes | 46,XX[20] |
| 56 | del(7)(q32) | del(7)(q32) | NA | |
| 58 | Normal | Normal | Yes | 46,XY |
| 60 | Split IGH,del(7)(q32) | IGH-?,del(7q) | Yes | 46,XX,t(1;15)(p11;q11),del(8)(q12),del(18q),del(14q),del(7)(q22q33) |
| 61 | Normal | Normal | Yesa | del(7)(q22q33) |
| 63 | del(7)(q32) | del(7)(q32) | Yes | 44,XY, −20, −21,t(1;3)(q21;q21),del(8)(q22qter), −7,+der7,t(7;17)(p12;p12),del(7)(q32) |
| 64 | Split IGH×2 | IGH-? X 2 | NA | |
| 65 | Normal | Normal | Yes | 85–90,XXY,1q−,t(1;2)(q21;q21)3p−,der(4),5p−,6q−, 9p−,dup(10q),der(14q),der(17q),der(20q) |
| 66 | Normal | Normal | Yes | dup(10q),der(14q),der(17q),der(20q) |
| 67 | Normal | Normal | Yes | 46XY |
| 72 | del(7)(q32) | del(7)(q32) | NA | |
| 79 | Split IGL | IGL-? | NA | |
| 83 | Normal | Normal | Yes | 46,XX |
| 84 | del(7)(q32) | del(7)(q32) | Yes | 47,XY,del(7q?),t(1;2)(q32;q32),add (17)(p13) |
| 89 | del(7)(q32) | del(7)(q32) | NA | |
| 90 | IGH-PAX5,+BCL2 | IGH-PAX5,+18 | NA | |
| 94 | Normal | Normal | Yes | 46,XX,t(2;17) |
| 96 | Normal | Normal | Yes | 46,XX,del(9)(p13p23) |
| 99 | Normal | Normal | Yes | 46,XY, t(2;6) cons/46XY,t(2;6) t(1;3)/46XY,t(2;6) t(13;21) |
| 100 | del(7)(q32) | del(7)(q32) | Yes | 46,XX,del(7)(q21q32) |
| 101 | Normal | Normal | Yes | 46,XX |
| 104 | IGH-BCL3 and split BCL6 | IGH-BCL3 and BCL6-? |
No | 46,XY |
| 105 | Normal | Normal | Yesb | 46,XX,+3, −Y |
| 109 | Normal | Normal | Yes | 49,XY,+3,+12,+19 |
| 110 | del(7)(q32) | del(7)(q32) | Yes | 46,XY,del(7)(q31;qter) |
| 120 | Split IGH | IGH-? | NA | |
| 122 | del(7)(q32) | del(7)(q32) | NA | |
| 124 | Split IGH | IGH-? | NA | |
| 131 | Split IGH | IGH-? | NA | |
| 135 | del(7)(q32) | del(7)(q32) | NA | |
| 138 | del(7)(q32) | del(7)(q32) | NA | |
| 145 | del(7)(q32) | del(7)(q32) | NA | |
| 146 | Split IGH | IGH-? | NA | |
| 147 | del(7)(q32) | del(7)(q32) | NA | |
| 155 | Multiple signals, all probes | Polyploidy | NA | |
| 161 | del(7)(q32) | del(7)(q32) | NA | |
| 172 | del(7)(q32) | del(7)(q32) | NA | |
| 184 | del(7)(q32) | del(7)(q32) | NA | |
| 191 | Split IGH | IGH-? | NA | |
| 198 | del(7)(q32) | del(7)(q32) | NA | |
| 210 | del(7)(q32) | del(7)(q32) | NA |
Abbreviations: BAP, breakapart; FISH, fluorescence in situ hybridization; SMZL, splenic marginal zone lymphoma.
Split IGH = separation of IGH BAP probe (1R1G1F pattern).
Split IGL = separation of IGL BAP probe (1R1G1F pattern).
Split BCL6 = separation of BCL6 BAP probe (1R1G1F pattern).
a
del(7q) FISH probe failed in this case.
b
BCL6 probe (at 3q27) not performed in this case.