Table 1.
Cytogenetics at diagnostic and at the time of transformation in the 36 patients with splenic marginal zone lymphoma with transformation (SMZL‐T).
| Case | Sample | Sample time | Cytogenetics | CK | FISH |
|---|---|---|---|---|---|
| 1 | PB | DX | 46,XY,t(1;14)(p36;q32),t(1;14;16)(q11;q32;p12),del(7)(q31q36)[4]/46,idem, der(5)t(5;6)(q21;q25), der(6)ins(6;5)(q25; q21q35)[6]/46,idem,del(5)(q21q23)[4]/46,XY[6] | Yes | |
| 1 | PB/LN | T | (*PB) 47,XY,add(1)(q11),del(1)(p?32p?36),‐5,‐6,del(7)(q31q36),‐9, der(12)t(5;12)(q13;p11),add(14)(q32)x2,+4mar[9] | Yes | (LN) MYC, BCL2: Normal |
| 2 | PB | DX | 47,XY,del(6)(q23q24),del(7)(q31q32),del(13)(q12q14),+mar[cp19]/46,XY[1] | Yes | IGH‐CCND1: Normal |
| 3 | PB | T | 47,X,‐X,del(1)(p22),+add(3)(p13),+5,add(6)(q24),del(7)(q32q36),t(14;18)(q32;q21)[16] | Yes | |
| 4 | PB | DX | 46,XX,trp(1)(q23q32)[19]/46,XX[1] | ||
| 4 | Spleen | DX | 46,XX,trp(1)(q23q32),add(3)(p25),add(16)(q?23)[cp5] | Yes | |
| 4 | *PB | T |
*46,XX,trp(1)(q23q32),der(2),add(3)(p25),de(11)(q22q23),t(14;18)(q32;q21)[cp20] *46,XX,trp(1)(q23q32),der(2),add(3)(p25),de(11)(q22q23),t(14;18)(q32;q21)[cp20] |
Yes | |
| 5 | BM | DX | 46,XX(20) | ||
| 5 | LN/*PB | T | (PB) 46‐47,XX,?dup(1)(q21q32),del(7)(q21q31),add(8)(p23),add(8)(q24),+10,del(11)(q22q23),del(12)(q23q24),del(18)(p11),+mar1,+mar2[cp8]/46,XX,inv(17)(p11q21)[2] | Yes | (*PB) 7q31: IGH‐CCND1, MYC: Normal |
| 7 | PB | DX | 46,XX[20] | ||
| 7 | Spleen | DX | 46,XX,del(7)(q22q32)[1],add14(q32)[3][cp3]/46,XX[27] | 7q31:deletion | |
| 7 | *PB | T | *46,XX,?dup(3)(q26q26),del(7)(q22q32),del(11)(q22q23)[cp6]/46,XX[6] | Yes | |
| 7 | LN | T | 46,XX,?dup(3)(q26q26),del(7)(q22q32),del(11)(q22q23)[cp6]/46,XX[6] | Yes | 7q31: deletion; BCL2, BCL6, MYC: Normal |
| 8 | LN | T | 46,XY,del(7)(q22q32)[4]/48,XY,+3,del(3)(p12p14),+5,del(7)(q22q32)[2]/46,XY[14] | Yes | MYC: amplification; BCL2, BCL6: Normal |
| 9 | PB | DX | 48,XY,+3,del(3)(q23q27),i(6)(p10),+18[17]/46,XY[3] | Yes | |
| 9 | *PB | T | *48,XY,+3,del(3)(q23q27), i(6)(p10),add(12)(p13),del(14)(q24q32),+18,del(20)(q?11q?13)[15] | Yes | BCL2, BCL6, MYC: Normal |
| 10 | PB | DX | 46,XX[20] | ATM, 13q14·3.3, TP53: Normal; CEP12: trisomy | |
| 10 | *PB | T | *46,XX[20] | CEP12: trisomy 12; del 6q; BCL2, BCL6, MYC, ATM, TP53, 13q14·3, IGH‐CCND1, IGH‐BCL2: Normal | |
| 11 | PB | DX | 46,XY,del(20)(q12q13)[4]/46,XY[16] | 7q32·1: Normal | |
| 11 | LN/*BM | T | (*BM) 46,XY,del(20)(q12q13)[4]/46,XY[16] | (LN) MYC rearranged: BCL2, BCL6: gain/amplification | |
| 12 | *PB | T | *46,XY[20] | TP53: deletion; BCL2, BCL6, MYC, 7q31: Normal | |
| 13 | PB | DX | 46,XX,dup(1)(q21q24)[3]/47,idem,+add(3)(q26),add(14)(q32)[3]/46,XX[8] | Yes | IGH: 30% rearranged; IGH‐BCL2: normal |
| 13 | PB | T | *49‐50,XX,dup(1)(q21q24)x2,+3,+5,+7,+add(14)(q32)[cp7]/46,XX[7] | Yes | |
| 14 | *PB | T | *46,XY[20] | IGH‐CCND1: Normal | |
| 15 | PB | DX | 46,XX[20] | ||
| 15 | PB | T | *46,XX,?del(11)(q22q23)[3]/45,idem,‐X[1]/45,X,‐X[5]/46,XX[12] | Yes | ATM, TP53, CEP12, 13q14·3: Normal |
| 16 | PB | DX | 46,XY[18] | IGH‐CCND1, ATM, TP53, CEP12, 13q14·3: Normal | |
| 16 | *PB | T | *46,XY[18] | BCL2, BCL6, MYC: Normal | |
| 17 | PB | DX | 46,XX,i(3)(q10)[4]/46,XX[16] | ||
| 17 | *PB | T | *46,XX,i(3)(q10)[4]/46,XX[4] | ||
| 18 | PB | DX | 46,XX,i(3)(q10)[4]/46,XX[12] | ||
| 18 | *PB | T | *46,XX,i(3)(q10)[6]/46,XX[17] | BCL6: gain; 9p21·3: biallelic deletion; IGH‐CCND1 and IGH‐BCL2: Normal | |
| 19 | Spleen/ LN | T | ND | BCL2, BCL6, MYC: Normal | |
| 20 | PB | DX | 47,XX,del(7)(q21q32),+19[15]/46,XX[4] | 7q31: deletion | |
| 21 | Spleen | DX | 46,XX,del(6)(q21q27)[3]/46,XX[17] | 7q31, IGH‐CCND1, IGH‐BCL2: Normal | |
| 21 | LN | T | ND | MYC: gain, BCL6: gain/rearranged; IGH: rearranged, TP53: Normal | |
| 23 | LN | T | MYC: amplification; BCL6: Normal | ||
| 24 | PB | DX | 50,XY,+5,+12,+19,+22[5]/46,XY[15] | Yes | |
| 25 | LN | DX | 46,XY,del(7)(q21q36)[1]/46,XY[22] | 7q32: 47% deletion; IGH: Normal | |
| 25 | Spleen | T | ND | 7q32: 22% deletion | |
| 26 | Spleen | DX | ND | IGH‐CCND1, API‐MALT1 BCL2: Normal | |
| 26 | Spleen | T | ND | 7q31: deletion; BCL2, BCL6, MYC: Normal | |
| 27 | LN | T | BCL6, BCL2, MYC: Normal | ||
| 28 | BM | DX | IGH‐CCND1, ATM, TP53, CEP12, 13q14·3: Normal | ||
| 33 | PB | DX | 51,XX,+3,+8,+11,+18,+18[4]/51,XX,+3,+8,+der(11)add(11)(q23),+18,+18[4]/46,XX[29] | Yes | CCND1: gain; 7q31: Normal |
| 33 | PB | T | *50,X,+der(3),+8,+11,+18[2]/51,idem,+18[1]/46,XX[17] | Yes | BCL2, BCL6, MYC: amplified; 7q31, CCND1‐IGH, ATM, TP53, CEP12, 13q14·3: Normal |
| 35 | Spleen | T | BCL2, MYC: Normal |
BM, bone marrow; CK, complex karyotype; DX, diagnosis; LN, lymph node; ND, not done; PB, peripheral blood; T, transformation; WCP, whole‐chromosome painting.
7q deletions/alterations are highlighted in bold font.
*
Indicates that the karyotype or FISH have been performed at the time of transformation but in the non‐transformed sample.