Supplementary Table 1A Patient Characteristics: Comparison of Cases with Literature

Supplementary Table 1a Patient characteristics: comparison of cases with literature

MYC / BCL2c / Döhnerd
All / Del(17p) / Del(11q) / Trisomy 12 / Normal / Del(13q)
Total cases (n) / 30 / 40 / 325 / 23 / 56 / 47 / 57 / 117
Male/Female (n) / 22/8 / 28/12 / 199/126 / 17/6 / 38/18 / 26/21 / 28/29 / 70/47
Median age (years)
at diagnosis / 68 (33-86) / 63 (38-83) / 62 (30-87) / 63 / 58 / 63 / 61 / 63
Median age (years)
at genetic detection / 70 (34-86) / 67 (40-88) / NA / NA / NA / NA / NA / NA
Stage (n)
Binet A / 11 / 26 / 170 / 5 / 29 / 24 / 30 / 84
B / 11 / 6 / 102 / 10 / 19 / 16 / 17 / 24
C / 8 / 2 / 52 / 8 / 8 / 7 / 10 / 9
NA / 0 / 6 / 0 / 0 / 0 / 0 / 0 / 0
Rai 0 / 4 / 13 / 63 / 0 / 3 / 6 / 16 / 36
1 / 7 / 7 / 48 / 1 / 11 / 5 / 6 / 18
2 / 9 / 3 / 146 / 11 / 24 / 28 / 24 / 51
3 / 4 / 0 / 33 / 5 / 9 / 6 / 3 / 6
4 / 4 / 0 / 34 / 6 / 9 / 2 / 8 / 6
NA / 2 / 17 / 0 / 0 / 0 / 0 / 0 / 0
Therapy
Yes/no (n) / 28/1e / 22/12e / 248/77 / NA / NA / NA / NA / NA
Median TTT (months) / 5 (0.3-132) / 48 (0-204) / NA / 9 / 13 / 33 / 49 / 92
Response to
1st line therapy / NA / NA / NA / NA / NA / NA
- CR (n) / 3 / 2
- PR (n) / 13 / 12
- NR (n) / 8 / 3
- Intolerance (n) / 1 / 2
- NA (n) / 4 / 2
CD38 expression
Positive/negative (n) / 19/10e / 9/19e / NA / NA / NA / NA / NA / NA
IGHV mutational status
M/UM (n) / 11/6 e / 23/2 e / NA / NA / NA / NA / NA / NA
Laboratory data
Leukocytosis (x109/l) / 36.5 (8.2-317.4) / 20.1 (4.3-129.9) / NA / 48.3 / 43.9 / 32.2 / 30.9 / 27.7
Lymphocytosis (x109/l) / 31.8 (3.6-311.7) / 13.7 (1.4-123.4) / NA / NA / NA / NA / NA / NA
Hemoglobin (g/dl) / 13.0 (7.8-17.1) / 13.6 (10.6-15.8) / NA / 12.5 / 12.5 / 13.3 / 13.5 / 13.6
Platelets (x109/l) / 150 (49-368) / 200 (44-421) / NA / 148 / 159 / 192 / 174 / 191
LDH (IU/l) / 403 (169-3430) / 332 (126-558) / NA / 247 / 188 / 204 / 169 / 155
LDH elevated/normal (n) / 13/14e / 12/20e / NA / NA / NA / NA / NA / NA
Anemiaa yes/no (n) / 6/24 / 2/35e / NA / NA / NA / NA / NA / NA
Thrombocytopeniab
yes/no (n) / 4/26 / 3/33e / NA / NA / NA / NA / NA / NA
Cytogenetics
Complex karyotype
yes/no (n) / 16/14 / 5/35 / NA / NA / NA / NA / NA / NA
Additional translocations
yes/no (n) / 15/15 / 6/34 / NA / NA / NA / NA / NA / NA
Unbalanced/balanced
translocations (n) / 24/9 / 6/3 / NA / NA / NA / NA / NA / NA
FISH
Del(17p) (n) / 7 / 2 / 23 / 23 / 0 / 0 / 0 / 0
Del(11q) (n) / 8 / 0 / 56 / 0 / 56 / 0 / 0 / 0
Trisomy 12 (n) / 5 / 12 / 47 / 0 / 0 / 47 / 0 / 0
Normal (n) / 6 / 13 / 57 / 0 / 0 / 0 / 57 / 0
Del(13q) (n) / 5 / 10 / 117 / 0 / 0 / 0 / 0 / 117
Follow-up and OS
Follow-up from clinical
diagnosis (months) / 25 (0.5-255) / 92.5 (1-261) / 70 / NA / NA / NA / NA / NA
Follow-up from genetic
detection (months) / 14 (0-131) / 43.5 (1-161) / NA / NA / NA / NA / NA
5 year OS from clinical
diagnosis (%) / 57 / 90 / 108 / 32 / 79 / 114 / 111 / 133
5 year OS from genetic
detection (%) / 30 / 73 / NA / NA / NA / NA / NA / NA
Median OS from clinical
diagnosis (months) / 71 (0.5-255) / 182 (1-261) / 108 / 32 / 79 / 114 / 111 / 133
Median OS from genetic
detection (months) / 19 (0-131) / 106 (1-161) / NA / NA / NA / NA / NA / NA

N, number; NA, not available or not applicable; TTT, time to treatment; OS, overall survival; CR, complete response; PR, partial response; NR, no response (i.e. either stable, refractory or progressive disease); M, mutated; UM, unmutated

a Hemoglobin < 11 g/dl

b Platelets < 100 x 109/l

c Put, N. et al. Translocation t(14;18) is not associated with inferior outcome in chronic lymphocytic leukemia. Leukemia 2009; 23: 1201-4

d Döhner, H. et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000; 343: 1910-6

e Data were incomplete for some patients.

Supplementary Table 1b Patient characteristics: comparison of cases with a MYC-translocation and with either CLL or PLL

MYC
Cases with CLL / Cases with PLL
Total cases (n) / 21 / 9
Male/Female (n) / 15/6 / 7/2
Median age (years) / 69 (47-86) / 68 (33-73)
at diagnosis
Median age (years) / 70 (58-86) / 70 (34-80)
at genetic detection
Stage (n)
Binet A / 10 / 1
B / 5 / 6
C / 6 / 2
NA / 0 / 0
Rai 0 / 4 / 0
1 / 5 / 2
2 / 5 / 4
3 / 3 / 1
4 / 3 / 1
NA / 1 / 1
Therapy
Yes/no (n) / 19/1c / 9/0
Median TTT (months) / 11 (0.3-132) / 1.5 (0.5-12)
Response to
1st line therapy
- CR (n) / 0 / 3
- PR (n) / 11 / 2
- NR (n) / 6 / 2
- Intolerance (n) / 0 / 1
- NA (n) / 3 / 1
CD38 expression
Positive/negative (n) / 11/10 / 8/0c
IGHV mutational status
M/UM (n) / 10/5c / 1/1c
Laboratory data
Leukocytosis (x109/l) / 43.7 (8.2-317.4) / 30.0 (12.0-144.0)
Lymphocytosis (x109/l) / 39.8 (4.8-311.7) / 25.2 (3.6-128.2)
Hemoglobin (g/dl) / 13.1 (7.8-17.1) / 12.5 (9.3-14.6)
Platelets (x109/l) / 150 (49-368) / 168 (65-233)
LDH (IU/l) / 383 (169-1889) / 562 (191-3430)
LDH elevated/normal/NA (n) / 8/11c / 5/3c
Anemiaa yes/no (n) / 4/17 / 2/7
Thrombocytopeniab yes/no (n) / 3/18 / 1/8
Cytogenetics
Complex karyotype yes/no (n) / 9/12 / 7/2
Additional translocations yes/no (n) / 10/11 / 5/4
Unbalanced/balanced translocations (n) / 14/7 / 11/2
FISH
Del(17p) (n) / 3 / 4
Del(11q) (n) / 8 / 0
Trisomy 12 (n) / 2 / 3
Normal (n) / 4 / 2
Del(13q) (n) / 5 / 0
Follow-up and OS
Follow-up from clinical / 25 (0.5-255) / 18 (2-136)
diagnosis (months)
Follow-up from genetic / 14 (0.5-131) / 13 (0-80)
detection (months)
Median OS from clinical / 71 (0.5-255) / 110 (2-136)
diagnosis (months)
Median OS from genetic / 24 (0.5-131) / 19 (0-80)
detection (months)

a Hemoglobin < 11 g/dl

b Platelets < 100 x 109/l

c Data were incomplete for some patients.