Sequence analysis of clonal immunoglobulin chain gene rearrangements of single Hodgkin and Reed-Sternberg cells
| Patient . | Ig Heavy Chain Gene . | Ig Light Chain Gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| No. of Sequences Studied . | Total No. of Somatic Mutations . | CDRII R/S . | FW3 R/S . | % of Somatic Mutations CDR2 + FW3 . | No. of Sequences Studied . | Total No. of Somatic Mutations . | CDRII R/S . | FW3 R/S . | % of Somatic Mutations CDR2 + FW3 . | |
| 1 | 283-a | 31 | 15/1 | 10/5 | 21 | 12 | 3 | 1/0 | 2/0 | 2.5 |
| 2 | 12 | 17 | 5/2 | 7/3 | 11.6 | 3 | 1 | 1/0 | 0 | 0 |
| 3 | 6 | 17 | 6/2 | 7/2 | 11.1 | — | — | — | — | — |
| 4 | 10 | 7 | 4/0 | 2/1 | 5 | 5 | 8 | 1/0 | 4/3 | 6.8 |
| 5 | 6 | 32 | 6/3 | 16/7 | 21.7 | na | na | na | na | na |
| 6 | 9 | 28 | 9/3 | 11/5 | 19.4 | — | — | — | — | — |
| 7 | 113-b | 28 | 12/1 | 8/7 | 19.4 | 6 | 15 | 0/2 | 9/4 | 12.8 |
| 83-c | 5 | 27 | 9/2 | 8/8 | 18.8 | 3 | 0 | 0 | 0 | 0 |
| 9 | 133-d | 38 | 12/2 | 17/7 | 26 | 2 | 0 | 0 | 0 | 0 |
| 10 | 4 | 35 | 9/6 | 14/6 | 23.8 | 43-i | nc | nc | 19/1 | ? |
| 11 | — | — | — | — | — | 5 | 0 | 0 | 0 | 0 |
| 12 | — | — | — | — | — | 5 | 0 | 0 | 0 | 0 |
| 13 | 8 | 24 | 9/1 | 6/8 | 16.3 | — | — | — | — | — |
| 14 | — | — | — | — | — | — | — | — | — | — |
| 15 | 12 | 14 | 4/2 | 5/3 | 9.7 | 83-j | 6 | 2/0 | 2/1 | 4.2 |
| 16 | 16 | 3-e | nc | nc | nc | — | — | — | — | — |
| 17 | 17 | 16 | 2/2 | 7/5 | 11.1 | 33-k | 8 | 1/3 | 4/0 | 6.6 |
| 18 | 7 | 14 | 5/2 | 2/5 | 9.5 | 2 | 6 | 3/1 | 2/0 | 5.1 |
| 19 | 53-f | 28 | 9/2 | 13/4 | 20.2 | 5 | 17 | 4/0 | 8/5 | 14.5 |
| 20 | 3 | 11 | 5/1 | 3/2 | 7.6 | 4 | 1 | 0 | 1/0 | 0 |
| 21 | 6 | 5 | 0/1 | 3/1 | 3.4 | 6 | 3 | 0 | 1/2 | 2.5 |
| 22 | 6 | 11 | 3/2 | 4/2 | 7.5 | 10 | 3 | 1/0 | 1/1 | 2.5 |
| 23 | 43-g | 15 | 2/1 | 7/5 | 10.2 | 4 | 3 | 1/0 | 2/0 | 2.5 |
| 24 | 73-h | 10 | 4/0 | 6/0 | 6.9 | — | — | — | — | — |
| 25 | — | — | — | — | — | 91 | 0 | 0 | 0 | 0 |
| Total/Average | 195 | 20.4 | 6.5/1.8 | 7.8/4.3 | 14.01 | 95 | 4.4 | 0.9/0.4 | 3.2/1.0 | 5 |
| Patient . | Ig Heavy Chain Gene . | Ig Light Chain Gene . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| No. of Sequences Studied . | Total No. of Somatic Mutations . | CDRII R/S . | FW3 R/S . | % of Somatic Mutations CDR2 + FW3 . | No. of Sequences Studied . | Total No. of Somatic Mutations . | CDRII R/S . | FW3 R/S . | % of Somatic Mutations CDR2 + FW3 . | |
| 1 | 283-a | 31 | 15/1 | 10/5 | 21 | 12 | 3 | 1/0 | 2/0 | 2.5 |
| 2 | 12 | 17 | 5/2 | 7/3 | 11.6 | 3 | 1 | 1/0 | 0 | 0 |
| 3 | 6 | 17 | 6/2 | 7/2 | 11.1 | — | — | — | — | — |
| 4 | 10 | 7 | 4/0 | 2/1 | 5 | 5 | 8 | 1/0 | 4/3 | 6.8 |
| 5 | 6 | 32 | 6/3 | 16/7 | 21.7 | na | na | na | na | na |
| 6 | 9 | 28 | 9/3 | 11/5 | 19.4 | — | — | — | — | — |
| 7 | 113-b | 28 | 12/1 | 8/7 | 19.4 | 6 | 15 | 0/2 | 9/4 | 12.8 |
| 83-c | 5 | 27 | 9/2 | 8/8 | 18.8 | 3 | 0 | 0 | 0 | 0 |
| 9 | 133-d | 38 | 12/2 | 17/7 | 26 | 2 | 0 | 0 | 0 | 0 |
| 10 | 4 | 35 | 9/6 | 14/6 | 23.8 | 43-i | nc | nc | 19/1 | ? |
| 11 | — | — | — | — | — | 5 | 0 | 0 | 0 | 0 |
| 12 | — | — | — | — | — | 5 | 0 | 0 | 0 | 0 |
| 13 | 8 | 24 | 9/1 | 6/8 | 16.3 | — | — | — | — | — |
| 14 | — | — | — | — | — | — | — | — | — | — |
| 15 | 12 | 14 | 4/2 | 5/3 | 9.7 | 83-j | 6 | 2/0 | 2/1 | 4.2 |
| 16 | 16 | 3-e | nc | nc | nc | — | — | — | — | — |
| 17 | 17 | 16 | 2/2 | 7/5 | 11.1 | 33-k | 8 | 1/3 | 4/0 | 6.6 |
| 18 | 7 | 14 | 5/2 | 2/5 | 9.5 | 2 | 6 | 3/1 | 2/0 | 5.1 |
| 19 | 53-f | 28 | 9/2 | 13/4 | 20.2 | 5 | 17 | 4/0 | 8/5 | 14.5 |
| 20 | 3 | 11 | 5/1 | 3/2 | 7.6 | 4 | 1 | 0 | 1/0 | 0 |
| 21 | 6 | 5 | 0/1 | 3/1 | 3.4 | 6 | 3 | 0 | 1/2 | 2.5 |
| 22 | 6 | 11 | 3/2 | 4/2 | 7.5 | 10 | 3 | 1/0 | 1/1 | 2.5 |
| 23 | 43-g | 15 | 2/1 | 7/5 | 10.2 | 4 | 3 | 1/0 | 2/0 | 2.5 |
| 24 | 73-h | 10 | 4/0 | 6/0 | 6.9 | — | — | — | — | — |
| 25 | — | — | — | — | — | 91 | 0 | 0 | 0 | 0 |
| Total/Average | 195 | 20.4 | 6.5/1.8 | 7.8/4.3 | 14.01 | 95 | 4.4 | 0.9/0.4 | 3.2/1.0 | 5 |
na indicates not analyzed; nc, not calculable; −, no immunoglobulin gene rearrangement found; 0, absence of somatic mutations.
Two HRS cells had an insertion of 22 base pair, causing a frame shift and a stop codon.
All HRS cell sequences harbor a 27 base pair insertion that contains a 19 base pair duplication of the neighboring CDR2.
VH: 3 base pair deletion in CDR2; VLκ: stop codon and frame shift in CDR3.
Deletion (2 base pairs) and insertion (1 base pair) in CDR2; deletion (1 base pair) in FW2 region; stop codon in CDR3.
The same 160 base pair deletion was detectable in all 16 HRS cells.
In 2 of 5 HRS cells a duplication of 98 base pairs was observed.
Two base pair insertion in the FW3 region.
Two base pair deletion in the FW3 region and two stop codons in the CDR2.
Deletion of 12 base pairs in CDR2.
Two of the eight VLκ gene rearrangements were unrelated and showed no somatic mutations.
Three base pair insertion and a stop codon in the FW3 region.
A stop codon in the FW3 region.