Mutational analysis of IgVH, BCL-6, PIM-1, PAX-5, RhoH/TTF, and c-MYC in AIDS-NHL
. | . | IgV gene analysis* . | . | Mutations (position)† . | . | . | . | . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case . | Histology . | VH family (gene) . | % homology . | BCL-6 . | PIM-1 . | PAX-5 . | RhoH/TTF . | c-MYC . | |||||
| 110 | AIDS-DLBCL | VH4 (DP-63) | 77.4 | 440T>G, 476C>G, 480C>T, 822A>C | 1916G>A | 1018G>C, 1400G>A | ΔGTTG (604-607) | — | |||||
| 112 | AIDS-DLBCL | VH4 (DP-63) | 90.0 | 480C>G | — | — | — | — | |||||
| 120 | AIDS-DLBCL | NA | NA | 528A>G, ΔTTCT (784-787) | 1363C>A | Δ199 bp (1069-1267) | — | — | |||||
| 568 | AIDS-DLBCL | NA | NA | — | — | — | — | 4524C>A, 4537G>T, 4547C>G, 4595C>G, 4600A>C, 4606A>G, 4619G>T, 4623C>G, 4814G>A, 4832G>C, 4902A>G, 4975A>T, 5009C>A | |||||
| 1001 | AIDS-DLBCL | NA | NA | — | — | — | 819A>T, 820C>T, 898A>C | 2778C>T | |||||
| 1138 | AIDS-DLBCL | VH2 (S12-9) | 97.8 | — | 1764G>A, 1765G>C | — | — | 4996G>T | |||||
| 1139 | AIDS-DLBCL | NA | NA | 419T>A, 426C>A, 504G>A, 602C>A, 679G>A | — | — | — | — | |||||
| 1902 | AIDS-DLBCL | VH1 (2M27) | 100.0 | — | — | — | — | — | |||||
| 1904 | AIDS-DLBCL | NA | NA | — | — | — | — | — | |||||
| 1905 | AIDS-DLBCL | NA | NA | 480C>G, 610A>T | — | — | — | ‡ | |||||
| 2378 | AIDS-DLBCL | VH3 (DP-48) | 97.3 | 886C>T | 1720C>T, 1721C>G | — | — | 4686C>T, 4689C>T | |||||
| 2410 | AIDS-DLBCL | VH4 (DP-63) | 84.3 | 480C>G, 534G>A, 538A>T, 789C>G | — | 904G>A | — | — | |||||
| 2413 | AIDS-DLBCL | VH1 (DP-75) | 95.3 | 734G>T, 745C>T | — | — | — | — | |||||
| 2414 | AIDS-DLBCL | NA | NA | ΔCGCGC (764-768) | — | — | ΔGTA (1026-1028), 1034G>C | — | |||||
| 2768 | AIDS-DLBCL | VH4 (V4-34) | 93.7 | — | — | — | — | — | |||||
| 2771 | AIDS-DLBCL | VH4 (DP64) | 85.6 | 602C>T, 686C>T, 759G>C, 781T>C, ΔT837, 876C>G, 921C>G, 955T>C, 976G>A, 1024T>C | — | 1324A>T | 448C>T, 558T>C, 694G>A, 783T>C, 784C>T, 945C>A, 987T>C | — | |||||
| 2772 | AIDS-DLBCL | VH4 (DP63) | 86.8 | 780C>T | — | — | — | 2594G>A | |||||
| 2790 | AIDS-DLBCL | NA | NA | — | — | — | — | — | |||||
| 642 | AIDS-BL | VH2 (VII-5) | 94.7 | 480C>T, 518C>A | — | — | — | ‡ | |||||
| 645 | AIDS-BL | NA | NA | — | — | Δ25 bp (805-829) | 557T>G, 563A>G, 638C>T, 643A>G | ‡ | |||||
| 1142 | AIDS-BL | VH4 (DP-79) | 85.1 | +G707, ΔT1099 | — | — | — | ‡ | |||||
| 1143 | AIDS-BL | VH3 (DP-47) | 85.4 | 706T>C, 718T>A, 757G>C | — | — | — | ‡ | |||||
| 1220 | AIDS-BL | VH4 (V4-34) | 96.7 | 563T>G, 836G>A | — | 1436C>G | Δ31 bp (418-448), 987T>C | ‡ | |||||
| 1246 | AIDS-BL | NA | NA | — | — | — | — | ‡ | |||||
| 1248 | AIDS-BL | VH4 (DP-66) | 91.4 | — | 1496G>A | — | — | ‡ | |||||
| 1249 | AIDS-BL | NA | NA | — | — | — | — | ‡ | |||||
| 1907 | AIDS-BL | VH3 (DP-33) | 93.0 | — | — | — | — | ‡ | |||||
| 2106 | AIDS-BL | NA | NA | — | — | 1394C>T | — | ‡ | |||||
| 2415 | AIDS-BL | VH4 (DP-63) | 87.8 | 563T>C | — | — | — | ‡ | |||||
| HBL-6 | AIDS-PEL | VH5 (DP-73) | 94.3 | 821C>G, 1085T>G | — | — | 658A>G, 854A>G | — | |||||
| BC-2 | AIDS-PEL | VH3 (3-73) | 94.0 | 605T>C | — | 1436C>T | — | — | |||||
| BCBL-1 | AIDS-PEL | NA | NA | 843C>G, 850T>A | — | — | — | — | |||||
| CRO-AP/3 | AIDS-PEL | VH3 (DP-47) | 93.5 | 447T>C, 480C>T, 522T>C, 539C>G, 564T>C, 794G>A | — | — | 573G>A | — | |||||
| CRO-AP/5 | AIDS-PEL | NA | NA | 543T>C, 549T>A | — | — | — | 2678T>A, 2691G>A | |||||
| CRO-AP/6 | AIDS-PEL | VH4 (DP-79) | 94.3 | — | — | — | — | — | |||||
| 2254 | AIDS-PCNSL | VH3 (DP-47) | 93.9 | 480C>T, 538A>G | — | — | — | — | |||||
| 2255 | AIDS-PCNSL | VH6 (DP-74) | 91.3 | — | — | — | — | — | |||||
| 2256 | AIDS-PCNSL | VH4 (DP-63) | 78.8 | 489G>A, 497G>A, 499A>T, 549T>G, 554T>G, 567T>G, 569T>C, 623T>G, 783T>C, 809G>A, 821G>A, 918T>G, 957G>A, 971A>C, 1003G>A, 1029T>C | — | — | 456G>A, 652A>C, 669T>C, 748A>T, 757A>G | 4682G>A, 4698C>T, 4993A>G, 5027C>G | |||||
| 2257 | AIDS-PCNSL | VH4 (V4.38) | 91.1 | 445C>G, 500T>A | — | — | — | — | |||||
. | . | IgV gene analysis* . | . | Mutations (position)† . | . | . | . | . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case . | Histology . | VH family (gene) . | % homology . | BCL-6 . | PIM-1 . | PAX-5 . | RhoH/TTF . | c-MYC . | |||||
| 110 | AIDS-DLBCL | VH4 (DP-63) | 77.4 | 440T>G, 476C>G, 480C>T, 822A>C | 1916G>A | 1018G>C, 1400G>A | ΔGTTG (604-607) | — | |||||
| 112 | AIDS-DLBCL | VH4 (DP-63) | 90.0 | 480C>G | — | — | — | — | |||||
| 120 | AIDS-DLBCL | NA | NA | 528A>G, ΔTTCT (784-787) | 1363C>A | Δ199 bp (1069-1267) | — | — | |||||
| 568 | AIDS-DLBCL | NA | NA | — | — | — | — | 4524C>A, 4537G>T, 4547C>G, 4595C>G, 4600A>C, 4606A>G, 4619G>T, 4623C>G, 4814G>A, 4832G>C, 4902A>G, 4975A>T, 5009C>A | |||||
| 1001 | AIDS-DLBCL | NA | NA | — | — | — | 819A>T, 820C>T, 898A>C | 2778C>T | |||||
| 1138 | AIDS-DLBCL | VH2 (S12-9) | 97.8 | — | 1764G>A, 1765G>C | — | — | 4996G>T | |||||
| 1139 | AIDS-DLBCL | NA | NA | 419T>A, 426C>A, 504G>A, 602C>A, 679G>A | — | — | — | — | |||||
| 1902 | AIDS-DLBCL | VH1 (2M27) | 100.0 | — | — | — | — | — | |||||
| 1904 | AIDS-DLBCL | NA | NA | — | — | — | — | — | |||||
| 1905 | AIDS-DLBCL | NA | NA | 480C>G, 610A>T | — | — | — | ‡ | |||||
| 2378 | AIDS-DLBCL | VH3 (DP-48) | 97.3 | 886C>T | 1720C>T, 1721C>G | — | — | 4686C>T, 4689C>T | |||||
| 2410 | AIDS-DLBCL | VH4 (DP-63) | 84.3 | 480C>G, 534G>A, 538A>T, 789C>G | — | 904G>A | — | — | |||||
| 2413 | AIDS-DLBCL | VH1 (DP-75) | 95.3 | 734G>T, 745C>T | — | — | — | — | |||||
| 2414 | AIDS-DLBCL | NA | NA | ΔCGCGC (764-768) | — | — | ΔGTA (1026-1028), 1034G>C | — | |||||
| 2768 | AIDS-DLBCL | VH4 (V4-34) | 93.7 | — | — | — | — | — | |||||
| 2771 | AIDS-DLBCL | VH4 (DP64) | 85.6 | 602C>T, 686C>T, 759G>C, 781T>C, ΔT837, 876C>G, 921C>G, 955T>C, 976G>A, 1024T>C | — | 1324A>T | 448C>T, 558T>C, 694G>A, 783T>C, 784C>T, 945C>A, 987T>C | — | |||||
| 2772 | AIDS-DLBCL | VH4 (DP63) | 86.8 | 780C>T | — | — | — | 2594G>A | |||||
| 2790 | AIDS-DLBCL | NA | NA | — | — | — | — | — | |||||
| 642 | AIDS-BL | VH2 (VII-5) | 94.7 | 480C>T, 518C>A | — | — | — | ‡ | |||||
| 645 | AIDS-BL | NA | NA | — | — | Δ25 bp (805-829) | 557T>G, 563A>G, 638C>T, 643A>G | ‡ | |||||
| 1142 | AIDS-BL | VH4 (DP-79) | 85.1 | +G707, ΔT1099 | — | — | — | ‡ | |||||
| 1143 | AIDS-BL | VH3 (DP-47) | 85.4 | 706T>C, 718T>A, 757G>C | — | — | — | ‡ | |||||
| 1220 | AIDS-BL | VH4 (V4-34) | 96.7 | 563T>G, 836G>A | — | 1436C>G | Δ31 bp (418-448), 987T>C | ‡ | |||||
| 1246 | AIDS-BL | NA | NA | — | — | — | — | ‡ | |||||
| 1248 | AIDS-BL | VH4 (DP-66) | 91.4 | — | 1496G>A | — | — | ‡ | |||||
| 1249 | AIDS-BL | NA | NA | — | — | — | — | ‡ | |||||
| 1907 | AIDS-BL | VH3 (DP-33) | 93.0 | — | — | — | — | ‡ | |||||
| 2106 | AIDS-BL | NA | NA | — | — | 1394C>T | — | ‡ | |||||
| 2415 | AIDS-BL | VH4 (DP-63) | 87.8 | 563T>C | — | — | — | ‡ | |||||
| HBL-6 | AIDS-PEL | VH5 (DP-73) | 94.3 | 821C>G, 1085T>G | — | — | 658A>G, 854A>G | — | |||||
| BC-2 | AIDS-PEL | VH3 (3-73) | 94.0 | 605T>C | — | 1436C>T | — | — | |||||
| BCBL-1 | AIDS-PEL | NA | NA | 843C>G, 850T>A | — | — | — | — | |||||
| CRO-AP/3 | AIDS-PEL | VH3 (DP-47) | 93.5 | 447T>C, 480C>T, 522T>C, 539C>G, 564T>C, 794G>A | — | — | 573G>A | — | |||||
| CRO-AP/5 | AIDS-PEL | NA | NA | 543T>C, 549T>A | — | — | — | 2678T>A, 2691G>A | |||||
| CRO-AP/6 | AIDS-PEL | VH4 (DP-79) | 94.3 | — | — | — | — | — | |||||
| 2254 | AIDS-PCNSL | VH3 (DP-47) | 93.9 | 480C>T, 538A>G | — | — | — | — | |||||
| 2255 | AIDS-PCNSL | VH6 (DP-74) | 91.3 | — | — | — | — | — | |||||
| 2256 | AIDS-PCNSL | VH4 (DP-63) | 78.8 | 489G>A, 497G>A, 499A>T, 549T>G, 554T>G, 567T>G, 569T>C, 623T>G, 783T>C, 809G>A, 821G>A, 918T>G, 957G>A, 971A>C, 1003G>A, 1029T>C | — | — | 456G>A, 652A>C, 669T>C, 748A>T, 757A>G | 4682G>A, 4698C>T, 4993A>G, 5027C>G | |||||
| 2257 | AIDS-PCNSL | VH4 (V4.38) | 91.1 | 445C>G, 500T>A | — | — | — | — | |||||
NA indicates not amplified; Δ, deletion; +, insertion; —, wild-type sequence.
Only in-frame rearrangements are listed, and the % homology to the closest germ line V gene is given. Rearrangements of cases 1138, 2768, and 2771 were found to harbor crippling mutations.
Numbering according to GenBank accession nos. AF386792 (PIM-1), AF386791 (PAX-5), AF386789 (Rho-H/TTF), X00364 (c-MYC), and AY189709 (BCL-6).
c-MYC mutations in all BLs and DLBCL case 1905 were excluded from analysis because these cases carry a t(8;14) translocation and the mutations were attributed to the juxtaposed immunoglobulin elements.