Table 1. Clinical and molecular features of the 3 patients investigated by high-throughput sequencing.
| Pt No | Sample ID± | Tumor | Site Biopsy | Histological grade | Sample type | Time from diagnosis years (months) | Pattern of evolution | t(14;18) | IgH-VH3 DH-JH Rearrangememnts | % homology IgH-VH | No SHM IgH-VH |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | AD1548 | FL | Left axilla | Grade 1 | P/R2 | 4 (6 mo) | Direct | MBR | IGH3-23*01/*03/*04/*05 DH3-2*01/JH4*02 | 86.69 | 36 |
| R0012 | t-FL | Left axilla | DLBCL with small area FL grade | P | 8 (3 mo) | Direct | MBR | IGH3-23*01/*03/*04/*05 DH3-2*01/JH4*02 | 86.69 | 36 | |
| R1381 | FL | Left axilla | N.A. | P | 9 (4 mo) | Direct | MBR | IGH3-23*01/*03/*04/*05 DH3-2*01/JH4*02 | 86.69 | 36 | |
| R2005 | FL | Left axilla | Grade I | P | 9 (9 mo) | Direct | MBR | IGH3-23*01/*03/*04/*05 DH3-2*01/JH4*02 | 86.69 | 36 | |
| 1787 | t-FL | Left axilla | DLBCL | P | 10 (9 mo) | Direct | MBR | IGH3-23*01/*03/*04/*05 DH3-2*01/JH4*02 | 86.69 | 36 | |
| 2 | R1655 | FL | Left inguinal node | Grade 2 | P | 2 (8 mo) | Direct* | MBR-/mcr- | IGHV3-48*01 DH3-10*01/JH6*02 | 88.57 | 30 |
| R3878 | FL | Left inguinal node | Grade 1 | P | 4 | Direct* | MBR-/mcr- | IGHV3-48*01 DH3-10*01/JH6*02 | 88.57 | 30 | |
| 3 | R8403 | FL | Right axilla | Grade 3A | SD | 1 (4 mo) | Divergent/CPC | MBR | IGHV3-23*01/*04 DH4-23*04/JH6-02# | 89.11 | 27 |
| R9129 | FL | Right femoral node | Grade 1 | SD | 1 (9 mo) | Divergent/CPC | MBR | IGHV3-23*01/*04 DH3-3*01/JH5*01# | 83.47 | 41 |
Three patients, 2 showing a pattern compatible with a direct evolution and 1 consistent with the existence of a CPC, all having a IgH-VH3 family clonal rearrangement were included in the study.
Samples AD1548 and 1787 from pt1, shown in italic, were not included in the high-throughput sequencing analysis of IgH-VH but only in the SNP CNV study.
±The sample ID corresponds to the cell suspension vial ID or DNA identification number.
P = progression, R = relapse, SD = stable disease; subsequent number relate to episode e.g. R2 = second relapse
N.A. = not available SHM = somatic hypermutation
FL = Follicular Lymphoma; t-FL = transformed Follicular Lymphoma
MBR stands for Major Breakpoint Region and mcr for minor cluster region
* Pt2 has 2 different mutations at the same base (a pattern compatible with direct evolution)
# Samples R8403FL1 and R9129FL2 had 2 different DH/JH rearrangements but when aligned they showed the a similar CDR3 region, with additional 21 insertions in the sample R8403FL1 (see S6 Fig)