TABLE 1.
Gene mutations and clinical characteristics of 12 patients with CNL with PCD or LPD
| Case | Age (years)/Sex | Types of PCD or LPD | Gene mutations and detection methods | Disease progression and reference |
|---|---|---|---|---|
| 1 | 81/M | FL |
JAK2 V617F (+) CSF3R, SETBP1 (‐) (PCR, Sanger sequencing) |
‐; 1 |
| 2 | 81/M | IgG‐κ type SMM |
JAK2 V617F (+) BCR‐ABL (‐) (HRM, Sanger sequencing) |
‐; 2 |
| 3 | 57/F | IgG‐κ type MGUS |
CSF3R T618I, CSF3R S783fs (+) JAK2 V617F, BCR‐ABL, FGFR1, PDGFRA, PDGFRB (‐) (FISH, Sanger sequencing) |
‐; 3 |
| 4 | 69/M | IgA‐κ type MGUS |
SETBP1 D868N (+) BCR‐ABL, CSF3R, JAK2 (‐) (PCR, Sanger sequencing) |
Blast crisis 4 |
| 5 | 70/M | MGUS |
SETBP1 G870S (+) BCR‐ABL, CSF3R, JAK2 (‐) (PCR, Sanger sequencing) |
AML 4 |
| 6 | 58/M | IgA‐κ type MM |
CSF3R P733T (+) JAK2 V617F, BCR‐ABL, CSF3R T618I, SETBP1 (‐) (PCR, Sanger sequencing) |
Relapse after 6 years of standardized chemotherapy for multiple myeloma 5 ; |
| 7 | 53/M | MGUS |
CSF3R, SETBP1 (+) BCR‐ABL (‐) (NGS) |
After 1 month of ruxolitinib treatment, a repeat NGS suggested clonal evolution by new mutations for SRSF2 and RUNX1 detected, along with the loss of the mutations for CSF3R and SETBP1 6 ; |
| 8 | 87/M | IgA‐λ type MM |
CSF3R, ASXL1 (+) BCR‐ABL, JAK2, MPL, CALR, SETBP1 (‐) (NSG) |
Refused treatment and died 4 months later 7 ; |
| 9 | 77/M | IgD‐λ type MM |
CSF3R T618I (+) JAK2 V617F, BCR‐ABL, PDGFRA, PDGFRB, FGFR1 (‐) (PCR, FISH, Sanger Sequencing) |
‐; 8 |
| 10 | 73/M | IgG‐κ type MGUS |
ASXL1 G976*, NRAS G12A (+) JAK2, SETBP1, BCR‐ABL, PDGFRA, PDGFRB, FGFR1, PCM1‐JAK2 (‐) (NGS) |
‐; 9 |
| 11 | 72/M | MM |
CSF3R T618I, SF3B1 (+) (No detection method was provided) |
‐; 10 |
| 12 | 73/M | IgG‐λ type MGUS |
CSF3R T618I, ASXL1, RUNX1 (+) BCR‐ABL, JAK2, SETBP1, MPL, CALR (‐) (PCR, NGS) |
After 9 months of hydroxyurea treatment, a repeat NGS suggested clonal evolution by a new mutation for NRAS detected and the loss of the mutation for RUNX1; Current report |
Abbreviations: ‐, not given; CNL, chronic neutrophilic leukemia; FISH, fluorescence in situ hybridization; FL, follicular lymphoma; HRM, high‐resolution dissolution technology; LPD, lymphocytic proliferative disease; MGUS, monoclonal gammopathy of undetermined significance; MM, multiple myeloma; NGS, next‐generation sequencing; PCD, plasma cell disorders; PCR, polymerase chain reaction; SMM, smoldering multiple myeloma.