Table 1.
Details of patient and disease characteristics in VEXAS syndrome
| UPN | Age at disease onset (y) | UBA1 variant p.Met41 | UBA1 mutation VAF (%) | Hematologic diagnosis* | Thrombosis | Macrocytic anemia | RBC transfusion dependence | Hemoglobin (g/dL) | Platelets × 103/µL | ANC × 103 /µL | ALC × 103/ µL | Dysplasia on BM aspirate (%) | Marrow cellularity (%) | Precursors with cytoplasmic vacuoles† | M:E ratio | Outcome | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Malignant | Premalignant | VTE | >1 VTE | Arterial | Megakaryocyte | Myeloid | Erythroid | ||||||||||||||
| 3 | 71 | c.122 T<C; p.Met41Thr | 62.5 | MDS-MLD | — | Y | Y | Y | 7.9 | 36 | 1.08 | 0.44 | >10 | <10 | >10 | 60 | Y | 10:1 | DOD | ||
| 6 | 56 | c.122 T<C; p.Met41Val | 77.6 | MDS-MLD | — | Y | Y | Y | Y | 10.2 | 43 | 1.37 | 0.33 | >10 | >10 | <10 | 60 | Y | 5:1 | DOD | |
| 10 | 64 | c.121 T<C; p.Met41Thr | 73.1 | MDS-MLD | MGUS (IgG kappa) | Y | N | 9.9 | 46 | 1.24 | 0.85 | >10 | >10 | >10 | 95 | Y | 7:1 | Alive | |||
| 11 | 70 | c.121 A<C; p.Met41Leu | 32.5 | MDS-SLD | — | Y | Y | Y | Y | 9.9 | 42 | 1.65 | 2.84 | 10 | <10 | <10 | 90 | Y | 7:1 | Alive | |
| 14 | 56 | c.122 T<C; p.Met41Thr | 89.3 | MDS-SLD | — | Y | Y | 8.1 | 36 | 3.84 | 0.57 | 10 | <10 | <10 | 90 | Y | 8:1 | Alive | |||
| 15 | 77 | c.121 A<C; pMet41Val | 82.6 | MDS-MLD | — | Y | Y | Y | Y | 7.9 | 112 | 8.72 | 1.13 | >10 | >10 | <10 | 60 | Y | 7:1 | DOD | |
| 12 | 64 | c.121 A<C; p.Met41Leu | 76.2 | MM (IgG kappa) | MBL | Y | Y | 11.9 | 148 | 3.8 | 0.36 | <10 | <10 | <10 | 50 | Y | 4:1 | Alive | |||
| 16 | 69 | c.121 A<C; p.Met41Leu | 86.2‡ | MM (biclonal)§ | — | Y | N | 9.8 | 72 | 1.93 | 0.32 | <10 | <10 | <10 | 100 | Y | 5:1 | Alive | |||
| 1 | 45 | c.122 T<C; p.Met41Thr | 54.9 | — | — | Y | Y | Y | N | 11.1 | 79 | 2.64 | 0.21 | <10 | <10 | <10 | 60 | Y | 3:1 | DOD | |
| 2 | 56 | c.121 A<G; p.Met41Val | 52.8 | — | MGUS (IgG kappa) | Y | Y | Y | N | 13.9 | 428 | 12.1 | 0.14 | <10 | <10 | <10 | 75 | Y | 4:1 | DOD | |
| 4 | 55 | c.121 A<G; p.Met41Val | 80.5 | — | — | Y | Y | Y | Y | 10.2 | 200 | 6.2 | 0.22 | <10 | <10 | <10 | 100 | Y | 10:1 | DOD | |
| 5 | 56 | c.122 T<C; p.Met41Thr | 97.2 | — | — | Y | Y | 8.4 | 60 | 9.08 | 0.61 | <10 | <10 | <10 | 80 | Y | 7:1 | DOD | |||
| 7 | 64 | c.122 T<C; p.Met41Thr | 85.9 | — | — | Y | Y | N | 11.4 | 159 | 3.77 | 0.24 | <10 | <10 | <10 | 70 | Y | 4:1 | Alive | ||
| 8 | 53 | c.122 T<C; p.Met41Thr | 69.9 | — | — | Y | Y | Y | Y | 8.5 | 115 | 4.08 | 0.29 | <10 | <10 | <10 | 65 | Y | 4:1 | Alive | |
| 9 | 58 | c.121 A<G; p.Met41Val | 16.2 | — | — | Y | N | 12.4 | 224 | 2.45 | 0.10 | <10 | <10 | <10 | 25 | Y | 2:1 | DOD | |||
| 13 | 56 | c.122 T<C; p.Met41Thr | 68.1 | — | MBL | Y | Y | N | 8.9 | 96 | 6.22 | 0.58 | <10 | <10 | <10 | 75 | Y | 4:1 | Alive | ||
ALC, absolute lymphocyte count; DOD, died of disease; MBL, monoclonal B-cell lymphocytosis; N, no; UPN, unique patient number; VTE, venous thromboembolism (confirmed by imaging); Y, yes.
*
Diagnosis based on 2016 WHO classification for myeloid neoplasms and International Working Group classification for plasma cell dyscrasia.
†
Cytoplasmic vacuoles were observed in erythroid and myeloid precursor cells.
‡
VAF pretransplant, post-autologous transplant, 12.2%.
§
IgA lambda and IgG kappa.