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 | ||
| 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.