Table 1.
Patient characteristics
| UPN | Sex | Age, y | Type of vacuoles | Timing | Diagnosis | WHO classification* | Cytogenetics | Genetic alterations (VAF %)† | Associated conditions |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 65 | MYE/E | Onset | MDS | MDS-MLD | NK | DNMT3A (26), UBA1‡ | Sweet syndrome, VT, VEXAS |
| 2 | M | 62 | MYE/E | Onset | MDS | MDS-MLD | NK | DNMT3A (4) | RA |
| 3 | F | 76 | MYE | Onset | MDS | MDS-EB-2 | CK | NA | Ulcerative colitis |
| 4 | F | 67 | B | Follow-up | tr-MN | tr-MN | CK | TP53 (34) | Graves’ disease |
| 5 | M | 76 | B | Follow-up | sAML | AML-MRC | CK | ASXL1 (52), U2AF1 (9) | |
| 6 | M | 66 | MYE/E | Onset | MDS | MDS-SLD | NK | UBA1‡ | Sweet syndrome, RA, VT, VEXAS |
| 7 | M | 86 | B | Follow-up | tr-MN | tr-MN | CK | ASXL1 (36), IDH2 (19), SF3B1 (21), TET2 (4), TP53 (23) | Previous diagnosis of CLL |
| 8 | M | 64 | E | Follow-up | sAML | AML-MRC | CK | WT | Previous diagnosis of MDS |
| 9 | M | 64 | B | Follow-up | sAML | AML-MRC | CK | JAK2 (36) | Previous diagnosis of ET |
| 10 | M | 87 | B | Follow-up | MDS | MDS-EB-2 | NK§ | 21q21.1-q22.3 LOH§ | |
| 11 | F | 73 | MYE/E | Onset | CD | NA | NK | NA | Alcohol abuse, hepatopathy |
| 12 | M | 65 | E | Follow-up | MDS | MDS-EB-2 | CK | WT | |
| 13 | M | 9 | E | Onset | CS | NA | NK | NA | Complex congenital syndrome |
| 14 | F | 58 | B | Follow-up | sAML | AML-MRC | CK | CUX1 (73) | Previous diagnosis of MDS |
| 15 | M | 42 | MYE | Onset | CD | NA | NK | NA | HIV, celiac disease |
| 16 | M | 92 | E | Onset | sAML | AML-MRC | CK | NA | Previous diagnosis of MDS, HT |
| 17 | F | 76 | B | Onset | MDS | MDS-EB-2 | CK | NA | Vasculitis |
| 18 | F | 49 | E | Follow-up | MDS | MDS-RS-MLD | NK | BCOR (46) | |
| 19 | M | 65 | B | Follow-up | sAML | AML-MRC | +8 | IDH1 (43), RUNX1 (39) | Previous diagnosis of MDS |
| 20 | M | 63 | B | Follow-up | tr-MN | tr-MN | CK | NA | Previous diagnosis of FL |
| 21 | F | 75 | E | Follow-up | tr-MN | tr-MN | CK | DNMT3A (34) | Previous diagnosis of FL |
| 22 | M | 65 | MYE/E | Follow-up | MDS | MDS-SLD | NK | DDX41 (45), DNMT3A (14), PHF6 (15) | |
| 23 | M | 65 | B | Follow-up | sAML | AML-MRC | CK | DNMT3A (44), JAK2 (8), TET2 (46), TET2 (43) | Previous diagnosis of MDS |
| 24 | M | 85 | E | Follow-up | MDS | MDS-MLD | +11 | NA |
AML, acute myeloid leukemia; B, blasts; CD, copper deficiency; CK, complex karyotype; CLL, chronic lymphocytic leukemia; CS, congenital syndrome; E, erythroid; EB, excess blasts; ET, essential thrombocythemia; F, female; FL, follicular lymphoma; HT, Hashimoto’s thyroiditis; LOH, loss of heterozygosity; M, male; MDS, myelodysplastic syndrome; MLD, multilineage dysplasia; MRC, myelodysplasia-related changes; MYE, myeloid; NA, not applicable/available; NK, normal karyotype; RA, rheumatoid arthritis; RS, ringed sideroblasts; s, secondary; SLD, single-lineage dysplasia; tr, therapy related; VAF, variant allele frequency; UPN, unique patient number; VT, venous thromboembolism; WHO, World Health Organization; WT, wild type.
WHO classification follows the 2016 revision of the WHO classification of MNs and acute leukemia.12
Somatic variants reported are those detected at the time of collection of BM specimens.
UBA1 mutations were detected by Sanger sequencing.
This patient had a copy-neutral LOH involving most of the long arm of chromosome 21 (21q21.1-q22.3) in a small but significant percentage of the cell population. This region would encompass the RUNX1 gene, and the lesion was classified as likely pathogenic.