Table 2.
Patient specific clinical, laboratory, histological, and molecular profile of 13 KIT D816V positive advanced systemic mastocytosis patients
| # | Age in years | Sex | Type of SM | AHN | A/T | M/E | Karyotype | MC infiltration in BM (%) | Serum tryptase (µg/L) | KIT D816V EAB in BM (%) | SRSF2 | ASXL1 | RUNX1 | TET2 | Other mutations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 78 | M | ASM | MDS/MPN-U | −/− | +/+ | − | 20 | 128 | 45 | 1 | − | 1 | 1 | − |
| 2 | 75 | M | ASM | CMML | +/− | +/− | 46,XY[25] | 50 | 213 | 21 | 1 | − | − | 1 | − |
| 3 | 79 | M | ASM | MDS/MPN-U | +/+ | −/− | 46,XY[25] | 20 | 68 | 30 | − | − | − | 1 | − |
| 4 | 61 | M | ASM | MPNeo | −/− | −/+ | complex | 20 | 131 | 44 | 1 | 1 | − | 1 | − |
| 5 | 76 | M | MCL | MDS/MPN-U | +/+ | −/− | 46,XY[22] | 60 | 739 | 50 | 1 | − | − | − | IDH2 |
| 6 | 64 | M | ASM | MDS/MPN-U | −/+ | +/− | 46,XY[25] | 50 | 225 | 64 | 1 | 1 | − | − | − |
| 7 | 57 | M | ASM | MDS/MPN-U | +/− | −/− | 46,XY[20] | 50 | 140 | –a | 1 | − | − | − | − |
| 8 | 67 | F | MCL | CMML | −/− | +/− | 46,XX[23] | 20 | 102 | 58 | 1 | 1 | − | 1 | EZH2 |
| 9 | 76 | M | ASM | CMML | +/+ | +/− | 46,XY,9qh+[25] | 20 | 33 | 41 | 1 | 1 | − | 1 | − |
| 10 | 75 | M | ASM | MDS/MPN-U | +/− | +/+ | 46,XY[25] | 70 | 305 | –b | 1 | − | − | 1 | − |
| 11 | 56 | M | ASM | − | −/− | −/− | 45,X,-Y[24] | 35 | 194 | 45 | − | − | − | − | − |
| 12 | 67 | M | ASM | MDS/MPN-U | +/+ | +/− | 46,XY[20] | 20 | 214 | 42 | 1 | 1 | 1 | 1 | MPL |
| 13 | 48 | F | ASM | − | −/− | −/− | 46,XX[25] | 20 | 40 | 22 | − | − | − | − | − |
A/T anemia < 10.0 g/dL (+), > 10.0g/dL (−), platelets < 100 × 109/L (+), > 100 × 109/L (−), AHN associated hematologic neoplasm, ASM aggressive systemic mastocytosis, BM bone marrow, CMML chronic myelomonocytic leukemia, EAB expressed allele burden, F female, M male, MC mast cell, MCL mast cell leukemia, MDS myelodysplastic syndrome, M/E monocytosis > 1 × 109/L (+), < 1 × 109/L or unknown (−), eosinophilia > 1 × 109/L (+), < 1 × 109/L or unknown (−), MDS/MPN-U myelodysplastic/myeloproliferative neoplasm, unclassified, MPNeo myeloproliferative neoplasm with eosinophilia
#Patient number
aData not available, KIT D816V EAB in peripheral blood (PB) was 43%
bData not available, KIT D816V EAB in PB was 33%