Table 1 Demographical and disease characteristics of 12 patients with smoldering or advanced systemic mastocytosis.
# | Sex | Age in years at Dx | WHO Dx | Type of AHN | Time from Dx to DECT (years) | VNCa values (HU) | A/T | Serum tryptase (µg/L) | MCI in BM (%) | KIT D816V EAB in BM (%) | KIT D816V EAB in PB (%) | Other mutations | Karyotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | m | 50 | SSM | – | 7, 24 | − 1 | −/− | 545 | 20 | 14 | 14 | – | 46, XY |
2 | m | 56 | ASM | – | 0, 76 | 6 | −/− | 194 | 35 | 45 | 18 | – | 46, XY |
3 | m | 66 | SM-AHN | MDS/MPN-U | 0, 66 | − 6 | −/+ | 206 | 20 | 42 | 46 | ASXL1, SRSF2, TET2 | 46, XY |
4 | f | 42 | SSM | – | 3, 42 | 7 | −/− | 302 | 70 | 42 | 0 | – | 46, XX |
5 | f | 81 | SM-AHN | MDS/MPN-U | 1, 34 | 24 | +/+ | 554 | 60 | 16 | 54 | TET2 | 46, XX |
6 | m | 72 | SM-AHN | MDS/MPN-U | 1, 19 | 5 | −/− | 377 | 35 | 8, 4 | 18 | JAK2, SRSF2 | 46, XY |
7 | m | 65 | SM-AHN | MDS/MPN-U | 0, 86 | 2 | −/− | 430 | 50 | 29 | 22 | ASXL1, TET2 | 46, XY |
8 | m | 54 | MCL | – | 0, 33 | 7 | −/− | 885 | 70 | KIT neg | KIT neg | – | 46, XY |
9 | f | 63 | SM-AHN | MDS | 0, 73 | − 64 | +/− | 87 | 25 | 23 | 0 | – | 46, XX |
10 | f | 55 | SSM | – | 5, 75 | − 40 | −/− | 184 | 30 | KIT neg | KIT neg | – | 46, XX |
11 | m | 66 | SM-AHN | MPNeo | 0, 50 | − 20 | −/− | 146 | 5 | 14 | 8, 1 | JAK2 | 47, XY, + 19 |
12 | m | 55 | SM-AHN | CMML | 1, 42 | − 22 | +/− | 155 | 40 | 37 | 41 | SRSF2 | 46, XY |
