ISM (n = 83): disease features at diagnosis according to the presence vs absence of the KIT D816V mutation in BM MSCs
| Disease features . | KIT D816V+ MSCs . | KIT D816V−MSCs . | |||
|---|---|---|---|---|---|
| All cases . | Cases with multilineage KIT mutation . | ||||
| n = 22 . | n = 61 . | P . | n = 18 . | P . | |
| Sex, M/F | 45%/55% | 44/56% | NS | 40%/60% | NS |
| Age at onset, median (range), y | 34 (0-76) | 37 (9-63) | NS | 34 (9-63) | NS |
| Follow-up, median (range), y | 15.2 (2.4-45) | 7.4 (3.6-37) | NS | 15.5 (5.5-37) | NS |
| BM MCs, median (range) | 0.49% (0.03%-4.3%) | 0.08% (0.004%-0.4%) | .008 | 0.16% (0.01%-0.4%) | NS |
| Serum tryptase, median (range), ng/mL | 170 (12.1-404) | 31.1 (8.6-182) | .001 | 55.5 (8.6-136) | NS |
| Bone lesions* | 39% | 8% | .002 | 22% | NS |
| Cytopenias | 0% | 2% | NS | 6% | NS |
| Organomegalies† | 39% | 7% | .006 | 19% | NS |
| Multilineage KIT D816V+ mutation | 100% | 30% | .0001 | 100% | NS |
| Myeloid + lymphoid multilineage KIT D816V+ mutation | 59% | 7% | .0001 | 22% | .03 |
| MC with a clonal XCIP‡ | 36% | 100% | .0005 | 100% | .01 |
| Disease progression | 50% | 5% | .0001 | 17% | .04 |
| Disease features . | KIT D816V+ MSCs . | KIT D816V−MSCs . | |||
|---|---|---|---|---|---|
| All cases . | Cases with multilineage KIT mutation . | ||||
| n = 22 . | n = 61 . | P . | n = 18 . | P . | |
| Sex, M/F | 45%/55% | 44/56% | NS | 40%/60% | NS |
| Age at onset, median (range), y | 34 (0-76) | 37 (9-63) | NS | 34 (9-63) | NS |
| Follow-up, median (range), y | 15.2 (2.4-45) | 7.4 (3.6-37) | NS | 15.5 (5.5-37) | NS |
| BM MCs, median (range) | 0.49% (0.03%-4.3%) | 0.08% (0.004%-0.4%) | .008 | 0.16% (0.01%-0.4%) | NS |
| Serum tryptase, median (range), ng/mL | 170 (12.1-404) | 31.1 (8.6-182) | .001 | 55.5 (8.6-136) | NS |
| Bone lesions* | 39% | 8% | .002 | 22% | NS |
| Cytopenias | 0% | 2% | NS | 6% | NS |
| Organomegalies† | 39% | 7% | .006 | 19% | NS |
| Multilineage KIT D816V+ mutation | 100% | 30% | .0001 | 100% | NS |
| Myeloid + lymphoid multilineage KIT D816V+ mutation | 59% | 7% | .0001 | 22% | .03 |
| MC with a clonal XCIP‡ | 36% | 100% | .0005 | 100% | .01 |
| Disease progression | 50% | 5% | .0001 | 17% | .04 |
Results expressed as percentage of cases unless stated otherwise.
F, female; M, male; NS, statistically not significantly different.
Bone lesions include osteoporosis and/or diffuse bone sclerosis due to SM.
Organomegaly includes palpable hepatomegaly and/or splenomegaly without organ failure.
Percentage of female cases with clonal MC as assessed by the human androgen receptor (HUMARA) X-chromosome inactivation test.