ISM gene mutational profiles and pattern of BM involvement by the KIT mutation in the discovery patient cohort (N = 200)
| Gene mutational profile . | BM KIT mutational profile . | Total (N = 200) . | ||||
|---|---|---|---|---|---|---|
| ISMMC (n = 106) . | MAF (%) . | ISMMML (n = 94) . | MAF (%) . | P . | ||
| Gene variants | ||||||
| KIT D816V | 98/106 (92.5) | 93/94 (99) | .03 | 191/200 (95.5) | ||
| KIT D816H/Y* | 8/106 (7.5) | 1/94 (1) | 9/200 (4.5) | |||
| ASXL1 | 54/106 (5) | 36 | 3/94 (3) | 36 | NS | 7/200 (4) |
| CBL | 0/30 (0) | — | 1/77 (1) | 12 | NS | 1/107 (1) |
| CDH11 | 0/106 (1) | 16 | 1/94 (1) | 50 | NS | 1/200 (1) |
| DNMT3A | 3/106 (3) | 23 | 7/94 (7) | 39 | NS | 10/200 (5) |
| EZH2 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| EPHA7 | 0/106 (0) | — | 1/94 (1) | 42 | NS | 1/200 (1) |
| ICK | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| IKZF1 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| ITGA10 | 1/106 (1) | 38 | 1/94 (1) | 53 | NS | 2/200 (1) |
| JAK2 | 0/30 (0) | — | 2/77 (3) | 29 | NS | 2/107 (2) |
| KAT6B | 1/106 (1) | 54 | 0/94 (0) | — | NS | 1/200 (0.5) |
| KRAS | 0/30 (0) | — | 2/77 (3) | 22 | NS | 2/107 (2) |
| PIK3CD | 2/106 (2) | 27 | 1/94 (1) | 49 | NS | 3/200 (2) |
| ROS1 | 1/106 (1) | 51 | 1/94 (2) | 49 | NS | 2/200 (1.5) |
| RUNX1 | 0/106 (0) | — | 2/94 (2) | 49 | NS | 2/200 (1) |
| SF3B1 | 2/106 (2) | 49 | 0/94 (0) | — | NS | 2/200 (1) |
| SRSF2 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| TET2 | 2/106 (2) | 33 | 2/94 (2) | 35 | NS | 4/200 (2) |
| ≥1 gene variant other than KIT | 16/106 (15) | 34 | 19/94 (20) | 42 | NS | 35/200 (18) |
| ≥1 pathogenic variant other than KIT | 3/106 (3) | 18 | 11/94 (12) | 40 | .01 | 14/200 (7) |
| Pattern of involvement by the KIT mutation: | ||||||
| KIT D816V allele frequency ≥ 1% in BM | 5/98 (5) | 73/93 (78) | <.001 | 78/191 (40) | ||
| KIT D816V allele frequency ≥ 6% in PB | 1/58 (2) | 12/38 (32) | <.001 | 13/96 (14) | ||
| Gene mutational profile . | BM KIT mutational profile . | Total (N = 200) . | ||||
|---|---|---|---|---|---|---|
| ISMMC (n = 106) . | MAF (%) . | ISMMML (n = 94) . | MAF (%) . | P . | ||
| Gene variants | ||||||
| KIT D816V | 98/106 (92.5) | 93/94 (99) | .03 | 191/200 (95.5) | ||
| KIT D816H/Y* | 8/106 (7.5) | 1/94 (1) | 9/200 (4.5) | |||
| ASXL1 | 54/106 (5) | 36 | 3/94 (3) | 36 | NS | 7/200 (4) |
| CBL | 0/30 (0) | — | 1/77 (1) | 12 | NS | 1/107 (1) |
| CDH11 | 0/106 (1) | 16 | 1/94 (1) | 50 | NS | 1/200 (1) |
| DNMT3A | 3/106 (3) | 23 | 7/94 (7) | 39 | NS | 10/200 (5) |
| EZH2 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| EPHA7 | 0/106 (0) | — | 1/94 (1) | 42 | NS | 1/200 (1) |
| ICK | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| IKZF1 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| ITGA10 | 1/106 (1) | 38 | 1/94 (1) | 53 | NS | 2/200 (1) |
| JAK2 | 0/30 (0) | — | 2/77 (3) | 29 | NS | 2/107 (2) |
| KAT6B | 1/106 (1) | 54 | 0/94 (0) | — | NS | 1/200 (0.5) |
| KRAS | 0/30 (0) | — | 2/77 (3) | 22 | NS | 2/107 (2) |
| PIK3CD | 2/106 (2) | 27 | 1/94 (1) | 49 | NS | 3/200 (2) |
| ROS1 | 1/106 (1) | 51 | 1/94 (2) | 49 | NS | 2/200 (1.5) |
| RUNX1 | 0/106 (0) | — | 2/94 (2) | 49 | NS | 2/200 (1) |
| SF3B1 | 2/106 (2) | 49 | 0/94 (0) | — | NS | 2/200 (1) |
| SRSF2 | 0/106 (0) | — | 0/94 (0) | — | NS | 0/200 (0) |
| TET2 | 2/106 (2) | 33 | 2/94 (2) | 35 | NS | 4/200 (2) |
| ≥1 gene variant other than KIT | 16/106 (15) | 34 | 19/94 (20) | 42 | NS | 35/200 (18) |
| ≥1 pathogenic variant other than KIT | 3/106 (3) | 18 | 11/94 (12) | 40 | .01 | 14/200 (7) |
| Pattern of involvement by the KIT mutation: | ||||||
| KIT D816V allele frequency ≥ 1% in BM | 5/98 (5) | 73/93 (78) | <.001 | 78/191 (40) | ||
| KIT D816V allele frequency ≥ 6% in PB | 1/58 (2) | 12/38 (32) | <.001 | 13/96 (14) | ||
Unless otherwise noted, results are expressed as no. of cases (%).
MAF, mean allele frequency; NS, not statistically significant; —, no mutations found.
Six ISMMC cases showed the D816Y KIT mutation and 3 patients had the D816H KIT mutation (2 ISMMC cases and 1 ISMMML patient).