Clinical and biological features of the 34 SM patients carrying the multilineal KIT mutation analyzed in this study
| Patient ID . | Sex . | Age, y . | Diagnosis . | Progression . | PFS, y . | Follow-up (at disease progression or last visit) . | Alive . | OS, y . | Cause of progression . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WHO subtype . | BM MC aggregates in histology . | sBT, ng/mL . | Age, y . | WHO subtype . | sBT, ng/mL . | ||||||||
| 1 | M | 46 | ISM | + | 115 | No | 17 | 63 | ISM | 105 | Yes | 17 | – |
| 2 | M | 48 | ISM | + | 210 | No | 19 | 67 | ISM | 258 | Yes | 19 | – |
| 3 | M | 67 | ISM | + | 167 | No | 3 | 70 | ISM | 143 | Yes | 3 | – |
| 4 | F | 71 | ISM | + | 208 | Yes | 5 | 76 | SSM | 289 | Yes | 10 | sBT > 200; SPLEN |
| 5 | F | 39 | ISM | + | 175 | Yes | 15 | 54 | SSM | 240 | Yes | 17 | sBT > 200; SPLEN |
| 6 | M | 45 | ISM | + | 267 | Yes | 2 | 46 | SSM | 310 | Yes | 9 | HEP-SPLEN; DBS |
| 7 | M | 66 | ISM | + | 270 | Yes | 2 | 68 | ASM | 305 | No | 6 | HEP-SPLEN; NEUP |
| 8 | F | 11 | ISM | + | 1077 | Yes | 14 | 25 | ASM | 1970 | Yes | 30 | HEP-SPLEN*; DBS |
| 9 | M | 0 | ISM | + | 332 | Yes | 32 | 31 | ASM | 430 | Yes | 48 | HEP-SPLEN*; DBS |
| 10 | M | 32 | ISM | + | 1298 | Yes | 30 | 62 | ASM | 2036 | Yes | 39 | HEP*; DBS |
| 11 | M | 57 | ISM | + | 362 | Yes | 6 | 63 | ASM | 1507 | No | 7 | HEP*; IDA |
| 12 | F | 47 | ISM | + | 290 | Yes | 2 | 49 | ASM | 312 | No | 6 | SPLEN*; DBS; TRP |
| Subtotal | 66% M, 34% F | 46.5 (0-71) | 270 (167-1298) | 9/12 (75%) | 10 (2-32) | 62.5 (25-76) | 307.5 (105-2036) | 9/12 (75%) | 13.5 (3-48) | ||||
| 13 | M | 51 | ASM | + | 238 | No | 6 | 57 | ASM | 174 | Yes | 6 | – |
| 14 | F | 60 | ASM | + | 260 | No | 10 | 70 | ASM | 288 | Yes | 10 | – |
| 15 | M | 72 | ASM | + | 1469 | No | 4 | 76 | ASM | 1469 | Yes | 4 | – |
| 16 | M | 66 | ASM | + | 123 | Yes | 4 | 70 | SM-AHN | 53 | No | 4 | MPN |
| 17 | F | 37 | ASM | + | 201 | Yes | 1 | 38 | SM-AHN | NA | Yes | 3 | AML |
| 18 | M | 65 | ASM | + | 150 | Yes | 3 | 68 | SM-AHN | 516 | No | 4 | MDS |
| 19 | M | 45 | ASM | + | 548 | Yes | 4 | 49 | SM-AHN | 477 | No | 10 | AML |
| 20 | M | 58 | ASM | + | 178 | Yes | 1 | 59 | SM-AHN | 235 | No | 2 | MDS |
| 21 | F | 76 | ASM | + | 279 | Yes | 5 | 81 | ASM | 400 | No | 5 | SM-related death |
| 22 | F | 49 | SM-AHN | + | 180 | No | 10 | 50 | SM-AHN | 173 | Yes | 10 | – |
| 23 | F | 41 | SM-AHN | + | 184 | No | 3 | 44 | SM-AHN | 123 | Yes | 3 | – |
| 24 | F | 53 | SM-AHN | + | 159 | No | 3 | 56 | SM-AHN | 85 | Yes | 3 | – |
| 25 | F | 51 | SM-AHN | + | 112 | Yes | 11 | 62 | SM-AHN | 147 | No | 11 | SM-related death |
| 26 | F | 56 | SM-AHN | + | 1376 | Yes | 1 | 57 | SM-AHN | 1354 | No | 1 | SM-related death |
| 27 | M | 64 | ASM | + | 180 | Yes | 12 | 76 | SM-AHN | 107 | Yes | 12 | AML |
| 28 | M | 70 | ASM | + | 308 | Yes | 1 | 71 | ASM | 308 | No | 1 | SM-related death |
| 29 | M | 59 | SM-AHN | + | 160 | Yes | 1 | 60 | SM-AHN | 257 | No | 1 | SM-related death |
| 30 | M | 15 | SM-AHN | + | 210 | No | 13 | 28 | SM-AHN | 107 | Yes | 13 | – |
| 31 | F | 66 | SSM | + | 892 | No | 4 | 70 | SSM | 386 | Yes | 4 | – |
| 32 | M | 41 | SSM | + | 304 | No | 18 | 59 | SSM | 226 | Yes | 18 | – |
| 33 | F | 52 | SSM | + | 316 | No | 5 | 57 | SSM | 282 | Yes | 5 | – |
| 34 | F | 33 | SSM | + | 187 | No | 10 | 43 | SSM | 166 | Yes | 10 | – |
| Subtotal | 50% M 50% F | 54.5 (15-76) | 224 (112-1469) | 11/22 (50%) | 4 (1-18) | 59 (28-81) | 235 (53-1469) | 13/22 (59%) | 4.5 (1-18) | ||||
| Total | 56% M 44% F | 51.5 (0-76) | 249 (112-1469) | 20/34 (59%) | 4 (1-32) | 62 (25-81) | 282 (53-2036) | 22/34 (65%) | 6.5 (1-48) | ||||
| Patient ID . | Sex . | Age, y . | Diagnosis . | Progression . | PFS, y . | Follow-up (at disease progression or last visit) . | Alive . | OS, y . | Cause of progression . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WHO subtype . | BM MC aggregates in histology . | sBT, ng/mL . | Age, y . | WHO subtype . | sBT, ng/mL . | ||||||||
| 1 | M | 46 | ISM | + | 115 | No | 17 | 63 | ISM | 105 | Yes | 17 | – |
| 2 | M | 48 | ISM | + | 210 | No | 19 | 67 | ISM | 258 | Yes | 19 | – |
| 3 | M | 67 | ISM | + | 167 | No | 3 | 70 | ISM | 143 | Yes | 3 | – |
| 4 | F | 71 | ISM | + | 208 | Yes | 5 | 76 | SSM | 289 | Yes | 10 | sBT > 200; SPLEN |
| 5 | F | 39 | ISM | + | 175 | Yes | 15 | 54 | SSM | 240 | Yes | 17 | sBT > 200; SPLEN |
| 6 | M | 45 | ISM | + | 267 | Yes | 2 | 46 | SSM | 310 | Yes | 9 | HEP-SPLEN; DBS |
| 7 | M | 66 | ISM | + | 270 | Yes | 2 | 68 | ASM | 305 | No | 6 | HEP-SPLEN; NEUP |
| 8 | F | 11 | ISM | + | 1077 | Yes | 14 | 25 | ASM | 1970 | Yes | 30 | HEP-SPLEN*; DBS |
| 9 | M | 0 | ISM | + | 332 | Yes | 32 | 31 | ASM | 430 | Yes | 48 | HEP-SPLEN*; DBS |
| 10 | M | 32 | ISM | + | 1298 | Yes | 30 | 62 | ASM | 2036 | Yes | 39 | HEP*; DBS |
| 11 | M | 57 | ISM | + | 362 | Yes | 6 | 63 | ASM | 1507 | No | 7 | HEP*; IDA |
| 12 | F | 47 | ISM | + | 290 | Yes | 2 | 49 | ASM | 312 | No | 6 | SPLEN*; DBS; TRP |
| Subtotal | 66% M, 34% F | 46.5 (0-71) | 270 (167-1298) | 9/12 (75%) | 10 (2-32) | 62.5 (25-76) | 307.5 (105-2036) | 9/12 (75%) | 13.5 (3-48) | ||||
| 13 | M | 51 | ASM | + | 238 | No | 6 | 57 | ASM | 174 | Yes | 6 | – |
| 14 | F | 60 | ASM | + | 260 | No | 10 | 70 | ASM | 288 | Yes | 10 | – |
| 15 | M | 72 | ASM | + | 1469 | No | 4 | 76 | ASM | 1469 | Yes | 4 | – |
| 16 | M | 66 | ASM | + | 123 | Yes | 4 | 70 | SM-AHN | 53 | No | 4 | MPN |
| 17 | F | 37 | ASM | + | 201 | Yes | 1 | 38 | SM-AHN | NA | Yes | 3 | AML |
| 18 | M | 65 | ASM | + | 150 | Yes | 3 | 68 | SM-AHN | 516 | No | 4 | MDS |
| 19 | M | 45 | ASM | + | 548 | Yes | 4 | 49 | SM-AHN | 477 | No | 10 | AML |
| 20 | M | 58 | ASM | + | 178 | Yes | 1 | 59 | SM-AHN | 235 | No | 2 | MDS |
| 21 | F | 76 | ASM | + | 279 | Yes | 5 | 81 | ASM | 400 | No | 5 | SM-related death |
| 22 | F | 49 | SM-AHN | + | 180 | No | 10 | 50 | SM-AHN | 173 | Yes | 10 | – |
| 23 | F | 41 | SM-AHN | + | 184 | No | 3 | 44 | SM-AHN | 123 | Yes | 3 | – |
| 24 | F | 53 | SM-AHN | + | 159 | No | 3 | 56 | SM-AHN | 85 | Yes | 3 | – |
| 25 | F | 51 | SM-AHN | + | 112 | Yes | 11 | 62 | SM-AHN | 147 | No | 11 | SM-related death |
| 26 | F | 56 | SM-AHN | + | 1376 | Yes | 1 | 57 | SM-AHN | 1354 | No | 1 | SM-related death |
| 27 | M | 64 | ASM | + | 180 | Yes | 12 | 76 | SM-AHN | 107 | Yes | 12 | AML |
| 28 | M | 70 | ASM | + | 308 | Yes | 1 | 71 | ASM | 308 | No | 1 | SM-related death |
| 29 | M | 59 | SM-AHN | + | 160 | Yes | 1 | 60 | SM-AHN | 257 | No | 1 | SM-related death |
| 30 | M | 15 | SM-AHN | + | 210 | No | 13 | 28 | SM-AHN | 107 | Yes | 13 | – |
| 31 | F | 66 | SSM | + | 892 | No | 4 | 70 | SSM | 386 | Yes | 4 | – |
| 32 | M | 41 | SSM | + | 304 | No | 18 | 59 | SSM | 226 | Yes | 18 | – |
| 33 | F | 52 | SSM | + | 316 | No | 5 | 57 | SSM | 282 | Yes | 5 | – |
| 34 | F | 33 | SSM | + | 187 | No | 10 | 43 | SSM | 166 | Yes | 10 | – |
| Subtotal | 50% M 50% F | 54.5 (15-76) | 224 (112-1469) | 11/22 (50%) | 4 (1-18) | 59 (28-81) | 235 (53-1469) | 13/22 (59%) | 4.5 (1-18) | ||||
| Total | 56% M 44% F | 51.5 (0-76) | 249 (112-1469) | 20/34 (59%) | 4 (1-32) | 62 (25-81) | 282 (53-2036) | 22/34 (65%) | 6.5 (1-48) | ||||
Subtotal and total results are expressed as percentage of cases (and range) for sex (male [M]/female [F]); as median (and range) for age, serum baseline tryptase (sBT), PFS, and OS; and as number of cases (and percentage) for progression and survival.
DBS, diffuse bone sclerosis; HEP, hepatomegaly; IDA, iron-deficiency anemia; MPN, myeloproliferative neoplasm; NEUP, neutropenia; SPLEN, splenomegaly; TRP, thrombocytopenia; +, positive; –, no progression.
With organ failure.