Table 1.

Clinical and biological features of the 34 SM patients carrying the multilineal KIT mutation analyzed in this study

Patient IDSexAge, yDiagnosisProgressionPFS, yFollow-up (at disease progression or last visit)AliveOS, yCause of progression
WHO subtypeBM MC aggregates in histologysBT, ng/mLAge, yWHO subtypesBT, ng/mL
1M46ISM+115No1763ISM105Yes17
2M48ISM+210No1967ISM258Yes19
3M67ISM+167No370ISM143Yes3
4F71ISM+208Yes576SSM289Yes10sBT > 200; SPLEN
5F39ISM+175Yes1554SSM240Yes17sBT > 200; SPLEN
6M45ISM+267Yes246SSM310Yes9HEP-SPLEN; DBS
7M66ISM+270Yes268ASM305No6HEP-SPLEN; NEUP
8F11ISM+1077Yes1425ASM1970Yes30HEP-SPLEN*; DBS
9M0ISM+332Yes3231ASM430Yes48HEP-SPLEN*; DBS
10M32ISM+1298Yes3062ASM2036Yes39HEP*; DBS
11M57ISM+362Yes663ASM1507No7HEP*; IDA
12F47ISM+290Yes249ASM312No6SPLEN*; DBS; TRP
Subtotal66% M, 34% F46.5 (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)
13M51ASM+238No657ASM174Yes6
14F60ASM+260No1070ASM288Yes10
15M72ASM+1469No476ASM1469Yes4
16M66ASM+123Yes470SM-AHN53No4MPN
17F37ASM+201Yes138SM-AHNNAYes3AML
18M65ASM+150Yes368SM-AHN516No4MDS
19M45ASM+548Yes449SM-AHN477No10AML
20M58ASM+178Yes159SM-AHN235No2MDS
21F76ASM+279Yes581ASM400No5SM-related death
22F49SM-AHN+180No1050SM-AHN173Yes10
23F41SM-AHN+184No344SM-AHN123Yes3
24F53SM-AHN+159No356SM-AHN85Yes3
25F51SM-AHN+112Yes1162SM-AHN147No11SM-related death
26F56SM-AHN+1376Yes157SM-AHN1354No1SM-related death
27M64ASM+180Yes1276SM-AHN107Yes12AML
28M70ASM+308Yes171ASM308No1SM-related death
29M59SM-AHN+160Yes160SM-AHN257No1SM-related death
30M15SM-AHN+210No1328SM-AHN107Yes13
31F66SSM+892No470SSM386Yes4
32M41SSM+304No1859SSM226Yes18
33F52SSM+316No557SSM282Yes5
34F33SSM+187No1043SSM166Yes10
Subtotal50% M 50% F54.5 (15-76)224 (112-1469)11/22 (50%)4 (1-18)59 (28-81)235 (53-1469)13/22 (59%)4.5 (1-18)
Total56% M 44% F51.5 (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.