Table 3.

Number of genes carrying nonsynonymous coding genetic variants (somatic vs germline mutations) per SM patient grouped according to the distinct diagnostic subtypes of the disease

Patient IDWHO diagnostic subtypeHematopoietic acquired somatic mutationsGermline genetic variants or early acquired mutationsMutations, median (range), nPatients with ≥2 mutations (%)Total genetic variantsMutations, median (range), nPatients with ≥3 mutations (%)
MC restricted mutationsMutations, median (range), nMutated patients (%)Multilineal mutationsMutations, median (range), nMutated patients (%)Total somatic mutationsMutations, median (range), nMutated patients (%)
1ISM0 (0-2)3/12 (25)0 (0-2)3/12 (25)0 (0-3)4/12 (33)1 (0-2)3/12 (25)1 (0-4)3/12 (25)
2ISM1 (EP400)1
3ISM2 (RECQL4, NSD2)2
4ISM1 (DCC)1
5ISM1 (ITGA10)11
6ISM
7ISM1 (RUNX1)12 (CSF1R, MARK4)3
8ISM1 (SYNE1)1
9ISM2 (IGF2R, ITPKA)2
10ISM1 (HSP90AA1)1
11ISM2 (EZH2, SF3B1)1 (DNMT3A)33
12ISM1 (IKZF1)2 (ASXL1, DNMT3A)31 (DCC)4
13ASM0 (0-1) NS2/8 (25) NS2 (0-5) P = .0047/8 (88) P = .0082 (0-5) P = .027/8 (88) P = .021 (SDHC)1 (0-6) NS3/8 (38) NS13 (1-11) P = .026/8 (75) P = .03
14ASM1 (PIK3CD)1 (EPHA7)22
15ASM2 (EZH2, IKZF1)21 (DST)3
16ASM2 (SRSF2, TET2)21 (CREBBP)3
17ASM1 (KAT6B)2 (ASXL1, RUNX1)33
18ASM3 (EZH2, ROS1, SF3B1)33 (EPHB6, LRP1B, RPS6KA2)6
19ASM1 (EZH2)13 (CYP2C19, LRP1B, TCF3)4
20ASM5 (CDH11, ICK, SRSF2, RUNX1, TET2)56 (ADGRB3, MBD1, MUC1, NFKB2, NOTCH4, SOCS1)11
  • Results are expressed as number of genetic variants per case after classifying the genetic variants into hematopoietic restricted mutations and germline genetic variants or early acquired mutations (ie, during embryonic development).

  • NS, not statistically significantly different.