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 ID . | WHO diagnostic subtype . | Hematopoietic acquired somatic mutations . | Germline genetic variants or early acquired mutations . | Mutations, median (range), n . | Patients with ≥2 mutations (%) . | Total genetic variants . | Mutations, median (range), n . | Patients with ≥3 mutations (%) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MC restricted mutations . | Mutations, median (range), n . | Mutated patients (%) . | Multilineal mutations . | Mutations, median (range), n . | Mutated patients (%) . | Total somatic mutations . | Mutations, median (range), n . | Mutated patients (%) . | ||||||||
| 1 | ISM | – | 0 (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) |
| 2 | ISM | – | – | – | 1 (EP400) | 1 | ||||||||||
| 3 | ISM | – | – | – | 2 (RECQL4, NSD2) | 2 | ||||||||||
| 4 | ISM | – | – | – | 1 (DCC) | 1 | ||||||||||
| 5 | ISM | 1 (ITGA10) | – | 1 | – | 1 | ||||||||||
| 6 | ISM | – | – | – | – | – | ||||||||||
| 7 | ISM | – | 1 (RUNX1) | 1 | 2 (CSF1R, MARK4) | 3 | ||||||||||
| 8 | ISM | – | – | – | 1 (SYNE1) | 1 | ||||||||||
| 9 | ISM | – | – | – | 2 (IGF2R, ITPKA) | 2 | ||||||||||
| 10 | ISM | – | – | – | 1 (HSP90AA1) | 1 | ||||||||||
| 11 | ISM | 2 (EZH2, SF3B1) | 1 (DNMT3A) | 3 | – | 3 | ||||||||||
| 12 | ISM | 1 (IKZF1) | 2 (ASXL1, DNMT3A) | 3 | 1 (DCC) | 4 | ||||||||||
| 13 | ASM | – | 0 (0-1) NS | 2/8 (25) NS | – | 2 (0-5) P = .004 | 7/8 (88) P = .008 | – | 2 (0-5) P = .02 | 7/8 (88) P = .02 | 1 (SDHC) | 1 (0-6) NS | 3/8 (38) NS | 1 | 3 (1-11) P = .02 | 6/8 (75) P = .03 |
| 14 | ASM | 1 (PIK3CD) | 1 (EPHA7) | 2 | – | 2 | ||||||||||
| 15 | ASM | – | 2 (EZH2, IKZF1) | 2 | 1 (DST) | 3 | ||||||||||
| 16 | ASM | – | 2 (SRSF2, TET2) | 2 | 1 (CREBBP) | 3 | ||||||||||
| 17 | ASM | 1 (KAT6B) | 2 (ASXL1, RUNX1) | 3 | – | 3 | ||||||||||
| 18 | ASM | – | 3 (EZH2, ROS1, SF3B1) | 3 | 3 (EPHB6, LRP1B, RPS6KA2) | 6 | ||||||||||
| 19 | ASM | – | 1 (EZH2) | 1 | 3 (CYP2C19, LRP1B, TCF3) | 4 | ||||||||||
| 20 | ASM | – | 5 (CDH11, ICK, SRSF2, RUNX1, TET2) | 5 | 6 (ADGRB3, MBD1, MUC1, NFKB2, NOTCH4, SOCS1) | 11 | ||||||||||
| Patient ID . | WHO diagnostic subtype . | Hematopoietic acquired somatic mutations . | Germline genetic variants or early acquired mutations . | Mutations, median (range), n . | Patients with ≥2 mutations (%) . | Total genetic variants . | Mutations, median (range), n . | Patients with ≥3 mutations (%) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MC restricted mutations . | Mutations, median (range), n . | Mutated patients (%) . | Multilineal mutations . | Mutations, median (range), n . | Mutated patients (%) . | Total somatic mutations . | Mutations, median (range), n . | Mutated patients (%) . | ||||||||
| 1 | ISM | – | 0 (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) |
| 2 | ISM | – | – | – | 1 (EP400) | 1 | ||||||||||
| 3 | ISM | – | – | – | 2 (RECQL4, NSD2) | 2 | ||||||||||
| 4 | ISM | – | – | – | 1 (DCC) | 1 | ||||||||||
| 5 | ISM | 1 (ITGA10) | – | 1 | – | 1 | ||||||||||
| 6 | ISM | – | – | – | – | – | ||||||||||
| 7 | ISM | – | 1 (RUNX1) | 1 | 2 (CSF1R, MARK4) | 3 | ||||||||||
| 8 | ISM | – | – | – | 1 (SYNE1) | 1 | ||||||||||
| 9 | ISM | – | – | – | 2 (IGF2R, ITPKA) | 2 | ||||||||||
| 10 | ISM | – | – | – | 1 (HSP90AA1) | 1 | ||||||||||
| 11 | ISM | 2 (EZH2, SF3B1) | 1 (DNMT3A) | 3 | – | 3 | ||||||||||
| 12 | ISM | 1 (IKZF1) | 2 (ASXL1, DNMT3A) | 3 | 1 (DCC) | 4 | ||||||||||
| 13 | ASM | – | 0 (0-1) NS | 2/8 (25) NS | – | 2 (0-5) P = .004 | 7/8 (88) P = .008 | – | 2 (0-5) P = .02 | 7/8 (88) P = .02 | 1 (SDHC) | 1 (0-6) NS | 3/8 (38) NS | 1 | 3 (1-11) P = .02 | 6/8 (75) P = .03 |
| 14 | ASM | 1 (PIK3CD) | 1 (EPHA7) | 2 | – | 2 | ||||||||||
| 15 | ASM | – | 2 (EZH2, IKZF1) | 2 | 1 (DST) | 3 | ||||||||||
| 16 | ASM | – | 2 (SRSF2, TET2) | 2 | 1 (CREBBP) | 3 | ||||||||||
| 17 | ASM | 1 (KAT6B) | 2 (ASXL1, RUNX1) | 3 | – | 3 | ||||||||||
| 18 | ASM | – | 3 (EZH2, ROS1, SF3B1) | 3 | 3 (EPHB6, LRP1B, RPS6KA2) | 6 | ||||||||||
| 19 | ASM | – | 1 (EZH2) | 1 | 3 (CYP2C19, LRP1B, TCF3) | 4 | ||||||||||
| 20 | ASM | – | 5 (CDH11, ICK, SRSF2, RUNX1, TET2) | 5 | 6 (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.