Table 1 Demographic, clinical and diagnosis details of the sample cohorts
Case (#) | Gender | Age at diagnosis (years) | Location | Initial histological diagnosis | Integrated diagnosis |
|---|---|---|---|---|---|
Group 1 | |||||
1 | M | 9 | left lower limb | MPNST | HGUSCS |
2 | M | 22 | paraspinal | MTT | DICER1 syndrome-associated sarcoma |
3 | M | 12 | torax | MTT | MTT in NF1 |
4 | M | 15 | torax | MPNST | MPNST |
5 | M | 16 | head and neck | MPNST | MPNST |
6 | F | 17 | upper limb | ANF | ANF |
7 | F | 18 | left lower limb | MPNST | MPNST |
8 | M | 9 | lung metastasis | MPNST | HGUSCS |
9 | F | NA | NA | MPNST | MPNST |
10 | M | NA | NA | MPNST | MPNST |
11 | F | 0.17 | pelvis | MPNST | BCOR-altered sarcoma |
12 | F | 3 | lower limb | MTT | Spindle cell RMS, MYOD1-mut |
13 | M | 18 | torax | MPNST | MPNST |
14 | M | 12 | head and neck | MPNST | MPNST |
15 | M | NA | NA | MPNST | MPNST |
16 | F | NA | NA | MPNST | MPNST |
17 | M | NA | NA | MPNST | MPNST |
18 | F | 19 | left lower limb | MPNST | MPNST |
19 | F | 18 | left lower limb | MPNST | MPNST |
20 | F | 16 | abdomen | MPNST | MPNST |
21 | M | 24 | torax | MPNST | MPNST |
22 | F | 19 | left upper limb | MPNST | MPNST |
23 | M | 17 | right iliac fossa | MPNST | MPNST |
24 | F | 19 | left lower limb | MPNST | MPNST |
25 | M | 10 | torax | MPNST | MPNST |
26 | M | 13 | NA | MPNST | MPNST |
27 | F | 2 | pelvis | MTT/RMS | RMS in NF1 |
28 | M | 10 | right upper limb | ANF | ANF |
29 | M | 14 | head and neck | MPNST | MPNST |
30 | F | 15 | head and neck | ANF | ANF |
31 | F | 11 | left upper limb | ANF | ANF |
32 | M | 20 | left upper limb | ANF | ANF |
Group 2 | |||||
33 | M | 11 | left lower limb | HGUSCS | HGUSCS |
34 | F | 4 | retroperitoneum | HGUSCS | HGUSCS |
35 | F | 3 | kidney | IF | Mesenchymal TPM3::NTRK1 rearranged neoplasia (low-grade) |
36 | M | 2 | right arm | IF | Mesenchymal low-grade myofibroblastic neoplasia |
37 | M | 1 | kidney | HGUSCS/cellular mesoblastic nephroma | Mesenchymal EML4::NTRK3 rearranged neoplasia (high grade) |
38 | F | 2 | NA | IF | Mesenchymal CLIP::RAF1 rearranged neoplasia (low-grade) |
39 | F | 0.25 | head and neck (tongue) | Infantile TRK-rearranged mesenchymal tumor | Spindle cell mesenchymal RPBMS::NTRK3 rearranged neoplasia |
40 | F | 12 | arm | HGUSCS | High-grade undifferentiated pleomorphic sarcoma |
41 | F | 5 | upper limb | TRK-rearranged mesenchymal tumor | TRK-rearranged mesenchymal tumor |
42 | M | 2 | kidney | High-grade infantile TRK-rearranged mesenchymal tumor | Pediatric NTRK-rearranged spindle cell neoplasm |