TABLE 1.
Patient summary
| Patient | Age | Sex | Location | Diagnosis | RNA-Seq | FISH |
|---|---|---|---|---|---|---|
| A1 | 58 | F | Breast, L | DFSP | COL6A3-PDGFD | PDGFD |
| A2 | 29 | F | Breast, L | DFSP | COL6A3-PDGFD | PDGFD |
| A3 | 36 | F | Breast, L | DFSP | COL6A3-PDGFD | PDGFD |
| A4 | 22 | F | Breast, L | DFSP | PDGFD | |
| A5 | 67 | M | Lung* | F-DFSP | COL1A1-PDGFB | |
| A6 | 26 | F | Abdomen | F-DFSP | COL1A1-PDGFB | Negative |
| A7 | 16 | M | Groin | DFSP | COL1A1-PDGFB | Negative |
| A8 | 35 | M | Shoulder | DFSP | PDGFB | |
| A9 | 23 | F | Shoulder | DFSP | PDGFB | |
| A10 | 61 | F | Groin | DFSP | PDGFB | |
| A11 | 49 | M | Neck | F-DFSP | PDGFB | |
| A12 | 50 | F | Back | DFSP | PDGFB | |
| A13 | 45 | F | Groin | DFSP | PDGFB | |
| A14 | 28 | F | Back | DFSP | PDGFB | |
| A15 | 32 | F | Foot | F-DFSP | PDGFB | |
| A16 | 34 | F | Back | F-DFSP | PDGFB | |
| A17 | 28 | F | Thigh | DFSP | PDGFB | |
| A18 | 34 | M | Scalp | DFSP | PDGFB | |
| A19 | 71 | F | Groin | F-DFSP | PDGFB | |
| A20 | 74 | M | Thigh | F-DFSP | PDGFB | |
| A21 | 20 | F | Hand | P-DFSP | PDGFB | |
| A22 | 29 | M | Back | F-DFSP | PDGFB | |
| A23 | 19 | M | Hand | F-DFSP | PDGFB | |
| A24 | 44 | F | Abdomen | DFSP | COL1A1-PDGFB | |
| A25 | 83 | F | Back | DFSP | COL1A1-PDGFB | |
| A26 | 43 | F | Breast | DFSP | COL1A1-PDGFB | |
| A27 | 69 | M | Thigh | DFSP | COL1A1-PDGFB | |
| A28 | 43 | F | Scalp | DFSP | COL1A1-PDGFB | |
| A29 | 56 | M | Chest | F-DFSP | COL1A1-PDGFB | |
| A30 | 36 | F | Back | DFSP | COL1A1-PDGFB | |
| A31 | 25 | M | Thigh | DFSP | COL1A1-PDGFB | |
| A32 | 33 | M | Chest | DFSP | COL1A1-PDGFB | |
| A33 | 50 | M | Back | DFSP | COL1A1-PDGFB | |
| A34 | 47 | F | Thigh | DFSP | COL1A1-PDGFB | |
| A35 | 61 | M | Chest | DFSP | COL1A1-PDGFB | |
| A36 | 79 | M | Chest | F-DFSP | COL1A1-PDGFB | |
| A37 | 39 | M | Chest | DFSP | COL1A1-PDGFB | |
| A38 | 34 | M | Abdomen | DFSP | COL1A1-PDGFB | |
| A39 | 39 | F | Arm | DFSP | COL1A1-PDGFB | |
| A40 | 34 | M | Abdomen | DFSP | COL1A1-PDGFB | |
| A41 | 35 | F | Shoulder | P-DFSP | COL1A1-PDGFB | |
| A42 | 29 | F | Axilla | DFSP | COL1A1-PDGFB | |
| A43 | 17 | F | Breast | DFSP | COL1A1-PDGFB | |
| A44 | 37 | F | Abdomen | DFSP | COL1A1-PDGFB | |
| A45 | 67 | F | Buttock | DFSP | COL1A1-PDGFB | |
| A46 | 49 | M | Thigh | DFSP | COL1A1-PDGFB | |
| A47 | 37 | F | Neck | DFSP | COL1A1-PDGFB | |
| A48 | 41 | F | Groin | DFSP | COL1A1-PDGFB | |
| A49 | 49 | M | Shoulder | F-DFSP | COL1A1-PDGFB | |
| A50 | 61 | M | Abdomen | DFSP | COL1A1-PDGFB | |
| A51 | 53 | M | Sacrum | DFSP | COL1A1-PDGFB | |
| A52 | 53 | M | Buttock | F-DFSP | COL1A1-PDGFB | |
| A53 | 35 | F | Arm | DFSP | COL1A1-PDGFB | |
| A54 | 51 | M | Scalp | DFSP | COL1A1-PDGFB | |
| A55 | 28 | F | Back | DFSP | COL1A1-PDGFB | |
| A56 | 52 | F | Back | DFSP | COL1A1-PDGFB | |
| A57 | 54 | F | Chest | DFSP | COL1A1-PDGFB | |
| A58 | 70 | M | Arm | F-DFSP | COL1A1-PDGFB | |
| A59 | 39 | F | Sacrum | DFSP | COL1A1-PDGFB | |
| A60 | 35 | F | Abdomen | DFSP | PDGFB | |
| A61 | 35 | M | Chest | DFSP | PDGFB | |
| A62 | 26 | F | Hand | DFSP | PDGFB | |
| A63 | 51 | F | Breast | F-DFSP | Negative | |
| B1 | 51 | F | Breast | DFSP | PDGFD | |
| B2 | 38 | F | Breast | DFSP | PDGFD | |
| B3 | 40 | F | Breast | F-DFSP | PDGFB | |
| B4 | 79 | F | Breast | DFSP | PDGFB | |
| B5 | 31 | F | Breast | F-DFSP | PDGFB | |
| B6 | 45 | F | Breast | DFSP | PDGFB | |
| B7 | 48 | F | Chest wall | DFSP | PDGFB | |
| B8 | 38 | F | Breast | DFSP | PDGFB | |
| B9 | 44 | F | Breast | DFSP | PDGFB | |
| B10 | 36 | F | Breast | DFSP | PDGFB | |
| B11 | 40 | F | Breast | DFSP | PDGFB | |
| B12 | 31 | F | Breast | DFSP | PDGFB | |
| B13 | 26 | F | Breast | DFSP | PDGFB | |
| B14 | 34 | F | Breast | DFSP | PDGFB | |
| B15 | 36 | F | Chest wall | DFSP | Negative |
Cohort A: Prospective molecular testing of patients diagnosed with dermatofibrosarcoma protuberans over approximately 1 year. Cohort B: Retrospective molecular testing of patients diagnosed with dermatofibrosarcoma protuberans arising specifically on the breast or upper chest over approximately one decade. Novel variant highlighted in bold.
Abbreviations: DFSP, dermatofibrosarcoma protuberans; F, fibrosarcomatous; P, pigmented; F, female; L, left; M, male; FISH, fluorescence in situ hybridization.
*
Primary leg with lung metastasis.