TABLE I.
Patients’ characteristics and skin findings
| UPN | Age at screening/diagnosis of DFSP; sex |
Prior therapies | Treatment at screening or diagnosis of skin lesions |
Skin lesions (no.) | Size range (mm) |
Lesion(s) biopsied |
Location, size | Histologic findings |
Karyotype | FISH | RT-PCR | Final diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADA1 | 22 y; F | PEG-ADA Genetically corrected autologous lymphocytes |
PEG-ADA | Slightly raised right lower leg plaque (1) | 11 | 1 | Right lower leg, slightly raised plaque, 10 × 11 mm | CD34+ spindle cell lesion | Not done | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | DFSP |
| ADA3 | 12 y; M | T cell–depleted haploidentical BMT | PEG-ADA | Atrophic plaques (4) | 4-11 | 3 | Right lower leg, depressed plaque, 11 × 6 mm | CD34+ spindle cell lesion | Not done | Not done | Not informative | |
| Left upper abdomen, depressed plaque, 6 × 4 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PGFB fusion signal | Not informative | DFSP | |||||||
| Right gluteal, 5 × 3 mm | CD34+ spindle cell lesion | Not done | COL1A1-PGFB fusion signal | Not informative | ||||||||
| ADA4 | 9 y; M | T cell–depleted haploidentical BMT | PEG-ADA | Atrophic plaques (5) | 3-10 | 1 | Right anterior thigh, depressed plaque, 8 × 4 mm | CD34+ spindle cell lesion | Normal | Negative | Not informative | |
| Left axillary depressed plaque, 7 × 5 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | DFSP | |||||||
| 3 depressed plaques, 3-10 mm | Clinically suspicious for DFSP. No biopsy | NA | NA | NA | ||||||||
| ADA5 | 7 y; M | PEG-ADA | PEG-ADA | Atrophic plaques (2) | 5-7 | 1 | Right inner arm plaque, 5 × 5 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PGFB fusion signal | Negative | DFSP |
| Right lower abdomen, slightly depressed plaque, 7 × 4 mm | Clinically suspicious for DFSP; no biopsy | NA | NA | NA | ||||||||
| ADA7 | 5 y; M | T cell–depleted haploidentical BMT | PEG-ADA | Atrophic plaques (12) | 3-16 | 1 | Right lateral abdomen, depressed plaque, 13 × 10 mm | CD34+ spindle cell lesion | Not done | Equivocal | COL1A1-PDGFB fusion transcript | DFSP |
| 11 depressed plaques from 3-16 mm | Clinically suspicious for DFSP. No biopsy | NA | NA | NA | ||||||||
| ADA12 | 12 y; F | Genetically corrected autologous BMT | PEG-ADA | Left groin subcutaneous lump/nodule (1) | NA | 1 | Left inguinal subcutaneous fibrotic lump, size not available | GCF | Not done | Not informative | Not informative | GCF |
| Atrophic plaques (7) | 0.5-20 | 2 | Right lateral chest wall, depressed plaque, 10 × 12 mm | CD34+ spindle cell lesion | Not done | Not done | Not done | |||||
| Right anterior shoulder, 0.6 × 0.5 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13 | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | DFSP | |||||||
| 5 flat to depressed plaques, 3-20 mm | Clinically suspicious for DFSP; no biopsy | NA | NA | NA | ||||||||
| ADA14 | 2 y; F | PEG-ADA | Genetically corrected autologous BMT | Atrophic plaques (14) | 2-14 | 6 | Right chest wall nodule within a depressed plaque, 5 × 5 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PGFB fusion signal | Not informative | DFSP |
| Medial right buttock, flat to slightly raised plaque, 13 × 8 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | ||||||||
| Right upper abdomen, depressed plaque, 10 × 5 mm | CD34+ spindle cell lesion | Not done | COL1A1-PGFB fusion signal | Not informative | ||||||||
| Right lower abdomen, depressed, 8 × 3 mm | CD34+ spindle cell lesion | Not done | Equivocal | Not informative | ||||||||
| Left abdomen (flank), depressed plaque, 8 × 3 mm | CD34+ spindle cell lesion | Not done | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | ||||||||
| Left calf, depressed plaque, 10 × 10 mm | CD34+ spindle cell lesion | Not done | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | ||||||||
| Left waistband, violaceous soft flat plaque, site of BM, 14 × 5 mm | Clinically suspicious for DFSP; no biopsy | NA | NA | NA | ||||||||
| 8 depressed plaques from 2-8 mm | Clinically suspicious for DFSP; no biopsy | NA | NA | NA | ||||||||
| ADA16 | 2 y; M | Genetically corrected autologous BMT | Genetically corrected autologous BMT | Left groin lump (1) | 10 | 1 | Left thigh, subcutaneous lump, 10 × 10 mm | GCF | Not done | COL1A1-PGFB fusion signal | COL1A1-PDGFB fusion transcript | GCF |
| Atrophic plaques (5) | 3-11 | 3 | Right inner arm, depressed plaque, 5 × 3 mm | CD34+ spindle cell lesion | t(17;22)(q11;q13) | COL1A1-PDGFB fusion signal | Not informative | DFSP | ||||
| Right abdominal wall, depressed plaque, 5 × 4 mm | CD34+ spindle cell lesion | Not done | Not informative | Not informative | ||||||||
| Left supraclavicular depressed plaque, 9 × 3 mm | CD34+ spindle cell lesion | Not done | COL1A1-PDGFB fusion signal | COL1A1-PDGFB fusion transcript | ||||||||
| 2 depressed plaques, right lateral upper thigh, 6 × 4 mm and Midsuprapubic, 11 × 5 mm | Clinically suspicious for DFSP; no biopsy done | NA | NA | NA | ||||||||
| ADA6 | 7 y; M | PEG-ADA T cell–depleted haploidentical BMT |
PEG-ADA | Atrophic plaques (2) | 5-6 | 1 | Paucicellular spindle cell lesion | |||||
| ADA9 | 4 y; M | PEG-ADA | PEG-ADA | Slightly raised plaque | 8 | 1 | Scar | |||||
| ADA10 | 3 y; M | PEG-ADA | Genetically corrected autologous BMT | Papules (2) | 3 | 2 | Mastocytoma | |||||
| ADA13 | 28 y; F | PEG-ADA Genetically corrected autologous lymphocytes Genetically corrected autologous BMT |
PEG-ADA | None | NA | NA | NA |
BM, Bone marrow; BMT, bone marrow transplantation; NA, not applicable.