Dermatofibrosarcoma Protuberans in 3 Patients with ADA-SCID
Bibliographic record
Abstract
Abstract Dermatofibrosarcoma protuberans (DFSP) is a rare malignant skin tumor with characteristic cytogenetic findings (t(17;22)(q22;q13)) resulting in a fusion COL1A-PDGFB gene. Here we report an association between DFSP and Adenosine Deaminase Deficient Severe Combined Immunodeficiency (ADA-SCID), a rare congenital immunodeficiency syndrome. We observed DFSP in 3 ADA-SCID patients. The first patient is a 3.6-year-old boy who developed a 1.5 cm soft tissue mass on the right medial thigh. The second patient is a 2.4-year-old girl with 12 plaques (0.4– 0.8 cm) distributed on the trunk, thigh and lower extremities. The third patient is a 6-year-old boy with 5 depressed plaques ranging from 1–2 cm. The diagnosis in the first two patients was confirmed by immunohistochemistry (CD34 positive/Factor XIIIa negative) and demonstration of the COL1A1-PDGFB fusion by Fluorescent In Situ Hybridization (FISH). In the third patient, lesional tissue was positive for CD34 and negative for Factor XIIIa. FISH was inconclusive and further molecular analysis (RT-PCR) is ongoing. We came across two additional ADA-SCID patients in the literature who developed DFSP and we conclude therefore that this unique and unreported association between two rare disease entities merits further study. Importantly, our observations describe the first 2 cases presenting with multiple multicentric DFSPs. DFSP may be overlooked particularly in children who may present with an indolent plaque-like lesion mistaken as birthmark or benign vascular proliferation. DFSP in ADA-SCID may be caused by an unknown virus in the setting of defective immune surveillance. The search for a viral etiology is ongoing. Alternatively, the increased DNA breakage characteristic of ADA-SCID may play a role in the onset of this malignancy.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".