Education
Bibliographic record
Abstract
Background: Dermatofibrosarcoma protuberans (DFSP) is a dermal and subcutaneous intermediate tumour.Compared to other techniques, biopsy is not only a rapid outpatient procedure but also the optimal choice for unresectable patients with cutaneous tumor before neoadjuvant therapy.In DFSP, the rarity of tumours, atypical clinical manifestation and uncommon histological features may cause diagnosis pitfalls in the limited biopsy samples.The most remarkable cytogenetic characteristic of DFSP is the formation of the COL1A1-PDGFB fusion gene.The aim of this study was to analyse the clinical application value of fluorescence in situ hybridization (FISH) in biopsy of DFSP.Design: Twenty-three consecutive biopsy specimens of DFSP, collected from 2007 to 2014, were reviewed for clinicopathological features and immunohistochemical staining results, and detected with the COL1A1/PDGFB Fusion Probe and the PDGFB Break Apart Probe using FISH analysis.Controls included 5 fibromatosis and dermatofibromas.The positive criteria for COL1A1-PDGFB gene fusion and PDGFB rearrangement were both 10% and more of the cells showed meaningful signals.Results: The 23 tumour samples consisted of 10 punch biopsies and 13 shave biopsies (11 males and 12 females; mean age at diagnosis, 37 y; range, 14 to 75 y).Eighteen conventional DFSP, 1 Bednar tumour, 2 myxoid DFSP and 2 DFSP with fibrosarcomatous areas were included in the group.CD34 expression was strong and extensive in the spindle cell component in 19 cases (83%) of DFSP, including FS-DFSP, whereas one case of a conventional subtype was negative for CD34;One case of a conventional subtype and 2 myxoid subtypes had patchy CD34 expression.SMA was focal positive staining in 3 cases (13%).All cases were negative for desmin, S-100 protein, myogenin, Bcl-2, CD99, p16, p63, cytokeratin and EMA.In FISH detection, 21/23 cases (91%) were both positive for the COL1A1-PDGFB fusion signal and the PDGFB break apart signal.The percentage of COL1A1-PDGFB fusion gene was above 70% in 20/21 (95.2%) of DFSP.A PDGFB split signal pattern was observed in approximately 20%-80% of the interphase tumour nuclei.Conclusions: This is one of the few study to demonstrate the great value of detecting COL1A1-PDGFB fusion translocation by both the Fusion Probe and the Break Apart Probe in biopsies of DFSP using FISH analysis.As a molecular cytogenetic technique, FISH could become a standard procedure to confirm unusual clinical presentation and validate complicated and suspected diagnosis in the routine biopsy of DFSP.
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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 | 0.001 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.004 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.849 | 0.672 |
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".