Paratesticular/inguinal <scp>SMARCB1</scp>/<scp>INI1</scp> deficient carcinomas with yolk sac tumour‐like differentiation are aggressive somatic malignancies
Bibliographic record
Abstract
AIMS: Extragonadal yolk sac tumour (YST) is rare, and may present a diagnostic challenge. YST differentiation was recently reported in some somatically derived tumours in the sinonasal location and in the female genital tract, together with a SMARCB1/INI1 loss. We report two paratesticular/inguinal tumours with striking morphological and immunohistochemical similarities with YST, further expanding the spectrum of extragonadal tumours with YST-like morphology and SMARCB1/INI1 loss. METHODS AND RESULTS: Patients were 13- and 27-year-old males who presented with a 1-cm inguinal mass and a 4.6-cm spermatic cord mass, respectively. Both neoplasms showed histological and immunohistochemical features in keeping with YST. Immunohistochemically, the neoplastic cells were diffusely positive for AE1/AE3, spalt-like transcription factor 4 (SALL4) and glypican-3; alpha-fetoprotein (AFP) was positive in one of two tumours. S100, SMA, CD34 and brachyury were negative in both tumours. Pre-operative serum AFP levels were normal in both patients. Although the initial diagnostic consideration was extragonadal YST, the diagnostic work-up revealed complete loss of SMARCB1/INI1 on immunohistochemistry and absence of isochromosome 12p by fluorescence in-situ hybridisation. Both patients had an aggressive clinical course with rapid disease progression and widespread metastatic spread. CONCLUSIONS: Somatically derived tumours with YST-like morphology at an extragonadal location present a potential diagnostic pitfall. This type of neoplasm has not been previously reported in males at this location. Therefore, SMARCB1/INI1 should be included in the immunohistochemistry work-up of any neoplasm that morphologically resembles YST at an extragonadal site, even in the setting of positive germ cell tumour markers, as the correct diagnosis has prognostic and therapeutic implications.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".