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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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) | 0.000 | 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 teacher head, 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".