Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of <i>RET</i> : Figure 1
Bibliographic record
Abstract
Editor—Germline mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia (MEN) type 2A, 2B, and familial medullary thyroid carcinoma (FMTC). MEN 2A is characterised primarily by medullary thyroid carcinoma (MTC), parathyroid hyperplasia, and phaeochromocytoma. MEN 2B has additional stigmata including a marfanoid habitus, mucosal neuromas, and corneal nerve thickening. In FMTC, the only lesion present is MTC. Although characteristic of MEN 2B, prominent corneal nerves have been noted in subjects with MEN 2A. We have studied a family presenting with MTC and corneal nerve thickening (CNT), but no evidence of MEN 2 related disease outside the thyroid gland (fig 1). The proband (III.1) was found to have prominent corneal nerves on routine ophthalmological examination in his late 30s. No further action was taken and he presented with a palpable thyroid mass at the age of 53. Figure 1 A truncated pedigree of the family is shown. Filled symbols indicate affected subjects. The letters below the symbols refer to the site of cancer, the numbers following the abbreviations indicate age at diagnosis. MTC, medullary thyroid cancer; PSU, primary site unknown; d, age at death; CNT, corneal nerve thickening. MEN 2B was suspected and he was referred for laboratory screening tests for MTC and phaeochromocytoma. Serum calcitonin was raised at 4090 ng/l (normal range <60 ng/l). Serum calcium and phosphorus were normal. Twenty four hour urinary total catecholamine, metanephrine, and vanillylmandelic acid levels were within normal limits. A thoracic and abdominal CT scan performed before surgery was normal and scanning of the neck confirmed the presence of the right thyroid mass. The patient underwent a total thyroidectomy and pathological examination indicated bilateral MTC with extension beyond the capsule. His endocrinologist referred him for a genetic evaluation with a diagnosis of MEN 2B. However, other than CNT, he and his relatives …
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.000 |
| Research integrity | 0.005 | 0.004 |
| Insufficient payload (model declined to judge) | 0.006 | 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".