Hereditary Leiomyomatosis and Renal Cell Cancer in a Patient With Isolated Uterine Leiomyomas
Bibliographic record
Abstract
BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare autosomal dominant syndrome that is characterized by renal cell carcinoma, cutaneous leiomyomas, and uterine leiomyomas. Although HLRCC is usually identified in individuals with multiple cutaneous leiomyomas or a personal or family history of renal cell carcinoma, advances in histopathology have allowed detection of HLRCC in myomectomy and hysterectomy specimens. CASE: A 36-year-old patient with a large leiomyoma was referred to gynecology for heavy menstrual bleeding. After no response to medical management, she proceeded with elective myomectomy. Fumarate hydratase (FH) immunohistochemical staining of the myomectomy specimen and subsequent molecular genetic analysis of the FH gene confirmed a diagnosis of HLRCC. CONCLUSION: As more patients with HLRCC are identified with a primary presentation of leiomyomas, it is essential that gynecologists are familiar with this diagnosis. Health care professionals should inquire about skin lesions and family history of renal cell carcinoma in patients with symptomatic leiomyomas and refer patients with risk factors or pathology findings suggestive of HLRCC for genetic counseling.
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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 | 0.000 |
| 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) | 0.000 | 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".