Letter: Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease
Bibliographic record
Abstract
To the Editor: We read with great interest the review article of “Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease” by Kerr et al.1 As stated in the Conclusion, the authors present a comprehensive review of the familial syndromes associated with meningiomas, but only very briefly mention Rubinstein-Taybi syndrome (RTS) that has been reported to be associated with meningiomas. There have been a few reports on RTS-associated meningiomas, which include 9 patients (including 1 with multiple meningiomas; in the age range of 29 to 46 yr and median of 39 yr).2-6 A recent original article reported 5 meningiomas associated with RTS.2 RTS is a rare, multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). The vast majority (about 99%) of RTS cases occurs sporadically resulting from de novo heterozygous mutations; vertical transmission is extremely rare but has been reported.7,8 A number of studies have suggested that RTS has an increased risk of developing malignant and benign tumors including meningiomas, although the risk for malignant tumors in patients with RTS may be debatable.2 According to the studies in Dutch population, meningiomas were present in 8.3% of molecularly proven Dutch RTS individuals (4.6% of all Dutch RTS individuals) compared to < 0.1% in the general Dutch population.2 It has been noted that females are at greater risk than males in the development of meningiomas, with annual incidence rates of 10.5 cases per 100 000 females and 4.8 cases per 100 000 males.9 This difference is greatest prior to menopause, with the highest female-to-male ratio (3.15:1) in the 35 to 44 yr age group. However, the World Health Organization (WHO) grade II and III meningiomas occur at higher rates in males. Interestingly in RTS, all 9 reported patients with meningiomas are females including 1 with chordoid meningioma (WHO grade II). Despite the known sex predilection of meningiomas, the absence of male patients developing meningiomas in RTS is still surprising. This phenomenon deserves attention, although the small number of reported cases precludes any definitive statement being made about sex predilection. It is unclear if there is the male's inability to develop meningiomas in RTS, and the sex predilection of RTS-associated meningiomas is due to the gene mutation or inheritance of RTS and/or nongenetic meningioma pathogenesis. Further studies are needed to elucidate the mechanism by which meningiomas occur particularly in female patients with RTS. Disclosures The authors have no personal, financial, or institutional interest in any of the drugs, materials, or devices described in this article.
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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 | 0.002 | 0.020 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.002 | 0.004 |
| Open science | 0.003 | 0.001 |
| Research integrity | 0.017 | 0.020 |
| Insufficient payload (model declined to judge) | 0.004 | 0.004 |
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".