Letter: Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease
Notice bibliographique
Résumé
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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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,001 |
| Méta-épidémiologie (sens large) | 0,002 | 0,001 |
| Bibliométrie | 0,001 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,001 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».