Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

Abstract

Patients with mutations in exon 14 or 15 were least likely to develop meningiomas. Cumulative risk of cranial meningioma to age 50 years was 70% for exons 1-3, 81% for exons 4-6, 49% for exons 7-9, 56% for exons 10-13, and 28% for exons 14-15. In the cohort of 411 patients, no overall gender bias was found for occurrence of meningioma in NF2 disease. Cumulative incidence of meningioma was close to 80% by 70 years of age for both males and females, but incidence by age 20 years was slightly increased in males (male 25%, female 18%; p=0.023). Conversely, an increased risk of meningiomas in women with mosaic NF2 disease was also found.

Multiple faces of children and juvenile meningiomas: A report of single-center experience and review of literature

“…Series without proven sex domination [6] alternate with series documenting male predominance [7][8][9]. Santos et al [10] explain male predominance by the absence of the effect of sex hormones (which serum level is low in children) on steroid receptors in meningioma cells.…”

“…Sporadic tumors have a strong tendency to invade brain and because of that, a short-term prognosis is worse [2]. Although NF2-associated lesions do not invade nervous tissue so aggressively, their long-term prognosis is much more unfavorable [9]. The reason for this is multiplicity of meningiomas which are more numerous in neurofibromatosis group.…”

Recent developments in brain tumor predisposing syndromes

“…The region of the gene could also be of importance. Patients with mutations in the 3' region have significantly lower risk of developing meningiomas compared to patients with mutations in the 5' region of the gene [32]. (1) Café au lait macules (6) (2) Neurofibromas (2) or plexiform neurofibroma (1) (3) Freckling of armpits or groin (4) Optic pathway glioma (5) Lisch nodules (Iris hamartoma) (2) (6) Dysplasia of the sphenoid bone or the long bone cortex (7) First degree relative with NF1…”

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome

“…Bei 1-10 % der Patienten zeigt sich allerdings eine multifokale Manifestation im ZNS. Auch etwa die Hälfte der Patienten mit NF2 entwickelt Meningeome, aber nur bei 4 % der NF2-Patienten treten diese multipel auf [32]. Bei Patienten mit Keimbahnmutationen in SMARCB1 sind multiple Meningeome bei gleichzeitig auftretenden Schwannomen beobachtet worden (Übersicht in [18] …”