# Meningioma

> Página oficial: https://raras.org/doenca/meningioma
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 2495 — https://www.orpha.net/en/disease/detail/2495
- **CID-10**: D32.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É um tumor que geralmente cresce lentamente e se prende à dura-máter, uma das membranas que envolvem o cérebro e a medula espinhal. Ele é formado por células anormais que se originam nessas membranas (as meninges). Ocorre principalmente em adultos, sendo mais comum em mulheres, e pode apresentar diversas formas quando analisado ao microscópio. Entre os vários tipos, os mais comuns são os meningiomas meningotelial, fibroso e transicional. A maioria dos meningiomas são tumores de Grau I, segundo a classificação da OMS (Organização Mundial da Saúde), enquanto alguns são de Grau II ou III. A maioria dos tipos tem um comportamento semelhante, mas alguns subtipos têm maior probabilidade de retornar (recidivar) e seguir um curso mais agressivo da doença.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Not applicable

## Sinais e sintomas (76 fenótipos HPO)

- **Compressão do tronco cerebral** — HPO: HP:0002512 (Raro (<5%))
- **Meningioma** — HPO: HP:0002858
- **Início na idade adulta** — HPO: HP:0003581
- **Dor de ouvido** — HPO: HP:0030766 (Raro (<5%))
- **Morfologia anormal do cerebelo** — HPO: HP:0001317 (Ocasional (29-5%))
- **Oftalmoplegia** — HPO: HP:0000602 (Ocasional (29-5%))
- **Diminuição lenta da acuidade visual** — HPO: HP:0007924 (Ocasional (29-5%))
- **Déficit motor funcional** — HPO: HP:0004302 (Ocasional (29-5%))
- **Neoplasia da pele** — HPO: HP:0008069 (Raro (<5%))
- **Náusea e vômito** — HPO: HP:0002017 (Frequente (79-30%))
- **Impotência** — HPO: HP:0000802 (Frequente (79-30%))
- **Hipogonadismo hipogonadotrófico** — HPO: HP:0000044 (Frequente (79-30%))
- **Comprometimento cognitivo** — HPO: HP:0100543 (Ocasional (29-5%))
- **Nível diminuído de ACTH circulante** — HPO: HP:0002920 (Frequente (79-30%))
- **Músculos extraoculares fracos** — HPO: HP:0007715 (Ocasional (29-5%))
- **Neoplasia da hipófise anterior** — HPO: HP:0011750 (Ocasional (29-5%))
- **Anormalidade da função sensorial central** — HPO: HP:0011730 (Ocasional (29-5%))
- **Distúrbio da marcha** — HPO: HP:0001288 (Ocasional (29-5%))
- **Comprometimento progressivo da função pulmonar** — HPO: HP:0006520 (Raro (<5%))
- **Labilidade emocional** — HPO: HP:0000712 (Raro (<5%))
- **Estradiol sérico diminuído** — HPO: HP:0008214 (Frequente (79-30%))
- **Meningioma espinhal** — HPO: HP:0100010 (Ocasional (29-5%))
- **Anormalidade no teste de acuidade visual** — HPO: HP:0030532 (Ocasional (29-5%))
- **Fraqueza muscular do membro inferior** — HPO: HP:0007340 (Ocasional (29-5%))
- **Neurofibromas** — HPO: HP:0001067 (Ocasional (29-5%))
- **Nível diminuído de cortisol circulante** — HPO: HP:0008163 (Frequente (79-30%))
- **Convulsão** — HPO: HP:0001250 (Frequente (79-30%))
- **Teste de perimetria cinética anormal** — HPO: HP:0030591 (Ocasional (29-5%))
- **Concentração sérica de testosterona diminuída** — HPO: HP:0040171 (Frequente (79-30%))
- **Hemiparesia** — HPO: HP:0001269 (Ocasional (29-5%))
- **Amenorreia** — HPO: HP:0000141 (Frequente (79-30%))
- **Nível diminuído de hormônio luteinizante circulante** — HPO: HP:0030344 (Frequente (79-30%))
- **Deficiência secundária de hormônio do crescimento** — HPO: HP:0008240 (Frequente (79-30%))
- **Fisiologia anormal do hipotálamo** — HPO: HP:0012285 (Ocasional (29-5%))
- **Aumento da sensibilidade à radiação ionizante** — HPO: HP:0011133 (Muito frequente (99-80%))
- **Anormalidade da função motora central** — HPO: HP:0011442 (Ocasional (29-5%))
- **Quebra cromossômica induzida por radiação ionizante** — HPO: HP:0010997 (Muito frequente (99-80%))
- **Hemianopsia bitemporal** — HPO: HP:0030521 (Frequente (79-30%))
- **Incontinência urinária** — HPO: HP:0000020 (Raro (<5%))
- **Crise de início focal** — HPO: HP:0007359 (Frequente (79-30%))
- _...e mais 36 sintomas. Ver https://raras.org/doenca/meningioma._

## Genes associados (13)

- **AKT1** — RAC-alpha serine/threonine-protein kinase [Disease-causing germline mutation(s) in]
  - Função: AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, gro
- **PTEN** — Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Candidate gene tested in]
  - Função: Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase
- **MN1** — Transcriptional activator MN1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fu
- **SMARCB1** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 [Disease-causing germline mutation(s) in]
  - Função: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhi
- **TERT** — Telomerase reverse transcriptase [Disease-causing somatic mutation(s) in]
  - Função: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somati
- **PDGFB** — Platelet-derived growth factor subunit B [Disease-causing germline mutation(s) in]
  - Função: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubM
- **PIK3CA** — Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [Disease-causing somatic mutation(s) in]
  - Função: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:
- **NF2** — Merlin [Disease-causing somatic mutation(s) in]
  - Função: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with
- **SUFU** — Suppressor of fused homolog [Disease-causing germline mutation(s) in]
  - Função: Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340,
- **BAP1** — Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 [Disease-causing somatic mutation(s) in]
  - Função: Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expre
- **SMARCE1** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry ou
- **SMO** — Spermine oxidase [Disease-causing somatic mutation(s) in]
  - Função: Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on th
- **TRAF7** — E3 ubiquitin-protein ligase TRAF7 [Disease-causing somatic mutation(s) in]
  - Função: E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-media

## Medicamentos em desenvolvimento (13)

- MIFEPRISTONE — Fase Phase 3 (Progesterone receptor antagonist)
- TRANEXAMIC ACID — Fase Phase 3 (Plasminogen inhibitor)
- OCTREOTIDE — Fase Phase 2 (Somatostatin receptor agonist)
- IPILIMUMAB — Fase Phase 2 (Cytotoxic T-lymphocyte protein 4 inhibitor)
- EVEROLIMUS — Fase Phase 2 (FK506-binding protein 1A inhibitor)
- NIVOLUMAB — Fase Phase 2 (Programmed cell death protein 1 inhibitor)
- PASIREOTIDE — Fase Phase 2 (Somatostatin receptor 1 agonist)
- LUTETIUM OXODOTREOTIDE LU-177 — Fase Phase 2 (Somatostatin receptor binding agent)
- LUTETIUM OXODOTREOTIDE — Fase Phase 2 (Somatostatin receptor binding agent)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016642

## Ensaios clínicos ativos (40)

- **NCT06955169** [RECRUITING]: Comparing the Radiopharmaceutical Drug, [177Lu]Lu-DOTATATE, to Standard of Care Treatment for Patients With Meningioma That Has Come Back After Prior Treatment — https://clinicaltrials.gov/study/NCT06955169
- **NCT06607692** [RECRUITING]: Study in Children and Adolescents of 177Lu-DOTATATE (Lutathera®) Combined With the PARP Inhibitor Olaparib for the Treatment of Recurrent or Relapsed Solid Tumours Expressing Somatostatin Receptor (SSTR) (LuPARPed). — https://clinicaltrials.gov/study/NCT06607692
- **NCT05278208** [RECRUITING]: Lutathera for Treatment of Recurrent or Progressive High-Grade CNS Tumors — https://clinicaltrials.gov/study/NCT05278208
- **NCT02523014** [RECRUITING]: Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas — https://clinicaltrials.gov/study/NCT02523014
- **NCT07413796** [RECRUITING]: Comparison of Skin Closure Techniques in Oncological Neurosurgical Procedures: Intradermal Running Suture Versus Transdermal Interrupted Sutures — https://clinicaltrials.gov/study/NCT07413796
- **NCT06275919** [RECRUITING]: Regorafenib for Recurrent Meningioma (MIRAGE Trial) — https://clinicaltrials.gov/study/NCT06275919
- **NCT05940493** [RECRUITING]: Abemaciclib in Newly Diagnosed Meningioma Patients — https://clinicaltrials.gov/study/NCT05940493
- **NCT06104930** [RECRUITING]: Plasma Extracellular Vesicles in Meningioma Patients — https://clinicaltrials.gov/study/NCT06104930
- **NCT04792463** [RECRUITING]: Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome — https://clinicaltrials.gov/study/NCT04792463
- **NCT05425004** [RECRUITING]: Cabozantinib for Patients With Recurrent or Progressive Meningioma — https://clinicaltrials.gov/study/NCT05425004

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor das meninges](https://raras.org/doenca/tumor-das-meninges) — ORPHA:252025 — 76 sintomas em comum
- [Glioma](https://raras.org/doenca/glioma) — ORPHA:182067 — 26 sintomas em comum
- [Deficiência de hormônio pituitário adquirida](https://raras.org/doenca/deficiencia-de-hormonio-pituitario-adquirida) — ORPHA:95502 — 19 sintomas em comum
- [Encefalite infecciosa](https://raras.org/doenca/encefalite-infecciosa) — ORPHA:98252 — 18 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 17 sintomas em comum
- [Schwannomatose de espectro clínico completo NF2-relacionada](https://raras.org/doenca/schwannomatose-de-espectro-clinico-completo-nf2-relacionada) — ORPHA:637 — 17 sintomas em comum
- [Adrenoleucodistrofia ligada ao X](https://raras.org/doenca/adrenoleucodistrofia-ligada-ao-x) — ORPHA:43 — 16 sintomas em comum
- [Craniofaringioma](https://raras.org/doenca/craniofaringioma) — ORPHA:54595 — 15 sintomas em comum
- [Tumor neuronal-glial misto](https://raras.org/doenca/tumor-neuronal-glial-misto) — ORPHA:251934 — 14 sintomas em comum
- [Malformação dos seios durais](https://raras.org/doenca/malformacao-dos-seios-durais) — ORPHA:97339 — 14 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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