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ORPHA:178CID-10 · C76.7CID-11 · 2B5JOMIM 215400DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Início adultaHerança AD/Unknown

Cordomas são um tipo raro de câncer que se forma a partir de resquícios da notocorda (uma estrutura presente no desenvolvimento do embrião), na parte central do esqueleto, como na coluna vertebral e no crânio.

Em construçãohistóricoSugerir correção
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Introdução

O que você precisa saber de cara

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EM LINGUAGEM SIMPLES

Um chordoma é um tipo raro de tumor cancerígeno que pode ocorrer em qualquer parte da coluna, desde a base do crânio até o cóccix. Os chordomas crescem lentamente, estendendo‑se gradualmente para o osso e o tecido mole ao seu redor. Eles costumam recidivar após o tratamento e, em cerca de 40 por cento dos casos, o câncer se espalha (metastatiza) para outras áreas do corpo, como os pulmões.

Aproximadamente metade de todos os chordomas ocorre na base da coluna (sacro), cerca de um terço ocorre na base do crânio (occipital), e o restante ocorre nas vértebras cervicais (pescoço), torácicas (parte superior das costas) ou lombares (parte inferior das costas) da coluna. À medida que o chordoma cresce, ele pressiona as áreas adjacentes do cérebro ou da medula espinhal, levando aos sinais e sintomas da condição. Um chordoma em qualquer parte da coluna pode causar dor, fraqueza ou dormência nas costas, nos braços ou nas pernas. Um chordoma na base do crânio (chordoma occipital) pode levar à visão dupla (diplopia) e a dores de cabeça. Um chordoma que ocorre no cóccix (chordoma coccygeal) pode resultar em um nódulo grande o suficiente para ser sentido através da pele e pode causar problemas de função da bexiga ou do intestino.

Os chordomas tipicamente ocorrem em pessoas com a condição entre 40 e 70 anos de idade. Cerca de 5 por cento dos chordomas são diagnosticados em crianças. Por razões que não são claras, os homens são afetados cerca de duas vezes mais frequentemente que as mulheres.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
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Informacoes curadas por IA — podem conter imprecisoes

Cordomas são um tipo raro de câncer que se forma a partir de resquícios da notocorda (uma estrutura presente no desenvolvimento do embrião), na parte central do esqueleto, como na coluna vertebral e no crânio.

Pesquisas ativas
23 ensaios
72 total registrados no ClinicalTrials.gov
Publicações científicas
4.744 artigos
Último publicado: 2026 Apr 13
Medicamentos
6 com registro
FILGRASTIM, FIPRIMA, ZARZIO

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✓ 6 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
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FILGRASTIMFIPRIMAZARZIOGRANULOKINEFILGRASTINEFIL
Mais 10 moléculas em estudo para esta doença.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.06
United States
Início
Adult
🏥
SUS: Cobertura mínimaScore: 0%
CID-10: C76.7
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

94%prev.
Cordoma
Frequência: 15/16
50%prev.
Anomalia do desenvolvimento do giro frontal inferior
Frequência: 8/16
25%prev.
HP:0003596
Frequência: 4/16
19%prev.
Início juvenil
Frequência: 3/16
6%prev.
Astrocitoma
Frequência: 1/16
6%prev.
HP:0003584
Frequência: 1/16
7sintomas
Muito frequente (1)
Frequente (1)
Ocasional (4)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.

CordomaChordoma
Frequência: 15/1694%
Frequência: 4/1625%
Início juvenilJuvenile onset
Frequência: 3/1619%
AstrocitomaAstrocytoma
Frequência: 1/166%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico4.744PubMed
Últimos 10 anos200publicações
Pico2025128 papers
Linha do tempo
2026Hoje · 2026🧪 1998Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

Curadoria gene-doença

fontes oficiais
TBXT
PALB2Partner and localizer of BRCA2Major susceptibility factor inTolerante
VIAS BIOLÓGICAS (6)
Resolution of D-loop Structures through Holliday Junction IntermediatesHDR through Homologous Recombination (HRR)Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)Homologous DNA Pairing and Strand ExchangeImpaired BRCA2 binding to PALB2
MECANISMO DE DOENÇA

Breast cancer

A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
13.6 TPM
Testículo
10.3 TPM
Fibroblastos
10.2 TPM
Cérebro - Hemisfério cerebelar
8.7 TPM
Cerebelo
8.4 TPM
OUTRAS DOENÇAS (9)
Fanconi anemia complementation group NPALB2-related cancer predispositionchordomahereditary breast carcinoma
HGNC:26144UniProt:Q86YC2
TBXTT-box transcription factor TMajor susceptibility factor inTolerante
VIAS BIOLÓGICAS (6)
Epithelial-Mesenchymal Transition (EMT) during gastrulationGerm layer formation at gastrulationFormation of paraxial mesodermFormation of axial mesodermFormation of definitive endoderm
MECANISMO DE DOENÇA

Neural tube defects

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

OUTRAS DOENÇAS (3)
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromechordomaneural tube defects, susceptibility to
HGNC:11515UniProt:O15178
BRCA2Breast cancer type 2 susceptibility proteinMajor susceptibility factor inTolerante
VIAS BIOLÓGICAS (3)
Presynaptic phase of homologous DNA pairing and strand exchangeHDR through MMEJ (alt-NHEJ)Meiotic recombination
MECANISMO DE DOENÇA

Breast cancer

A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

OUTRAS DOENÇAS (17)
Wilms tumor 1Fanconi anemia complementation group D1breast-ovarian cancer, familial, susceptibility to, 2BRCA2-related cancer predisposition
HGNC:1101UniProt:P51587

Medicamentos e terapias

AFATINIBPhase 2

Mecanismo: Receptor protein-tyrosine kinase erbB-2 inhibitor

PALBOCICLIBPhase 2

Mecanismo: CDK6/cyclin D1 inhibitor

NIVOLUMABPhase 2

Mecanismo: Programmed cell death protein 1 inhibitor

IMATINIBPhase 2

Mecanismo: Tyrosine-protein kinase ABL inhibitor

CETUXIMABPhase 2

Mecanismo: Epidermal growth factor receptor erbB1 inhibitor

RELATLIMABPhase 2

Mecanismo: Lymphocyte activation gene 3 protein inhibitor

PEMETREXEDPhase 1

Mecanismo: GAR transformylase inhibitor

NILOTINIBPhase 1

Mecanismo: Tyrosine-protein kinase ABL inhibitor

AVELUMABPhase 1

Mecanismo: Programmed cell death 1 ligand 1 other

FILGRASTIMPhase 1

Mecanismo: Granulocyte colony stimulating factor receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

24.454 variantes patogênicas registradas no ClinVar.

🧬 BRCA2: NM_000059.4(BRCA2):c.219del (p.Gln73fs) ()
🧬 BRCA2: NM_000059.4(BRCA2):c.849dup (p.Gly284fs) ()
🧬 BRCA2: NM_000059.4(BRCA2):c.6914del (p.Lys2305fs) ()
🧬 BRCA2: NM_000059.4(BRCA2):c.518_520delinsT (p.Gly173fs) ()
🧬 BRCA2: NM_000059.4(BRCA2):c.3226del (p.Ser1075_Val1076insTer) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 17 variantes classificadas pelo ClinVar.

12
3
2
Patogênica (70.6%)
VUS (17.6%)
Benigna (11.8%)
VARIANTES MAIS SIGNIFICATIVAS
BRCA2: NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala) [Conflicting classifications of pathogenicity]
PALB2: NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) [Conflicting classifications of pathogenicity]
PALB2: NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) [Conflicting classifications of pathogenicity]
PALB2: NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) [Conflicting classifications of pathogenicity]
PALB2: NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) [Conflicting classifications of pathogenicity]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado1
3Fase 31
2Fase 235
1Fase 117
·Pré-clínico28
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 72 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Cordoma

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Selecione um estado ou use sua localização para ver resultados.

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 12 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

10 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

72 ensaios clínicos encontrados, 23 ativos.

Distribuição por fase
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NA🇺🇸 Estados Unidos
NCT01200680 · Genetic Clues to Chordoma Etiology: A Protocol to Identify S…Ativo
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NCT00496119 · Proton Beam Therapy for Chordoma PatientsAtivo
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NCT04486820 · Immunohistochemical Study of Chordomas to Improve Their Diag…Concluído
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NCT03955042 · Pemetrexed for the Treatment of ChordomaConcluído
PHASE1🇺🇸 Estados Unidos
NCT03623854 · Nivolumab and Relatlimab in Treating Participants With Advan…Concluído
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NCT03083678 · Afatinib in Locally Advanced and Metastatic ChordomaConcluído
PHASE2🇮🇹 Itália · 🇳🇱 Países Baixos · 🇬🇧 Reino Unido
NCT03110744 · CDK4/6 Inhibition in Locally Advanced/Metastatic ChordomaConcluído
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NCT03190174 · Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advance…Concluído
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NCT03058289 · A Phase 1/2 Safety Study of Intratumorally Dosed INT230-6Concluído
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NCT02802969 · Improvement of Local Control in Skull Base, Spine and Sacral…Concluído
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NCT01567046 · Studying Genes in Tissue Samples From Younger and Adolescent…Concluído
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NCT02520128 · A Study of IMRT in Primary Bone and Soft Tissue SarcomaConcluído
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PHASE2🇦🇺 Austrália · 🇧🇪 Bélgica · 🇨🇦 Canadá +6
NCT02383498 · QUILT-3.011 Phase 2 Yeast-Brachyury Vaccine ChordomaConcluído
PHASE2🇺🇸 Estados Unidos
NCT01924689 · Safety Study of Intratumoral Injection of Clostridium Novyi-…Concluído
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NCT01449149 · Proton Radiation for Chordomas and ChondrosarcomasConcluído
NA🇺🇸 Estados Unidos
NCT01046487 · Imatinib Mesylate And Cyclophosphamide In Metronomic Adminis…Concluído
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NCT01347307 · Stereotactic Body Radiotherapy for Spine TumorsConcluído
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NCT01344356 · Stereotactic Body Radiotherapy for Head and Neck TumorsConcluído
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NCT00150072 · Efficacy and Safety of Imatinib in ChordomaConcluído
PHASE2🇮🇹 Itália · 🇨🇭 Suíça
NCT00410670 · Chordoma Family StudyConcluído
🇺🇸 Estados Unidos
NCT00154388 · Phase II Study of Imatinib Mesylate in Patients With Life Th…Concluído
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NCT06140732 · Apatinib Combined With Camrelizumab in Treating Participants…UNKNOWN
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Publicações mais relevantes

🥇Melhor nível de evidência: Revisão sistemática
Timeline de publicações
2.178 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.178

#1

Transdural Cisternotomy in the Extended Middle Fossa Approach.

Neurology India2026 Mar 01

Dolenc's pretemporal transcavernous approach and Kawase's s anterior transpetrosal approach are the two primary extradural middle cranial fossa approaches (EMFAs) to the central skullbase. The extended extradural phase of the surgery may potentially result in temporal lobe edema, compromising the surgical exposure and sometimes a postoperative temporal lobe venous infarction. The authors describe an alternative technique of cerebrospinal fluid (CSF) drainage called "transdural cisternotomy" in EMFA. In this, CSF is released from the chiasmatic cistern during the extradural stage of surgery. Two illustrative cases are shown, a case of petroclival meningioma and a petroclival intradural chordoma. Both patients underwent gross total tumor resection with good long-term outcome. Transdural cisternotomy was greatly beneficial in both the cases. Based on our experience with several such cases, the transdural cisternotomy described here is an easy, reproducible, and effective method of brain relaxation in EMFAs.

#2

Surgical management of a large sacrococcygeal chordoma complicated by rectal perforation: A case report.

Surgical neurology international2026

Sacral chordomas are rare malignant bone tumors that are locally aggressive and difficult to treat due to proximity to pelvic viscera, neurovascular structures, and the high risk of surgical morbidity. En bloc resection with negative margins remains the gold standard, but it is often not feasible in large or adherent tumors. Rectal perforation is a rare yet potentially catastrophic intraoperative complication that remains sparsely reported. We report the case of a 70-year-old man presenting with progressive back and gluteal pain, urinary difficulty, and bowel dysfunction. Magnetic resonance imaging revealed a giant sacrococcygeal chordoma (16.2 × 12.2 × 11.7 cm) compressing the rectum and sacral canal. Pre-operative arterial embolization of the bilateral internal iliac, median sacral, and feeding arteries was performed. During intralesional resection through a posterior approach, a rectal microperforation was detected, prompting intraoperative consultation with the general surgery team. The defect was repaired, and a trephine sigmoid colostomy was created. Tumor debulking was completed with an estimated blood loss of 300 mL. Histopathology confirmed chordoma. The patient recovered well, with a functional stoma and satisfactory wound healing. Managing giant sacrococcygeal chordomas utilizing the "gold standard," en bloc resection, may risk rectal perforation due to visceral adherence. Prompt intraoperative recognition and management of this adverse event are critical, along with a multidisciplinary approach to maximize patient safety.

#3

CHI3L1 Expression in Chordoma: Implications for Immunotherapeutic Intervention.

Cells2026 Feb 22

Chordomas are rare, highly morbid tumors arising from notochordal progenitor cells along the spinal axis, associated with severe neurological complications and high recurrence rates. Their resistance to conventional therapies and limited options beyond surgical resection and high-dose radiation underscore the urgent need for novel therapeutic targets. Publicly available preliminary RNA sequencing data from the Chordoma Foundation identified chitinase-3-like 1 (CHI3L1), a secreted glycoprotein implicated in immune checkpoint regulation and epithelial-mesenchymal transition (EMT), as a promising candidate for chordoma immunotherapy. Yet, the comprehensive function of CHI3L1 in chordoma immune response remains unclear. To evaluate its presence in chordoma, we employed RNA-based analyses alongside enzyme-linked immunosorbent assays (ELISA) on commercially available chordoma cell lines (JHC7, U-CH12, U-CH1, U-CH1-N) and human chordoma tumor specimens. Our results demonstrate elevated CHI3L1 expression in chordoma cells relative to notochordal precursors, with comparative analyses revealing higher CHI3L1 expression in the primary tumor relative to recurrent samples. These findings suggest the potential role of CHI3L1 in chordoma tumorigenesis, emphasizing its relevance as a biomarker and therapeutic target for primary tumors. Future studies are necessary to elucidate the mechanistic role of CHI3L1 in chordoma immune evasion and to explore targeted interventions that may improve patient outcomes in this aggressive cancer.

#4

CircRNAs in Immuno-Metabolic Reprogramming of Chordoma Cancer: Molecular Crosstalk and Therapeutic Potential.

International journal of molecular sciences2026 Jan 19

Slow-growing and locally invasive, chordoma is a rare malignant bone tumor, with a reported annual worldwide incidence of 0.08 per 100,000 cases. It accounts for about 3 percent of all bone tumors and about 20 percent of primary spinal tumors. The incidence rates vary between countries and races, with white/Caucasian males in the 5th or 6th decade of life having a higher prevalence. Chordoma poses significant challenges because of its high recurrence rate and resistance to several standard treatment techniques. All cancers, including chordomas, have altered energy metabolism processes that contribute to their unchecked growth and survival. The significance of non-coding RNAs, particularly circular RNAs (circRNAs), as key regulators at the intersection of cellular metabolism and immune function has been highlighted by recent discoveries. By focusing on important glycolytic enzymes in tumor cells and altering metabolic reprogramming pathways, CircRNAs can influence cancer metabolic adaptability. Furthermore, via influencing immune cell functions as immunological checkpoint signaling and macrophage polarization, circRNAs influence immune evasion in the tumor microenvironment. These frequently happen via regulating important pathway signals, like PI3K/AKT/mTOR and NRF2, or by processes like miRNA sponging, creating a tumor microenvironment that is immunosuppressive and metabolically friendly. The translational pathway of circRNA-targeted therapeutics is promoted as a developing pharmacological entity in this review, which also highlights recent information on the control of circRNA-mediated immunometabolism in chordoma and examines numerous important molecular axes. There are promising opportunities to develop novel precision treatments for chordoma by considering circRNAs as dual regulators of immunological and metabolic networks.

#5

Bone modifying agents and multikinase inhibitors as treatments for chordoma: A TriNetX-based retrospective cohort study.

Clinical neurology and neurosurgery2026 Feb

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord, most commonly affecting the axial skeleton. Although advances have been made in surgical resection and radiation therapy, systemic treatment options remain limited. Bone-modifying agents (BMAs), including zoledronic acid and denosumab, as well as multikinase inhibitors (MKIs) like lenvatinib and cabozantinib, have emerged as potential targeted therapies based on preclinical models. However, comparative real-world data evaluating their outcomes in chordoma patients is lacking. A retrospective cohort study was conducted using the TriNetX Research Network. Patients with chordoma (ICD-10-CM C41.0, C41.2, C41.4) were stratified into treatment groups based on receipt of zoledronic acid, denosumab, or multikinase inhibitors (MKIs). Propensity score matching was used to adjust for baseline confounders. Outcomes evaluated at 5 years post-diagnosis included all-cause mortality, pathologic fracture, spinal cord compression, and osteonecrosis. Risk ratios with 95 % confidence intervals were calculated. Compared to denosumab, zoledronic acid was associated with a higher 5-year mortality risk, but a lower osteonecrosis risk. Comparisons involving MKIs showed no difference in mortality. No pathologic fractures were reported across cohorts. Spinal cord compression was not different among treatments. This study highlights potential differences in survival and skeletal-related outcomes among chordoma patients treated with BMAs, specifically denosumab and MKIs. These preliminary findings underscore the need for prospective studies to better define optimal systemic therapies for this rare malignancy.

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Cordoma e no aconselhamento genético da família.

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

O cordoma é um tumor cancerígeno raro que se desenvolve na base do crânio ou na coluna vertebral a partir de resquícios embrionários da notocorda. Cerca de metade de todos os casos ocorre na base da coluna, no osso sacro, e cerca de um terço acomete a base do crânio.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:178
    Orphanet
  2. GARD:1303
    GARD (NIH)
  3. Q1076389
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Cordoma. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/cordoma

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Cordoma
Compêndio · Raras BR

Cordoma

ORPHA:178 · MONDO:0008978
Prevalência
<1 / 1 000 000
Herança
Autosomal dominant, Not applicable
CID-10
C76.7 · Neoplasia maligna de outras localizações mal definidas
CID-11
Ensaios
23 ativos
Medicamentos
10 registrados
Início
Adult
Prevalência
0.06 (United States)
MedGen
UMLS
C0008487
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Rev. sistemática

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Rara