# Condrossarcoma mixoide extraesquelético > Página oficial: https://raras.org/doenca/condrossarcoma-mixoide-extraesqueletico > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 209916 — https://www.orpha.net/en/disease/detail/209916 - **CID-10**: C49.9 - **OMIM**: OMIM:612237 — https://omim.org/entry/612237 ## Descrição clínica Neoplasia maligna rara de tecidos moles, de diferenciação incerta, caracterizada pela presença de células semelhantes a condroblastos em um estroma mixóide e um padrão de crescimento multinodular. Os locais mais comuns de envolvimento são os tecidos moles profundos das extremidades, particularmente a coxa. Geralmente se apresenta como uma massa crescente de tecidos moles. Os pacientes podem ter sobrevida longa, mas recorrências locais e metástases ocorrem em aproximadamente metade dos casos. O local mais comum de metástase são os pulmões. ## Epidemiologia e herança - **Prevalência**: 1-9 / 1 000 000 - **Padrão de herança**: Not applicable ## Sinais e sintomas (2 fenótipos HPO) - **Condrossarcoma** — HPO: HP:0006765 - **HP:0001442** — HPO: HP:0001442 ## Genes associados (5) - **EWSR1** — RNA-binding protein EWS [Part of a fusion gene in] - Função: Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in - **NR4A3** — Nuclear receptor subfamily 4 group A member 3 [Part of a fusion gene in] - Função: Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 re - **TCF12** — Transcription factor 12 [Part of a fusion gene in] - Função: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional net - **TAF15** — Transcription initiation factor TFIID subunit 12 [Part of a fusion gene in] - Função: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or - **TFG** — Protein TFG [Part of a fusion gene in] - Função: Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplas ## Medicamentos em desenvolvimento (3) - DOXORUBICIN HYDROCHLORIDE — Fase Phase 3 (DNA topoisomerase II alpha inhibitor) - DOXORUBICIN — Fase Phase 3 (DNA topoisomerase II alpha inhibitor) - PAZOPANIB — Fase Phase 2 (Vascular endothelial growth factor receptor inhibitor) - Fonte: https://platform.opentargets.org/disease/MONDO_0012825 ## Ensaios clínicos ativos (3) - **NCT02180867** [ACTIVE_NOT_RECRUITING]: Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery — https://clinicaltrials.gov/study/NCT02180867 - **NCT05836571** [ACTIVE_NOT_RECRUITING]: Testing Ipilimumab and Nivolumab Combination With or Without Cabozantinib in People >= 18 Years Old With Advanced Soft Tissue Sarcoma — https://clinicaltrials.gov/study/NCT05836571 - **NCT06526897** [NOT_YET_RECRUITING]: Evaluation of Chest CT Versus Chest X-Ray for Lung Surveillance After Curative-Intent Resection of High-Risk Truncal-Extremity Soft Tissue Sarcoma — https://clinicaltrials.gov/study/NCT06526897 - **NCT03600649** [UNKNOWN]: Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas — https://clinicaltrials.gov/study/NCT03600649 - **NCT05266196** [UNKNOWN]: A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577) — https://clinicaltrials.gov/study/NCT05266196 - **NCT02066285** [COMPLETED]: Trial of Pazopanib in Patients With Solitary Fibrous Tumor and Extraskeletal Myxoid Chondrosarcoma — https://clinicaltrials.gov/study/NCT02066285 - **NCT00346164** [COMPLETED]: Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma — https://clinicaltrials.gov/study/NCT00346164 - **NCT01532687** [COMPLETED]: Gemcitabine With or Without Pazopanib in Treating Patients With Refractory Soft Tissue Sarcoma — https://clinicaltrials.gov/study/NCT01532687 - **NCT00423618** [COMPLETED]: Randomised Trial of Volume of Post-operative Radiotherapy Given to Adult Patients With eXtremity Soft Tissue Sarcoma — https://clinicaltrials.gov/study/NCT00423618 - **NCT00589121** [COMPLETED]: Image-Guided Radiation Therapy in Treating Patients With Primary Soft Tissue Sarcoma of the Shoulder, Arm, Hip, or Leg — https://clinicaltrials.gov/study/NCT00589121 ## Doenças relacionadas (por similaridade fenotípica) - [Condrossarcoma](https://raras.org/doenca/condrossarcoma) — ORPHA:55880 — 2 sintomas em comum - [Osteocondromas múltiplos](https://raras.org/doenca/osteocondromas-multiplos) — ORPHA:321 — 1 sintomas em comum - [Meduloblastoma](https://raras.org/doenca/meduloblastoma) — ORPHA:616 — 1 sintomas em comum - [Síndrome de Maffucci](https://raras.org/doenca/sindrome-de-maffucci) — ORPHA:163634 — 1 sintomas em comum - [Mielofibrose com metaplasia mieloide](https://raras.org/doenca/824) — ORPHA:824 — 1 sintomas em comum - [Síndromes mielodisplásicos](https://raras.org/doenca/sindromes-mielodisplasicos) — ORPHA:52688 — 1 sintomas em comum - [Doença Ollier](https://raras.org/doenca/doenca-ollier) — ORPHA:296 — 1 sintomas em comum - [Sarcoma de Ewing](https://raras.org/doenca/sarcoma-de-ewing) — ORPHA:319 — 1 sintomas em comum - [Síndrome Proteus](https://raras.org/doenca/sindrome-proteus) — ORPHA:744 — 1 sintomas em comum - [Síndrome mielodisplásica associada a anomalia cromossômica 5q isolada](https://raras.org/doenca/sindrome-mielodisplasica-associada-a-anomalia-cromossomica-5q-isolada) — ORPHA:86841 — 1 sintomas em comum ## Importante O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa. Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas. --- **Citação sugerida**: Raras.org — Condrossarcoma mixoide extraesquelético. Disponível em: https://raras.org/doenca/condrossarcoma-mixoide-extraesqueletico **Formato HTML**: https://raras.org/doenca/condrossarcoma-mixoide-extraesqueletico **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=209916