É um tipo raro e agressivo de câncer que se forma nos músculos. Geralmente afeta crianças e jovens adultos. Apenas uma pequena porcentagem desses tumores surge nos músculos dos braços e pernas. A maioria se desenvolve em outras partes do corpo.
Introdução
O que você precisa saber de cara
É um tipo raro e agressivo de câncer que se forma nos músculos. Geralmente afeta crianças e jovens adultos. Apenas uma pequena porcentagem desses tumores surge nos músculos dos braços e pernas. A maioria se desenvolve em outras partes do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.
Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:15890677, PubMed:18356527, PubMed:19221179, PubMed:20543840, PubMed:21245099). Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3' (PubMed:10358076). Activity suppressed by insu
CytoplasmNucleus
Rhabdomyosarcoma 2
A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration
Nucleus
Rhabdomyosarcoma 2
A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them
CytoplasmCytoplasm, perinuclear region
Pleuropulmonary blastoma
A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor.
May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney (PubMed:9744804). Plays a role in the regulation of lipid metabolism (By similarity)
Apical cell membrane
Lung cancer
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087)
Nucleus
Waardenburg syndrome 1
WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity
NucleusNucleus, nucleolusCell membrane
Neurofibromatosis 1
A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
9,204 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
52 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Rabdomiossarcoma
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
18 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
374 ensaios clínicos encontrados, 36 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 4.835
Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors.
Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens. We analyze whether breaks (>30 days) between events and subsequent therapies affect survival and the associated decision-making rationales. We reviewed data for patients with R/R extracranial solid tumors treated at Texas Children's Hospital between 2005 and 2023. Descriptive analysis was performed along with univariate chi-square and independent sample t-tests. Cox regression analysis was used to evaluate postevent survival (PES). Of the 466 patients (female: 47%; median age: 8.7 years), most common diagnoses were neuroblastoma (21.5%), rhabdomyosarcoma (19.1%), and osteosarcoma (16.1%). Patients had a median of 3 (interquartile range [IQR]: 1-4) R/R events with a median of 93 (IQR: 52-200) days between events. Of 438 patients who received ≥1 postevent therapy regimen, 116 (26.5%) experienced ≥1 break. Reasons for breaks varied evenly between intentional/goal-concordant and undesired delays. Median PES for all patients was 12.9 (IQR: 5.8-31.4) months. In a multivariable Cox regression model, taking a >30-day break in disease-directed therapy was associated with prolonged PES (hazard ratio 0.58 [95% CI 0.45-0.76], p < 0.001). Most children with R/R solid tumors experience multiple events and therapy regimens without a break. Presence of a >30-day break did not negatively affect survival, implying that time between therapy regimens can safely be offered to select patients to promote quality of life and thoughtful decision-making, without compromising survival.
Gene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.
Studies of the pediatric soft tissue cancer alveolar rhabdomyosarcoma have contributed to the current understanding of the diverse set of molecular changes that occur as part of the gene amplification process. In accord with the traditional view of amplification, the amplicon from the 2p24 chromosomal region primarily involves a single protein-coding gene (MYCN). In contrast, amplification of the 12q13-q14 chromosomal region involves a gene-rich region in which there are at least two critical protein-coding oncogenic targets (CDK4 and SHMT2). Amplicons involving the 1p36 and 13q14 chromosomal regions co-occur as part of a multistep process in which a mutation, in this case a translocation that forms a gene fusion (PAX7::FOXO1), is followed by amplification. Analysis of the amplicon involving the 13q31 region highlights an example of a situation in which the critical amplification target is a gene for a non-coding RNA (MIR17HG) instead of a protein-coding gene. Translational studies of the prognostic significance of these amplicons emphasize important considerations encountered in defining useful prognostic markers. Finally, preclinical investigations revealed that some amplification events (CDK4 and SHMT2) decrease susceptibility to drugs that directly target the amplified gene products and increase susceptibility to drugs targeting proteins that function in signaling pathways downstream of these amplified gene products. These combined studies in alveolar rhabdomyosarcoma emphasize the biological and clinical complexities of gene amplification in cancer.
Local Control of Bladder/Prostate Rhabdomyosarcoma: An Expert Consensus Guideline From the International Soft Tissue Sarcoma Consortium (INSTRuCT).
The local treatment of bladder and prostate rhabdomyosarcoma is a multidisciplinary decision, incorporating elements of patient age, tumor size and location, nodal involvement, and access to local expertise and technology. The relative absence of long-term bladder and bowel function outcome data complicates discussions, particularly given improved survival rates and development of new surgical and radiotherapy techniques. These INSTRuCT guidelines, a collaboration of the Children's Oncology Group, Soft Tissue Sarcoma Committee, European Pediatric Soft Tissue Sarcoma Study Group, and the Cooperative Weichteilsarkom Studiengruppe, reflect international expert consensus and are intended to inform practice, generate discussion, and highlight areas of future inquiry.
First-in-Class Small Molecule Inhibitor of Oncogene AVIL in Glioblastoma.
Glioblastoma multiforme (GBM) is the most prevalent and aggressive malignant primary brain tumor, marked by rapid growth, extensive invasiveness, and a median survival of only ∼15 months despite current multimodal therapy. To identify new therapeutic vulnerabilities, we investigated the actin-regulatory protein AVIL, previously implicated through a MARS-AVIL gene fusion in rhabdomyosarcoma. Comprehensive genomic and transcriptomic analyses across REMBRANDT, TCGA, and CGGA datasets revealed recurrent AVIL amplification and consistently elevated AVIL expression in GBM compared with normal brain tissue. AVIL was overexpressed across all GBM molecular subtypes and glioma stem cell (GSC) states but was nearly undetectable in normal astrocytes, neural stem cells, and brain tissues. Functional studies demonstrated that AVIL is both necessary and sufficient for glioma genesis: AVIL silencing eradicated GBM cells in vitro and suppressed xenograft growth in vivo, while AVIL overexpression enhanced proliferation, migration, and transformation. Mechanistically, AVIL drives tumor progression through actin cytoskeleton remodeling and activation of the FOXM1-LIN28B oncogenic pathway. Using a small molecule microarray screen, we identified a selective AVIL-binding compound (compound A) that potently inhibited GBM cell growth with minimal toxicity to normal astrocytes. Gene expression changes induced by compound A mirrored those following AVIL knockdown, indicating on-target activity. Compound A demonstrated robust antitumor efficacy in multiple preclinical GBM models, including orthotopic xenografts, GSC-derived tumors, patient-derived xenografts, and temozolomide-resistant GBM with favorable pharmacokinetics and blood-brain barrier penetration. The minimal AVIL expression in normal tissues and lack of phenotype in AVIL-deficient mice underscore its potential as a low-toxicity therapeutic target. Together, these findings establish AVIL as a critical oncogenic driver in GBM and introduce a first-in-class AVIL inhibitor with strong translational promise for precision neuro-oncology.
Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.
Recent advances in molecular pathology have transformed the diagnostic landscape and management of human cancer. Increasingly, integration of genomic and epigenomic data with conventional histopathology has improved tumor classification, refined prognostic assessment, and revealed previously unsuspected therapeutic targets. High-throughput techniques such as next-generation sequencing, gene fusion panels, and methylation arrays have expanded applicability to formalin-fixed tissue and enabled simultaneous evaluation of multiple cancer-defining alterations/genetic drivers. In optic nerve gliomas, MAPK pathway activation through BRAF or FGFR1 alterations, or NF1 inactivation, is a basic biological feature with diagnostic implications, while MEK inhibitors may be of clinical benefit in selected patients. Optic nerve sheath/orbital meningiomas demonstrate divergent molecular landscapes depending on location, with NF2-driven and non-NF2-driven pathways informing recurrence risk and behavior. In the orbit, characteristic genetic drivers facilitate diagnosis of mesenchymal tumors such as solitary fibrous tumor (NAB2::STAT6) and alveolar rhabdomyosarcoma (PAX3/7::FOXO1), while molecular profiling assists in distinguishing challenging peripheral nerve and melanocytic lesions. Similarly, lacrimal gland neoplasms parallel salivary gland counterparts, with recurrent fusions such as PLAG1, HMGA2, and MYB::NFIB of great diagnostic utility. These advances underscore the growing role of molecular diagnostics in improving accuracy, guiding prognostication, and refining the classification of rare ocular tumors. As high-throughput techniques continue to mature, integration with evolving spatial and single-cell-based approaches promises to expand our understanding and further personalize diagnostic and therapeutic strategies.
Publicações recentes
Giant Adenomatoid Tumor of the Tunica Albuginea Presenting as Chronic Scrotal Swelling in an Elderly Male: A Report of a Rare Case.
myoActivation® for Chronic Pain Care That Changes the Biotensegral Properties of the Human Body: A Motion Laboratory Case Report.
🥇 Ensaio randomizadoA global clinicopathologic and molecular portrait of spindle cell/sclerosing rhabdomyosarcoma with emphasis on retroperitoneal cases.
📖 RevisãoSclerosing Rhabdomyosarcoma Arising in Desmoid Fibromatosis 17 Years After Therapeutic Radiation.
Primary Prostatic Alveolar Rhabdomyosarcoma in Adult, a Diagnostic Pitfall: Report of an Extremely Rare Tumor.
📚 EuropePMC7.713 artigos no totalmostrando 197
Perianal Rhabdomyosarcoma Mimicking Perianal Abscess: Case Report and Literature Review.
Case reports in oncologyMultimodality Imaging Findings of Primary Embryonal Rhabdomyosarcoma in the Prostate: A Rare Case Report.
Journal of clinical ultrasound : JCUFrontotemporal-orbitozygomatic approach for pediatric cranio-orbital tumors: a single-center experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySuperficial Rhabdomyosarcomas: A Review of Subtypes, Diagnostic Features, and Differential Diagnoses.
International journal of surgical pathologyGlobal MyoG research 2004-2024: a bibliometric analysis of trends and translational implications.
Experimental biology and medicine (Maywood, N.J.)Cervical embryonal rhabdomyosarcoma beyond childhood: A case report and literature review.
Radiology case reportsLaparoscopic Resection of Vaginal Embryonal Rhabdomyosarcoma in a 16-Month-Old Girl: An Organ-Preserving Surgical Approach.
Journal of pediatric and adolescent gynecologyPerioperative Management of Microsurgical Correction of Facial Deformity Following Radiotherapy.
The Journal of craniofacial surgeryAdult embryonal rhabdomyosarcoma (botryoid subtype) of the ureter: A case report.
Urology case reportsComprehensive multi-platform tyrosine kinase profiling reveals novel actionable FGFR aberrations across sarcomas affecting the young.
Molecular cancer therapeuticsA rare presentation of uterine cavity embryonal rhabdomyosarcoma in a preschool girl: a case report.
International journal of surgery case reportsClinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors.
Pediatric blood & cancerGene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.
International journal of molecular sciencesThe Extracellular Matrix Regulates Invasion in Fusion-Negative Rhabdomyosarcoma via YAP-PIEZO1 Signaling Axis.
CancersWhole Abdominal Radiotherapy in Bone and Soft Tissue Sarcomas: Indications, Techniques, Clinical Outcomes, and Future Directions.
Current treatment options in oncologyLocal Control of Bladder/Prostate Rhabdomyosarcoma: An Expert Consensus Guideline From the International Soft Tissue Sarcoma Consortium (INSTRuCT).
Pediatric blood & cancerDICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.
Case reports in obstetrics and gynecologyPleomorphic rhabdomyosarcoma, outcomes of patients with advanced disease treated with systemic agents: Retrospective study from the global pushing ultra-rare sarcomas towards hope (PUSH) consortium.
European journal of cancer (Oxford, England : 1990)Clinicopathological and molecular features of breast metastases in alveolar rhabdomyosarcoma: A series of 3 cases.
Annals of diagnostic pathologyIfosfamide-Induced Encephalopathy in a Very Young Child With Rhabdomyosarcoma: Case Report and Literature Review.
Journal of pediatric hematology/oncology[Urethral prolapse: an unknown diagnosis in pediatrics].
Revue medicale de LiegeFirst-in-Class Small Molecule Inhibitor of Oncogene AVIL in Glioblastoma.
DNA and cell biologyEmbryonal Rhabdomyosarcoma of the Diaphragm in a Two-Year-Old Boy.
CureusDICER1-Related Primitive Polyphenotypic Neoplasm: A Report of 15 Cases of an Underrecognized Tumor of the Gynecologic Tract and Peritoneum.
The American journal of surgical pathologyUnusual metastatic patterns of urologic malignancies: a case series and literature review.
The Canadian journal of urologyOrbital rhabdomyosarcoma in an adult: a misleading presentation.
Radiology case reportsSuccessful Surgical Treatment of Pediatric FUS::TFCP2-Positive Rhabdomyosarcoma of the Mandible: A Case Report.
International journal of surgical pathologyFOXM1 inhibitor, RCM‑1, enhances venetoclax mediated apoptosis through downregulation of ATP2B4 in rhabdomyosarcoma.
International journal of oncologyPractical guideline for rhabdomyosarcoma in children and adolescents.
Innovation (Cambridge (Mass.))Do skeletal muscle bulk and density affect survival outcome in pediatric patients with rhabdomyosarcoma?
La Radiologia medicaHeterologous Rhabdomyoblastic Differentiation in Dedifferentiated Liposarcoma Is Significantly Associated With Loss of H3K27 Trimethylation.
Pathology internationalCase report: Primary pulmonary rhabdomyosarcoma exhibiting epithelial morphology and unusual immunophenotype - A significant diagnostic pitfall.
Respiratory medicine case reportsSymptom triad of primary cervical rhabdomyosarcomas as seen in a Nigerian tertiary hospital: A case series.
Gynecologic oncology reportsCutaneous Epithelioid/Pleomorphic Rhabdomyosarcoma, Melanoma in Disguise? An Immunohistochemical, Molecular and Epigenetic Study of 13 Patients.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncSuboptimal outcomes of group III paediatric genitourinary rhabdomyosarcoma-experience from treatment with a multimodal protocol in low- and middle-income setting.
EcancermedicalscienceEndoscopic Transoral Approach for Resection of Skull Base Rhabdomyosarcoma.
The Journal of craniofacial surgeryA Rapidly Growing Cervical Tumor in an Infant: Sarcoma with BCOR Gene Alterations.
International journal of surgical pathologyCAR-T cell therapy for pediatric solid tumors: armored CAR-T cells and beyond.
Cancer metastasis reviewsBeyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.
Translational vision science & technologyOrbital Rhabdomyosarcoma in a Young Adult With Prior Childhood Leukaemia: A Case Report.
CureusFrom bench to bedside: combining HDAC inhibitors with standard therapies in rhabdomyosarcoma treatment.
Frontiers in cell and developmental biologyBiopsy-Only Versus Debulking Surgical Approaches for Pediatric Orbital Rhabdomyosarcoma: Impact on Eye Preservation and Oncologic Outcomes.
American journal of ophthalmologyBilateral proptosis as the first manifestation in a patient with acute myeloid leukemia: Case report.
MedicineSingle-cell protein activity analysis reveals aberrant myogenesis and IGF2-PI3K pathway dependencies in MYOD1-mutant rhabdomyosarcoma.
Science advancesComparative modes of chromatin engagement by PAX::FOXO1 fusions in rhabdomyosarcoma.
bioRxiv : the preprint server for biologySHFL Post-Transcriptionally Restricts Coxsackievirus A16 In Vitro and In Vivo.
VirusesThe Development of Novel Treatment Strategies for Rhabdomyosarcoma.
CancersA diagnostic dilemma in pediatric proptosis-from suspected malignancy to benign orbital cavernous venous malformation: a case report.
Journal of medical case reportsPrimary Adrenal BCOR::CCNB3 Sarcoma: Fine Needle Aspiration Cytology Findings.
Diagnostic cytopathologyDiagnostic value of ultrasound parameters combined with clinical features in children with alveolar and non- alveolar rhabdomyosarcoma.
Medical ultrasonographyClinicopathological characteristics and outcomes of 42 cases of ocular adnexal sarcoma.
International ophthalmologyComprehensive genomic profiling refines diagnosis and reveals clinically relevant alterations in pediatric Soft tissue sarcomas.
European journal of medical researchA Rare Presentation of a Large Pleomorphic Rhabdomyosarcoma of the Inferior Vena Cava (IVC): A Case Report.
CureusCraniofacial Hypoplasia and the Difficult Airway.
Orthopedic reviewsCommentary: Undifferentiated pleomorphic sarcoma of the adrenal gland: a case report and literature review.
Frontiers in oncologyChildren and Young People With First Relapse or Progression of Upfront Metastatic Rhabdomyosarcoma: An Analysis of Clinical Features and Outcomes From the INternational Soft Tissue saRcoma ConsorTium (INSTRuCT).
Cancer medicineThe tumour microenvironment in paediatric rhabdomyosarcomas: a systematic review.
CarcinogenesisMetastatic Primary Intratesticular Rhabdomyosarcoma in an Adolescent with Rapid Early Response to VAC Chemotherapy: A Case Report and Literature Review of 99 Cases.
Research and reports in urologyPelvic Location Predicts Worse Outcomes in Alveolar Rhabdomyosarcoma: Underuse of Radiotherapy and Missed Survival Benefit.
Journal of surgical oncologyCAR-T cell immunotherapy in rhabdomyosarcoma.
Journal of translational medicineGonystylones A-E, Antiproliferative 5,6-Dihydro-α-pyrones from the Plant Gonystylus borneensis.
Journal of natural productsOrbital Rhabdomyosarcoma: A Comprehensive Review of Clinical Features, Molecular Advances and Current Management.
Clinical & experimental ophthalmologyCorrigendum to "EPICYCLE: A confirmatory preclinical study of the anti-rhabdomyosarcoma efficacy of BET bromodomain and cyclin-dependent kinase 9 inhibitors" [Biomed. Pharmacother. 192 (2025), 118704].
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieIntratumor heterogeneity and clonal evolution in sarcomas: Molecular, cellular, and functional drivers of therapy resistance.
Seminars in cancer biologyComparable Diagnostic Performance of 68Ga-FAPI and 18F-FDG PET/CT in Perineal Rhabdomyosarcoma.
Clinical nuclear medicineSpanish Paediatric Haematology and Oncology Survival Results and Trends, 1999-2022.
CancersEarly recurrence and prognosis in patients undergoing resection of primary retroperitoneal sarcoma: an international, retrospective cohort study.
EClinicalMedicineThe Reliability of Measuring Muscle Cross-Sectional Area in Children Undergoing Treatment for Musculoskeletal Sarcoma.
Journal of cachexia, sarcopenia and muscleCombined Inhibition of HRAS and MEK Induces Tumor Regression and Restores Myogenic Differentiation in HRAS-Mutant Rhabdomyosarcoma.
Cancer researchNumber of affected lymph nodes predicts outcome in extremity rhabdomyosarcoma.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyStage at Diagnosis and International Survival Variation in Childhood Tumors in the BENCHISTA Study.
JAMA network openTumefaction of the Parotid Region in a 10-Month-Old Infant Revealing a Synovial Sarcoma: A Diagnostic Challenge, Case Report, and Review of the Literature.
CureusIndocyanine green assists with sentinel lymph node mapping in pediatric and adolescent patients: A Pediatric Surgical Oncology Research Collaborative prospective observational study.
CancerEP300::VGLL3 fused rhabdomyoblastic tumor revisited: Is the label "rhabdomyosarcoma" justified?
Virchows Archiv : an international journal of pathologyEpithelioid and spindle cell rhabdomyosarcoma of the rib with FUS-TFCP2 fusion: A case report and literature review.
Oncology lettersRare primary pleomorphic rhabdomyosarcoma of the thyroid gland with lung and adrenal metastases: a case report and literature review.
Frontiers in oncologyPrimary peritoneal embryonal rhabdomyosarcoma in a 6-year-old girl with rapid post-surgical peritoneal recurrence possibly due to surgical tumor seeding: a case report and review of the literature.
Journal of medical case reportsPediatric inflammatory myofibroblastic tumor of the urinary bladder: a rare case report and treatment approach.
The Turkish journal of pediatricsSomatic Tumor-Like Neoplasms Arising With Testicular Germ Cell Tumors: Distilling Evolving Understanding, Terminology, and Implications for the Practicing Surgical Pathologist.
Advances in anatomic pathologyA Rare Pediatric Paratesticular Spindle Cell Rhabdomyosarcoma and Systematic Literature Review.
Journal of investigative medicine high impact case reportsCytological, Immunocytochemical and Molecular Findings of Extraskeletal Round Cell Sarcomas in Paediatric Patients.
Acta cytologicaGarcinol, a natural benzophenone overcomes radio and chemoresistance by targeting PI3K-PKB/AKT pathway in rhabdomyosarcoma cells.
Journal of biomolecular structure & dynamicsPrimary Embryonal Rhabdomyosarcoma of the Breast: A Case Report and Literature Review.
Case reports in oncologyAdult liver rhabdomyosarcoma complicated with sarcomatoid carcinoma: A case report.
World journal of gastrointestinal oncologyMRI Diffusion Imaging as an Additional Biomarker for Monitoring Chemotherapy Efficacy in Tumors.
Medicina (Kaunas, Lithuania)A scientometric and comparative study of rhabdomyosarcoma research by pediatricians and stomatologists.
Journal of dental sciencesThe role of minimally invasive surgery for diagnosis and staging in paediatric surgical oncology.
EcancermedicalscienceCase of primary digital embryonal rhabdomyosarcoma in a cat.
The Canadian veterinary journal = La revue veterinaire canadienneClinical management and therapeutic development for the rare disease rhabdomyosarcoma.
Journal of CancerOral rehabilitation using three-dimensional-guided autotransplantation following pediatric rhabdomyosarcoma and secondary non-Hodgkin lymphoma with severe dental late effects: a case report.
Journal of medical case reportsOsimertinib inhibits the MYLK4-mediated phosphorylation of CDKAL1 to suppress stemness and chemoresistance in rhabdomyosarcoma.
Signal transduction and targeted therapyInternational multicenter retrospective study on pleomorphic rhabdomyosarcoma (P-RMS), a PUSH platform study: outcome of primary localized disease.
ESMO openAlveolar rhabdomyosarcoma with multiple bone marrow metastases: a case report.
BJR case reportsMultimodal conservative local treatment based on combined brachytherapy and external beam radiation therapy for paediatric pelvic and perineal rhabdomyosarcoma.
Clinical and translational radiation oncologyProgressive Metastatic Cutaneous TFCP2::FUS Fusion-Positive Rhabdomyosarcoma: A Case Report.
Case reports in oncologyProteomic Profiling Reveals Candidate Proteins and Pathways Associated with Chemo-Radio-Sensitivity and Relapse in Rhabdomyosarcoma.
Journal of proteome researchSticky neutrophils, risky tumors: NETs in DICER1-associated rhabdomyosarcoma.
Developmental cellPathway for the Development of ATR Inhibitors in Pediatric Malignancies: An ACCELERATE Multistakeholder Analysis.
JCO precision oncologyTreatment and Outcomes of Children and Adults With Rhabdomyosarcoma in Rwanda.
Pediatric blood & cancerPrimary intracranial rhabdomyosarcoma: A systematic review of existing literature from 2000 to 2024.
Pakistan journal of medical sciencesIdentification of CADM1 as an Immunotherapeutic Target and Evaluation of a Novel CADM1-Targeting Antibody-Drug Conjugate in Preclinical Osteosarcoma Models.
Molecular cancer therapeuticsSprouty in Tumors of the Nervous System.
International journal of molecular sciencesMachine learning screening for disulfidptosis genes-associated immunosuppression status in osteosarcoma and rhabdomyosarcoma.
Translational cancer researchRenal sarcomas in children and adolescents: a retrospective, multicenter cohort study.
EClinicalMedicineThe investigational anti-B7-H3 antibody-drug conjugate vobramitamab duocarmazine exerts anti-tumor activity in vitro and in vivo in pediatric sarcoma preclinical models.
Cell death & diseaseCyclophosphamide and Topotecan in Relapsed and Refractory Pediatric Extracranial Solid Tumors: A Retrospective Analysis.
Indian pediatricsA comparison of upper versus lower extremity rhabdomyosarcoma survival: A SEER database analysis.
Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation OncologyClinico-Pathological and Clinical Outcomes of Soft Tissue Sarcoma With FUS-TFCP2 or EWSR1-TFCP2 Fusions: A Case Series From North India.
CureusPredictors of survival in alveolar rhabdomyosarcoma in the US.
Annals of medicine and surgery (2012)Adult urologic sarcomas: a single institution experience over 25 years.
The Canadian journal of urologyIntratumoral and peritumoral radiomics for the pretreatment prediction of response to neoadjuvant chemotherapy in rhabdomyosarcoma: a multicenter retrospective cohort study.
Insights into imaging[Malignant embryonal rhabdomyosarcoma with heterologous differentiation in gastric stromal tumors: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMelanomas and Mesenchymal Tumors Arising in Giant Congenital Melanocytic Nevi: Clinico-Pathological and Molecular Characterization of a Case Series.
Pigment cell & melanoma researchMulticenter Histology Image Integration and Multiscale Deep Learning Support Machine Learning-Enabled Pediatric Sarcoma Classification.
Cancer researchLipid metabolism abnormalities in pediatric abdominal solid malignant tumors: a comprehensive review.
Frontiers in pediatricsCHK1 inhibition by prexasertib sensitizes cisplatin-resistant malignant tumor cells via checkpoint abrogation and STAT1-driven PD-L1 upregulation.
International immunopharmacologyGenetic characterization of human enterovirus A71 genotypes C4 and B5 Circulating in Qingdao City, Shandong province, China, from 2023 to 2024.
Frontiers in cellular and infection microbiologyPrimary ovarian rhabdomyosarcoma: A diagnostic dilemma in an uncommon tumor.
Journal of cancer research and therapeuticsMIR17HG Expression Is Transcriptionally Regulated by PAX3::FOXO1 and MYCN and is Necessary for Oncogenic Activity in Fusion-Positive Rhabdomyosarcoma.
bioRxiv : the preprint server for biologyRare Presentations of Embryonal Rhabdomyosarcoma in the Middle Ear of a 3-Year-Old Boy and Girl.
Nigerian medical journal : journal of the Nigeria Medical AssociationSecretoglobin 3A1 in activated muscle satellite cells contributes to myosin heavy chain IIX and IIB fiber differentiation.
Cellular and molecular life sciences : CMLS18 F-FDG PET/CT in Rhabdomyosarcoma of the Prostate in an Infant.
Clinical nuclear medicineDiagnostic Delay and Survival in Pediatric Rhabdomyosarcoma: Is Time a Critical Factor?
Journal of pediatric hematology/oncologyClinicopathological observation of adult malignant ectodermal mesenchymoma: A case report and literature review.
MedicineDiagnostic pitfalls: soft-tissue sarcomas initially misdiagnosed as benign vascular anomalies-a case report and systematic review.
Oncology reviewsAlveolar rhabdomyosarcoma of the paranasal sinuses with delayed diagnosis in a resource-constrained clinical setting: a case report.
Oxford medical case reportsPrognostic impact of sarcomatous component in patients with localized and locally advanced uterine carcinosarcoma: a retrospective study in Latin America.
Clinics (Sao Paulo, Brazil)The Impact of Distance and Income on Pediatric Solid Extracranial Tumors: A Report From CYP-C.
Cancer medicineCranial fasciitis of the ethmoid: a rare mimic of pediatric intracranial malignancy.
Pediatric radiologyUpdate on pediatric soft tissue sarcomas.
Current opinion in pediatricsPrimary Uterine Alveolar Rhabdomyosarcoma: A Rare Entity.
International journal of surgical pathologyDisrupting resistance: novel therapeutic approaches to combat multidrug resistance in fusion-negative rhabdomyosarcoma.
Cancer drug resistance (Alhambra, Calif.)GREB1-rearranged uterine tumour shares a common DNA methylation signature with ESR1-rearranged UTROSCT.
Histopathology[Pediatric soft tissue tumors in the 2024 WHO pediatric classification: Challenges and new developments].
Annales de pathologiePractice updates: Emerging entities in bone and soft tissue pathology.
Human pathologyExploring hospital volume thresholds for improved sarcoma treatment across different age categories in the United States.
CancerRobot-assisted Laparoscopic W-shaped Ileocystoplasty in Children.
European urologyIsolation and complete genome sequence analysis of an Echovirus 29 strain isolated from a patient of Acute Flaccid Paralysis in India.
Microbiology resource announcementsTherapeutic targeting of YOD1 disrupts the PAX-FOXO1/N-Myc feedback loop in rhabdomyosarcoma.
JCI insightBenchmarking nazionale della sopravvivenza per stadio alla diagnosi dei tumori infantili in Italia (BENCHISTA-ITA): protocollo di studio.
Epidemiologia e prevenzioneOvarian Sertoli-Leydig cell tumors with heterologous rhabdomyosarcoma: Clinicopathologic features and molecular analysis highlighting recurrent genetic alterations.
HistopathologyCurrent landscape of CAR-therapy for osteosarcoma and rhabdomyosarcoma.
Frontiers in immunologyThyroid-originated pleomorphic rhabdomyosarcoma with novel TP 53 intron frameshift mutation: a case report and literature review.
World journal of surgical oncologySystemic STING agonist therapy drives expression of interferon stimulated genes and downstream production of cytokines in dogs with solid tumors.
Journal for immunotherapy of cancerEvaluation of event-free survival as a surrogate for overall survival in genitourinary rhabdomyosarcoma.
Urologic oncologyMicroRNA Profiling Identifies Diagnostic and Prognostic Markers in Pediatric Sarcoma.
CancersSingle-Cell Sequencing Reveals Novel Tumor Populations and Their Interplay with the Immune Microenvironment in a Pleomorphic Rhabdomyosarcoma.
International journal of molecular sciencesThe PIK3CA/AKT pathway drives therapy resistance in rhabdomyosarcoma.
Nature communicationsA Challenging Diagnosis of Primary Cutaneous Melanoma With Rhabdomyosarcomatous Differentiation: A Case Study and Review of the Literature.
The American Journal of dermatopathologyDisruption of the centriolin/Cep110 gene (CNTRL) with CRISPR/Cas9 leads to cell cycle arrest and cell death of rhabdomyosarcoma cells in vitro.
Molecular biology of the cellMalignant Transformation of a Pediatric Intracranial Nongerminomatous Germ Cell Tumor to Embryonal Rhabdomyosarcoma: Case Report and Literature Review.
Journal of pediatric hematology/oncologyNavigating Management of Spindle Cell/Sclerosing Rhabdomyosarcoma With FUS::TFCP2 Fusion in the Era of Targeted Therapy.
Journal of pediatric hematology/oncology99mTc-FAPI Scintigraphy in Metastasis Workup of Sinonasal Rhabdomyosarcoma; Unveiling Diffuse Bone Marrow Involvement.
Clinical nuclear medicineOrbital Rhabdomyosarcoma With Bone Marrow Involvement: A Case Report.
CureusCandindoles A and B, Heterozygous Terphenyl-Indole Alkaloids with Antifungal and Cytotoxic Activities from the Marine-Derived Fungus Aspergillus candidus HNNU0546.
Journal of natural productsBCOR Mutations Identify a Clinically Aggressive Subset of Pediatric Rhabdomyosarcoma.
Fetal and pediatric pathology[Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing].
Zhonghua bing li xue za zhi = Chinese journal of pathologyBiological characteristics of an enterovirus A71 subgroup C4 strain isolated in China.
BMC infectious diseasesLysine p-nitroanilide impairs cellular energetics and potentiates statin-induced cytotoxicity in RD rhabdomyosarcoma cells.
PloS oneNeurolysis of the Sphenopalatine Ganglion for Refractory Facial Pain in a Paediatric Cancer Patient: A Case Report.
Indian journal of palliative careActivity of direct KRAS(G12C) inhibitors in preclinical models of pediatric cancer.
Molecular cancer therapeuticsSinonasal DICER1‑mutated embryonal-like (botryoid-like) rhabdomyosarcoma in an adult: report of the first case.
Virchows Archiv : an international journal of pathologyInflammatory Rhabdomyoblastic Tumor With Extensive Necrosis and Overdiagnosis in Biopsy Specimens: A Rare Case Report.
International journal of surgical pathologyChallenges in the management of advanced rhabdomyosarcoma of the shoulder in a teenage boy: A case report.
International journal of surgery case reportsNetwork Pharmacology and In Vitro Cell Experimental Study for Exploring the Therapeutic Potential of Thiazolone Derivatives in Rhabdomyosarcoma.
Journal of visualized experiments : JoVEOrbital masses: a review of CT imaging characteristics.
Frontiers in ophthalmologyPazopanib therapy for children, adolescents, and young adults with relapsed and refractory sarcomas.
Japanese journal of clinical oncologyCytological Features of Spindle Cell Lesions of the Head and Neck and Review of the Literature.
Acta cytologicaPrimary Cardiac Osteosarcoma: Epidemiology, Diagnosis, and Management - A Narrative Review.
Orthopedic reviewsDehydroascorbic Acid Induces Cell Death in Sarcoma Stem Cells Under bFGF-Mediated Stemness-Supporting Conditions.
Antioxidants (Basel, Switzerland)Giant Orbital Rhabdomyosarcoma.
American journal of ophthalmology[Antibodies against VP3 protein of echovirus 30 (Picornaviridae: Enterovirus: Enterovirus betacoxsackie) neutralize virus in vitro].
Voprosy virusologiiClinicopathological Profiles and Outcomes of Low vs High PSA Metastatic Prostate Adenocarcinoma: a Retrospective Study from a Single Tertiary Care Centre in South India.
Indian journal of surgical oncologyMultivisceral and Vascular Resection for a Locally Advanced Adult Retroperitoneal Rhabdomyosarcoma: Navigating a Clinical Challenge.
Indian journal of surgical oncologyMelanoma to rhabdomyosarcoma plasticity in the setting of immunotherapy.
medRxiv : the preprint server for health sciencesClinicopathological Features and Therapeutic Outcomes of Head and Neck Sarcomas: A 14-Year Retrospective Study.
CureusTAK1 is a key regulator of oncogenic signaling and differentiation blockade in rhabdomyosarcoma.
bioRxiv : the preprint server for biologyFunctional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.
Clinical geneticsSurvival outcomes and prognostic factors in temporal bone malignancies: A retrospective cohort of 20 patients.
Oncology lettersInvolvement of the FGF8/FGF Receptor Signaling Pathway in the Maintenance and Progression of Fusion-Positive Rhabdomyosarcoma.
Molecular cancer therapeuticsPrimary Gastric Alveolar Rhabdomyosarcoma.
Internal medicine (Tokyo, Japan)Molecular Relationship Between Ovarian Sertoli-Leydig Cell Tumors and Their Heterologous Elements: Emphasis on the Possible Prognostic Significance of TERT Pathogenic Variants.
The American journal of surgical pathologyPannexin 1 induces Rhabdomyosarcoma cell fusion by downregulating APOBEC2.
OncogenesisGeneration of an iPSC-derived alveolar rhabdomyosarcoma cell line during directed endothelial differentiation.
Stem cell researchInhibiting cholesterol synthesis halts rhabdomyosarcoma growth via ER stress and cell cycle arrest.
EMBO molecular medicineEsophageal pleomorphic rhabdomyosarcoma: a rare high-grade sarcoma managed with upfront resection.
Journal of surgical case reportsThe strategic use of embolization in treating infantile fibrosarcoma-related heart failure: a case report.
Frontiers in surgeryDICER1 -Associated Gynecologic Neoplasms: An Update and Review.
Advances in anatomic pathologyAggressive Paratesticular Spindle Cell Rhabdomyosarcoma in an Adult: A Rare Case and Review of Reported Adult Cases.
Clinical genitourinary cancerClinical characteristics and target exploration via scRNA-seq and high-throughput drug screening of FOXO1 fusion positive rhabdomyosarcoma.
Pediatric surgery internationalSegregation of the rare TP53 germline missense variant c.314G>T, p.Gly105Val in Algerian family with Li-Fraumeni Syndrome: First report.
Cancer geneticsCanSig Benchmarks Methods for Reproducible Cancer Cell State Discovery from Single-Cell Transcriptomic Data.
Cancer researchLncRNA RMST contributes to neuroinflammation after traumatic brain injury by targeting miR-139-5p.
Folia neuropathologicaVesicovaginal Leiomyoma at 20 Years of Age-A Rare Clinical Entity: Case Report and Literature Review.
Diagnostics (Basel, Switzerland)A case report: pediatric rhabdomyosarcoma presenting with bone marrow metastasis.
BMC pediatricsAn open-label, randomized study comparing lipegfilgrastim with filgrastim in pediatric patients receiving chemotherapy for Ewing sarcoma or rhabdomyosarcoma.
Scientific reportsProton beam therapy indications in the Kingdom of Saudi Arabia: A SARO clinical practice guideline.
Saudi medical journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors.
- Gene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.
- Local Control of Bladder/Prostate Rhabdomyosarcoma: An Expert Consensus Guideline From the International Soft Tissue Sarcoma Consortium (INSTRuCT).
- First-in-Class Small Molecule Inhibitor of Oncogene AVIL in Glioblastoma.
- Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.
- Giant Adenomatoid Tumor of the Tunica Albuginea Presenting as Chronic Scrotal Swelling in an Elderly Male: A Report of a Rare Case.
- myoActivation® for Chronic Pain Care That Changes the Biotensegral Properties of the Human Body: A Motion Laboratory Case Report.
- A global clinicopathologic and molecular portrait of spindle cell/sclerosing rhabdomyosarcoma with emphasis on retroperitoneal cases.
- Sclerosing Rhabdomyosarcoma Arising in Desmoid Fibromatosis 17 Years After Therapeutic Radiation.
- Primary Prostatic Alveolar Rhabdomyosarcoma in Adult, a Diagnostic Pitfall: Report of an Extremely Rare Tumor.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:780(Orphanet)
- MONDO:0005212(MONDO)
- GARD:11951(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1898141(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
