É um tipo de câncer que cresce rapidamente e se forma em tecidos como músculos, gordura ou ossos. Ele é caracterizado pela presença de células arredondadas com características de células musculares e por um tecido de suporte com vasos sanguíneos e fibras, que lembra um padrão de pequenos "sacos" ou "bolhas". Geralmente, esse tumor surge nos braços e nas pernas.
Introdução
O que você precisa saber de cara
É um tipo de câncer que cresce rapidamente e se forma em tecidos como músculos, gordura ou ossos. Ele é caracterizado pela presença de células arredondadas com características de células musculares e por um tecido de suporte com vasos sanguíneos e fibras, que lembra um padrão de pequenos "sacos" ou "bolhas". Geralmente, esse tumor surge nos braços e nas pernas.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 2 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
5 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.
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
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.
Variantes genéticas (ClinVar)
1,794 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 19 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
45 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, alveolar
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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
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
23 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
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.
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.
Perianal Rhabdomyosarcoma Mimicking Perianal Abscess: Case Report and Literature Review.
Perianal rhabdomyosarcoma is an exceedingly rare and aggressive soft tissue malignancy that can mimic benign conditions, such as perianal abscesses, which complicates its diagnosis and treatment. This study reports a case of perianal RMS and discusses the management approach and the challenges in diagnosis. A 26-year-old woman with a past medical history of breast cancer, treated with partial mastectomy, chemotherapy, and radiation therapy, presented with a recurrent perianal mass initially drained multiple times for presumed abscesses. Upon further evaluation, physical examination revealed a 7-cm perianal wound with purulent and bloody discharge. Imaging studies revealed a lobulated mass in the perineal area with involvement of the anus. Biopsy confirmed the diagnosis of alveolar RMS. The patient was treated with six cycles of neoadjuvant chemotherapy, followed by excisional biopsy. The tumor was resected with clear margins and immunohistochemical analysis confirmed the diagnosis. Adjuvant chemotherapy was initiated, and the patient remains asymptomatic at 6-month follow-up. Rhabdomyosarcoma should be considered in the differential diagnosis of perianal masses, especially in cases with recurrence or unusual clinical presentation. Early recognition and appropriate multidisciplinary management, including chemotherapy and surgical excision, are essential for favorable outcomes.
Clinicopathological and molecular features of breast metastases in alveolar rhabdomyosarcoma: A series of 3 cases.
Breast metastases are exceedingly uncommon in pediatric and adolescent populations; however, rhabdomyosarcoma (RMS) is the predominant histological subtype in such cases. Metastatic RMS and primary breast tumors may exhibit overlapping histological features, potentially leading to misclassification. In a cohort of 318 RMS patients treated at our institution between 2011 and 2025, we identified three female patients aged 16, 17, and 31 years who showed breast metastases. All three patients had alveolar RMS (ARMS), with their primary tumors located in the sinonasal region (two patients) and buttocks (one patient). The detection of breast metastases occurred within 0-9 months of the initial diagnosis. Histopathological examination revealed tumors composed of small, round cells organized in alveolar or solid nests, demonstrating infiltrative growth and significant cytologic atypia. Immunohistochemical analyses showed the tumor cells to display strong diffuse positivity for desmin, MyoD1, and myogenin, with Ki-67 proliferation indices that ranged from 70% to 85%. All tumors exhibited FOXO1 rearrangements, as determined by fluorescence in situ hybridization, with two tumors demonstrating 3' signal amplification. The tumor for patient 3 displayed a PAX3::FOXO1 fusion by next generation sequencing. After 12-months follow-up, patient 3 remained alive with disease, whereas patients 1 and 2 were lost to follow-up. In summary, breast masses in adolescent and middle-aged women comprised of small round cell tumor cells with an invasive growth pattern should prompt consideration of metastatic ARMS as a diagnostic possibility. Accurate diagnosis requires a careful integration of medical history, morphologic and immunophenotypic tumoral features, and confirmation through the detection of specific alterations in the FOXO1 gene.
Orbital rhabdomyosarcoma in an adult: a misleading presentation.
Rhabdomyosarcoma is the most common malignant mesenchymal tumor in children, whereas its occurrence in adults is exceptionally rare. When it occurs in this population, initial presentation with nonspecific rhinologic symptoms is unusual and may delay recognition of the underlying malignancy. We report the case of a 29-year-old woman who presented with progressive right-sided nasal obstruction and hyposmia, subsequently complicated by the rapid onset of unilateral proptosis. Cross-sectional imaging revealed a poorly circumscribed ethmoido-orbito-nasal mass with skull base erosion and orbital invasion, exhibiting aggressive radiologic features that initially raised suspicion for esthesioneuroblastoma. Histopathological examination ultimately confirmed alveolar rhabdomyosarcoma, staged as T2BN1M0 (IRS Group III). The patient underwent multimodal treatment combining VAC chemotherapy and conformal radiotherapy (45 Gy), resulting in an excellent clinical and radiologic response, with complete resolution of proptosis and significant visual recovery at 1-year follow-up. This case emphasizes the diagnostic challenges of adult orbital rhabdomyosarcoma with sinonasal extension and highlights the pivotal role of advanced imaging and histopathology in guiding accurate diagnosis and appropriate management. The rarity and unusual clinical presentation of this case underscore its value for publication.
Publicações recentes
Primary Prostatic Alveolar Rhabdomyosarcoma in Adult, a Diagnostic Pitfall: Report of an Extremely Rare Tumor.
ALK-Negative Systemic Anaplastic Large Cell Lymphoma With Multifocal Cutaneous Involvement Responding to Brentuximab Vedotin.
Resection of a Deep Pubic Alveolar Rhabdomyosarcoma With an Inferior Pubic Ramus Osteotomy Through a Perineal Approach: A Case Report.
Small Round Cell Tumors of Soft Tissue and Skeleton in Children and Youth: A Narrative and TruSight-Based Illustrative Review of Diagnostic Cases.
Perianal Rhabdomyosarcoma Mimicking Perianal Abscess: Case Report and Literature Review.
📚 EuropePMC662 artigos no totalmostrando 199
Perianal Rhabdomyosarcoma Mimicking Perianal Abscess: Case Report and Literature Review.
Case reports in oncologyGene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.
International journal of molecular sciencesClinicopathological and molecular features of breast metastases in alveolar rhabdomyosarcoma: A series of 3 cases.
Annals of diagnostic pathologyOrbital rhabdomyosarcoma in an adult: a misleading presentation.
Radiology case reportsBeyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.
Translational vision science & technologyDiagnostic value of ultrasound parameters combined with clinical features in children with alveolar and non- alveolar rhabdomyosarcoma.
Medical ultrasonographyPelvic Location Predicts Worse Outcomes in Alveolar Rhabdomyosarcoma: Underuse of Radiotherapy and Missed Survival Benefit.
Journal of surgical oncologyIntratumor heterogeneity and clonal evolution in sarcomas: Molecular, cellular, and functional drivers of therapy resistance.
Seminars in cancer biologyAlveolar rhabdomyosarcoma with multiple bone marrow metastases: a case report.
BJR case reportsPredictors of survival in alveolar rhabdomyosarcoma in the US.
Annals of medicine and surgery (2012)MIR17HG Expression Is Transcriptionally Regulated by PAX3::FOXO1 and MYCN and is Necessary for Oncogenic Activity in Fusion-Positive Rhabdomyosarcoma.
bioRxiv : the preprint server for biologyAlveolar rhabdomyosarcoma of the paranasal sinuses with delayed diagnosis in a resource-constrained clinical setting: a case report.
Oxford medical case reportsPrimary Uterine Alveolar Rhabdomyosarcoma: A Rare Entity.
International journal of surgical pathologyPrimary Gastric Alveolar Rhabdomyosarcoma.
Internal medicine (Tokyo, Japan)Generation of an iPSC-derived alveolar rhabdomyosarcoma cell line during directed endothelial differentiation.
Stem cell researchA case report: pediatric rhabdomyosarcoma presenting with bone marrow metastasis.
BMC pediatricsCutaneous metastases of alveolar rhabdomyosarcoma in a young adult.
JAAD case reportsPineal alveolar rhabdomyosarcoma with PAX3 fusion: A specific clinico-radio-histomolecular type in the CNS.
Journal of neuropathology and experimental neurologyPLA2 driven lipid signaling drives ARMS tumorigenic cell properties.
Cell communication and signaling : CCSCase Report: Relapsed alveolar rhabdomyosarcoma treated with abemaciclib, temozolomide, and irinotecan in the JPCS study.
Frontiers in oncologyFusion-Negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAlveolar Rhabdomyosarcoma With Bone Marrow Metastases and Disseminated Intravascular Coagulation Mimicking Acute Lymphoblastic Leukemia: A Case Report.
CureusCDK8 Inhibition Releases the Muscle Differentiation Block in Fusion-driven Alveolar Rhabdomyosarcoma.
bioRxiv : the preprint server for biologyCase Report of Maxillary Alveolar Rhabdomyosarcoma Misdiagnosed as Periapical Lesion: Clinicopathological Alerts and Life-Saving Lessons for Dentists.
Australian endodontic journal : the journal of the Australian Society of Endodontology IncAlveolar rhabdomyosarcoma of cervix: A case report.
MedicineAlveolar paratesticular rhabdomyosarcoma mimicking an epididymal abscess: An intraoperative discovery.
Urology case reportsThe implications of abnormal signal patterns of break-apart FISH probes used in the diagnosis of bone and soft tissue tumours.
Pathology oncology research : PORSmall cell carcinoma with rhabdomyosarcomatous differentiation of the urinary bladder: an integrated clinicopathological and molecular characterization of five cases.
Virchows Archiv : an international journal of pathologyProton beam therapy for a patient with prostatic rhabdomyosarcoma: a case report and review of the literature.
Frontiers in oncologySynthetic inhibition of the SUMO pathway by targeting the SAE1 component via TAK-981 compound impairs growth and chemosensitizes embryonal and alveolar rhabdomyosarcoma cell lines.
Molecular and cellular biochemistryMolecular Targets in Alveolar Rhabdomyosarcoma: A Narrative Review of Progress and Pitfalls.
International journal of molecular sciences[Detection of MYOD1-mutation of rhabdomyosarcoma and its clinicopathological characteristics].
Zhonghua bing li xue za zhi = Chinese journal of pathology18 F-FAPI PET/CT in An Adult Orbital-Nasal Alveolar Rhabdomyosarcoma: Comparisons With 18 F-FDG PET/CT.
Clinical nuclear medicineAge-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic target.
Pharmacological researchRhabdomyosarcoma in adults with severe thrombocytopenia: Challenges in clinical management and therapeutic complications.
Respiratory medicine case reportsHyperbaric Oxygen Therapy in Doxorubicin Extravasation: A Promising Future Treatment?: A Case Report.
Journal of pediatric hematology/oncologyPAX translocations remodel mitochondrial metabolism through altered leucine usage in rhabdomyosarcoma.
CellThe Emerging Role and Clinical Significance of PI3K-Akt-mTOR in Rhabdomyosarcoma.
BiomoleculesPrimary pineal alveolar rhabdomyosarcoma in an adult patient: a case report and literature review.
BMC neurologyRhabdomyosarcoma Harboring NRAS or HRAS Mutation Arising in Giant Congenital Melanocytic Nevus: Report of 2 Cases.
The American Journal of dermatopathologyAlveolar Rhabdomyosarcoma of Nasopharynx and Paranasal Sinuses in Children Diagnosis and Treatment-Review of the Literature and Case Report.
Medicina (Kaunas, Lithuania)Prognostic factors in patients with localized and metastatic alveolar rhabdomyosarcoma. A report from two studies and two registries of the Cooperative Weichteilsarkom Studiengruppe CWS.
Cancer medicine[Alveolar rhabdomyosarcoma with amplification of 12q15 region including MDM2 and FRS2 genes: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyPrimary perianal alveolar rhabdomyosarcoma with uncommon metastatic sites: a case report and follow-up using 18F-FDG PET/CT.
Frontiers in medicineMaintenance therapy with trofosfamide, idarubicin and etoposide in patients with rhabdomyosarcoma and other high-risk soft tissue sarcomas (CWS-2007-HR): a multicentre, open-label, randomised controlled phase 3 trial.
EClinicalMedicine[Characteristics of the cytogenetic variants of alveolar rhabdomyosarcoma].
Arkhiv patologiiTreatment of Pediatric, Adolescent, and Young Adult Patients With Fusion-Positive Alveolar Rhabdomyosarcoma Infiltrating Regional Lymph Nodes in the European CWS-2002P and RMS 2005 Studies and the Soft Tissue Sarcoma Registry.
Pediatric blood & cancerAlveolar Paratesticular Rhabdomyosarcoma in an Adult Patient With PAX3-FOXO1 Fusion and Unfavorable Evolution.
CureusIsolated Pancreatic Metastasis in a Patient With Orbital Rhabdomyosarcoma: A Report of a Rare Case.
CureusPropofol-induced transient arginine vasopressin deficiency.
Endocrinology, diabetes & metabolism case reportsA Case Report on Alveolar Rhabdomyosarcoma in an Indigenous Dog.
Veterinary medicine and sciencePrimary Gastric Alveolar Rhabdomyosarcoma: A Potent Mimicker of Neuroendocrine Carcinoma.
CureusCaspase-Activated DNase localizes to cancer causing translocation breakpoints during cell differentiation.
bioRxiv : the preprint server for biologyA comparative in vivo study of hyperthermic intraperitoneal chemotherapy with cisplatin versus doxorubicin versus cisplatin plus doxorubicin for the treatment of intra-abdominally disseminated alveolar rhabdomyosarcoma in mice.
Pediatric blood & cancerHead and neck sarcomas: Thirty years of experience in a tertiary referral center in Brazil.
Head & neckA bright future for multidisciplinary approach to cancer care in the setting of limited resource.
Translational oncologyA rare case of perianal alveolar rhabdomyosarcoma.
Clinical case reportsEvaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples.
CancersPAX fusion proteins deregulate gene networks controlling mitochondrial translation in pediatric rhabdomyosarcoma.
bioRxiv : the preprint server for biologySinonasal alveolar rhabdomyosarcoma with PAX3::NCOA1 fusion expressing SOX10 and with nodal metastases: a double diagnostic pitfall.
Journal of clinical pathologyEntinostat as a combinatorial therapeutic for rhabdomyosarcoma.
Scientific reportsNovel PAX3::MAML3 Fusion Identified in Alveolar Rhabdomyosarcoma, Using DNA Methylation Profiling to Expand the Genetic Spectrum of "Fusion-Positive" Cases.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncMassive Bone Marrow Infiltration by Disseminated Alveolar Rhabdomyosarcoma Mimicking Acute Leukemia.
Journal of pediatric hematology/oncologyPrimary Alveolar Rhabdomyosarcoma of the Thyroid: A Case Report.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaClinical characteristics and outcomes of adult alveolar rhabdomyosarcoma patients on first-line systemic therapies: A single-institution cohort.
Rare tumorsHyperfibrinolysis during the treatment of rhabdomyosarcoma.
Research and practice in thrombosis and haemostasisISLET-1 expression in soft tissue neoplasms reveals high sensitivity but moderate specificity for desmoplastic small round cell tumors and potential utility as a diagnostic biomarker.
Pathology, research and practiceA Case of Alveolar Rhabdomyosarcoma of the Nasal Cavity in an Adult: An Unusual Location.
CureusAn extremely rare case of primary alveolar rhabdomyosarcoma in the central nervous system.
Surgical neurology internationalPathologic features of head and neck adult rhabdomyosarcoma: Case series.
International journal of surgery case reports18F-FDG PET/CT findings of paratesticular alveolar rhabdomyosarcoma.
Cancer innovationDevelopmental and therapeutic implications of IL4ra expression for rhabdomyosarcoma.
Transgenic researchCase report: Lymph node metastasis of pelvic alveolar rhabdomyosarcoma diagnosed by fine needle aspiration cytology.
Frontiers in oncologyCase report: A left forearm mass with eccentric intramedullary ulnar destruction diagnosed as alveolar rhabdomyosarcoma and treated by wide resection and free vascularized fibular graft.
Frontiers in oncologySpontaneous tumor lysis syndrome in an adult with alveolar rhabdomyosarcoma: a challenging diagnosis.
Oxford medical case reportsEvaluation of Hi-C sequencing for the detection of gene fusions in hematologic and solid pediatric cancer samples.
medRxiv : the preprint server for health sciencesEmbryonal and alveolar rhabdomyosarcoma in adolescents/young adults, adults and older adults: a population-based cohort study.
Japanese journal of clinical oncologyPediatric Prostatic Alveolar Rhabdomyosarcoma Presenting with Metastatic Spinal Cord Compression in the Thoracic Spine: A Case Report and Review of the Literature.
CureusSevere Vincristine-Induced Peripheral Neuropathic Weakness in Both Lower Limbs in an Asian Adolescent with CYP3A4 rs2740574 TT Genotype.
Pharmacogenomics and personalized medicineMultimodality Imaging Evaluation of Nasal Rhabdomyosarcoma in Adults: A Case Report and Literature Review.
Current radiopharmaceuticalsFGFR1 fusions as a novel molecular driver in rhabdomyosarcoma.
Genes, chromosomes & cancerPrimary alveolar rhabdomyosarcoma of the brain: a case report.
Journal of medical case reportsUnraveling the Clinicopathological Diversity and Subtypes of Rhabdomyosarcoma: A Study From a Tertiary Care Center.
CureusTransforming Growth Factor Beta and Alveolar Rhabdomyosarcoma: A Challenge of Tumor Differentiation and Chemotherapy Response.
International journal of molecular sciencesAlveolar Rhabdomyosarcoma of the Temporal Region with Metastatic Cervical Lymph Node.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaDivergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers.
Frontiers in immunologyNeopetrotaurines A-C, Isoquinoline Alkaloids with an Unprecedented Taurine Bridge from the Sponge Neopetrosia sp.
Journal of natural products[Cytopathological characterization of alveolar rhabdomyosarcoma in serous effusions].
Zhonghua bing li xue za zhi = Chinese journal of pathologyIncidence and survival for childhood cancer by endorsed non-stage prognostic indicators in Australia.
Pediatric blood & cancerSilent Killer in the Nose: Two Cases of Nasal Alveolar Rhabdomyosarcoma in Adults.
CureusOrbital Rhabdomyosarcoma Masquerading as a Dermoid Cyst: A Case Report and Review of the Literature.
CureusBRD4 isoforms have distinct roles in tumour progression and metastasis in rhabdomyosarcoma.
EMBO reportsPrognostic Factors in Pediatric Alveolar Rhabdomyosarcoma: SEER Analysis of 277 Cases.
Clinical pediatricsPAX3-FOXO1 uses its activation domain to recruit CBP/P300 and shape RNA Pol2 cluster distribution.
Nature communicationsInduction Chemotherapy Prior to Endoscopic Resection of Alveolar Rhabdomyosarcoma.
CureusAn unusual presentation of neonatal rhabdomyosarcoma: a case report.
Frontiers in pediatricsRhabdomyosarcoma: Current Therapy, Challenges, and Future Approaches to Treatment Strategies.
Cancers"My Home Away From Home": Community Support for International Pediatric and Young Adult Patients and Their Families in End-of-Life Care and Bereavement.
Journal of palliative medicineTransorbital endoscopic ultrasonography (with video).
Gastrointestinal endoscopySimultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes.
GenesFunctional Genomics of Novel Rhabdomyosarcoma Fusion-Oncogenes Using Zebrafish.
Methods in molecular biology (Clifton, N.J.)ErbB2 (HER2)-CAR-NK-92 cells for enhanced immunotherapy of metastatic fusion-driven alveolar rhabdomyosarcoma.
Frontiers in immunologyA systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.
Pediatric blood & cancerDetection of various fusion genes by one-step RT-PCR and the association with clinicopathological features in 242 cases of soft tissue tumor.
Frontiers in cell and developmental biologyCircAFF1 Is a Circular RNA with a Role in Alveolar Rhabdomyosarcoma Cell Migration.
BiomedicinesPRAME immunohistochemistry in soft tissue tumors and mimics: a study of 350 cases highlighting its imperfect specificity but potentially useful diagnostic applications.
Virchows Archiv : an international journal of pathologyAlveolar Rhabdomyosarcoma of the Nasal Dorsum of a Pediatric Patient: A Case Report.
Ear, nose, & throat journalImpact of age on survival according to molecular tumor findings in children and adolescents with soft-tissue and bone sarcoma: The BIOSCA project.
Cancer epidemiologyA perfusion-based three-dimensional cell culture system to model alveolar rhabdomyosarcoma pathological features.
Scientific reports18 F-FDG PET/CT of Alveolar Rhabdomyosarcoma of Prostate in a 17-Year-Old Boy.
Clinical nuclear medicineAlveolar rhabdomyosarcoma with multiple bone marrow infiltration.
The Lancet. OncologyClinical-pathologic profile of head and neck rhabdomyosarcoma in children: a systematic review.
Journal of the Korean Association of Oral and Maxillofacial SurgeonsPrimary alveolar rhabdomyosarcoma in the stomach of an adult: A case report.
Oncology lettersAlveolar rhabdomyosarcoma has superior response rates to vinorelbine compared to embryonal rhabdomyosarcoma in patients with relapsed/refractory disease: A meta-analysis.
Cancer medicineIntraspinal alveolar rhabdomyosarcoma: A case report.
Asian journal of surgeryProtocol for the 2ND-STEP study, Japan Clinical Oncology Group study JCOG1802: a randomized phase II trial of second-line treatment for advanced soft tissue sarcoma comparing trabectedin, eribulin and pazopanib.
BMC cancerSurvival of patients with orbital and eyelid rhabdomyosarcoma treated on Children's Oncology Group studies from 1997 to 2013: A report from the Children's Oncology Group.
CancerSubtype-selective induction of apoptosis in translocation-related sarcoma cells induced by PUMA and BIM upon treatment with pan-PI3K inhibitors.
Cell death & disease11C-Methionine PET/CT and 18F-FDG PET/CT in the Evaluation of Adult Alveolar Rhabdomyosarcoma.
Molecular imaging and radionuclide therapyCombined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.
NPJ precision oncology[Alveolar rhabdomyosarcoma: novel surrogate markers associated with oncogenic translocation].
Arkhiv patologiiSingle-cell profiling of alveolar rhabdomyosarcoma reveals RAS pathway inhibitors as cell-fate hijackers with therapeutic relevance.
Science advancesBreast Metastases After Treatment of Alveolar Rhabdomyosarcoma.
Journal of breast imagingCutaneous Metastasis of Alveolar Rhabdomyosarcoma in a Child.
The American Journal of dermatopathologyPAX-FOXO1 fusion status in children and adolescents with alveolar rhabdomyosarcoma: Impact on clinical, pathological, and survival features.
Pediatric blood & cancerBiphenotypic sinonasal sarcoma with PAX3::MAML3 fusion transforming into high-grade rhabdomyosarcoma: report of an emerging rare phenomenon.
Virchows Archiv : an international journal of pathologyBaseline Characteristics, Prognostic Factors, and Treatment Outcomes for Adult Patients With Rhabdomyosarcoma (RMS).
CureusAlveolar Rhabdomyosarcoma with CD 56 Positivity: A Mimic of Extranodal NK/T Cell Lymphoma.
Journal of cytologyHistone variant H3.3 promotes metastasis in alveolar rhabdomyosarcoma.
The Journal of pathologyFOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.
Fetal and pediatric pathologyA case of complete response to chemotherapy followed by cystectomy for adult-onset rhabdomyosarcoma of the bladder.
Urology case reportsEvidence for a chemical arms race between cuckoo wasps of the genus Hedychrum and their distantly related host apoid wasps.
BMC ecology and evolutionMultimodality imaging evaluation of nasal sinus alveolar rhabdomyosarcoma: Two case reports.
Frontiers in medicineAlveolar rhabdomyosarcoma of epididymis: A case report.
Frontiers in oncologyA rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis-the importance of expert sarcoma pathology.
EcancermedicalscienceRetroperitoneal alveolar rhabdomyosarcoma intruding into spinal canal: A case report and literature review.
Frontiers in medicinemRNA Capture Sequencing and RT-qPCR for the Detection of Pathognomonic, Novel, and Secondary Fusion Transcripts in FFPE Tissue: A Sarcoma Showcase.
International journal of molecular sciencesNeomorphic DNA-binding enables tumor-specific therapeutic gene expression in fusion-addicted childhood sarcoma.
Molecular cancerOrbital Exenteration and Brachytherapy for the Treatment of Pediatric, Fusion-positive, Recurrent Rhabdomyosarcoma.
Plastic and reconstructive surgery. Global openA phase I trial of metformin in combination with vincristine, irinotecan, and temozolomide in children with relapsed or refractory solid and central nervous system tumors: A report from the national pediatric cancer foundation.
Cancer medicineAdult omental alveolar rhabdomyosarcoma: An unusual site. A case report and literature review.
Annals of medicine and surgery (2012)A rare case of metastatic paraspinal rhabdomyosarcoma presenting with proptosis in an adult patient.
Orbit (Amsterdam, Netherlands)Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice.
Communications biologyCXCL10-armed oncolytic adenovirus promotes tumor-infiltrating T-cell chemotaxis to enhance anti-PD-1 therapy.
OncoimmunologyAlveolar rhabdomyosarcoma with massive bone marrow infiltration and disseminated intravascular coagulation mimicking acute leukemia.
EJHaemThe RNA helicase DDX5 cooperates with EHMT2 to sustain alveolar rhabdomyosarcoma growth.
Cell reportsFusion-negative rhabdomyosarcoma with diffuse bony metastases and remarkable chemosensitivity.
BMJ case reportsExploitation of High Tumour GSH Levels for Targeted siRNA Delivery in Rhabdomyosarcoma Cells.
BiomoleculesGiant primary cardiac alveolar rhabdomyosarcoma of the right atrium.
Journal of cardiac surgeryExon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcoma.
Cold Spring Harbor molecular case studiesTherapeutic targeting of ATR in alveolar rhabdomyosarcoma.
Nature communicationsTargeting KDM4 for treating PAX3-FOXO1-driven alveolar rhabdomyosarcoma.
Science translational medicineA Phase I Trial of TB-403 in Relapsed Medulloblastoma, Neuroblastoma, Ewing Sarcoma, and Alveolar Rhabdomyosarcoma.
Clinical cancer research : an official journal of the American Association for Cancer ResearchSpindle Cell/Sclerosing Rhabdomyosarcoma of the Orbit.
Ophthalmic plastic and reconstructive surgeryImmunoreactivity against fibroblast growth factor 8 in alveolar rhabdomyosarcoma patients and its involvement in tumor aggressiveness.
OncoimmunologyTumor suppressive functions of WNT5A in rhabdomyosarcoma.
International journal of oncologySarcoma of unknown primary: myth or reality?
Journal of the Egyptian National Cancer InstituteIncreasing the efficiency of hyperthermic intraperitoneal chemotherapy (HIPEC) by combination with a photosensitive drug in pediatric rhabdomyosarcoma in an animal model.
Pediatric blood & cancerAlveolar rhabdomyosarcoma with cannibalism and erythroid leukaemia-like morphology.
International journal of laboratory hematologyAlveolar Paratesticular Rhabdomyosarcoma in an Adult Patient Mimicking Epididymo-Orchitis: A Case Report and a Literature Review.
CureusNo Improvement of Survival for Alveolar Rhabdomyosarcoma Patients After HLA-Matched Versus -Mismatched Allogeneic Hematopoietic Stem Cell Transplantation Compared to Standard-of-Care Therapy.
Frontiers in oncologyDVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
Scientific reportsPlexin-B2 and Semaphorins Do Not Drive Rhabdomyosarcoma Proliferation or Migration.
SarcomaEctopic parathyroid hormone as a rare aetiology of hypercalcemia with rhabdomyosarcoma: a new treatment strategy with zoledronic acid and Denosumab.
Journal of pediatric endocrinology & metabolism : JPEMRhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion.
International journal of surgical pathologyMachine learning for rhabdomyosarcoma histopathology.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncUse of Porcine Urinary Bladder Matrix in Socket Reconstruction After Pediatric Orbital Exenteration.
Ophthalmic plastic and reconstructive surgeryThe Small Round Cell Sarcomas Complexities and Desmoplastic Presentation.
Acta cytologicaMetastatic ethmoidal alveolar rhabdomyosarcoma presenting as a scalp nodule in an adult woman.
JAAD case reportsDeep Learning of Rhabdomyosarcoma Pathology Images for Classification and Survival Outcome Prediction.
The American journal of pathologyAlveolar Rhabdomyosarcoma of the Parotid Region: A Cytopathological Diagnosis.
Journal of cytologyFusion transcripts as liquid biopsy markers in alveolar rhabdomyosarcoma and synovial sarcoma: A report of the Cooperative Weichteilsarkom Studiengruppe (CWS).
Pediatric blood & cancerRhabdomyosarcoma With Diffuse Bone Marrow Metastases.
CureusAdult Primary Pineal Alveolar Rhabdomyosarcoma with FOXO1 Gene Rearrangement and OLIG2 Expression: A Rare Case Report and Literature Review.
International journal of surgical pathologyLocoregional Control and Survival in Children, Adolescents, and Young Adults With Localized Head and Neck Alveolar Rhabdomyosarcoma-The French Experience.
Frontiers in pediatricsPrimary Pulmonary Alveolar Rhabdomyosarcoma in a Pediatric Patient: A Case Report With Literature Review.
CureusA rare cause of oligoanuric kidney failure - a diagnosis not to miss: Answers.
Pediatric nephrology (Berlin, Germany)[Expression and diagnostic value of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma].
Zhonghua bing li xue za zhi = Chinese journal of pathologySMARCA4 biology in alveolar rhabdomyosarcoma.
OncogeneAn Integrative Morphologic and Molecular Approach for Diagnosis and Subclassification of Rhabdomyosarcoma.
Archives of pathology & laboratory medicine[Primary Rhabdomyosarcoma of the Breast in a 16-Year-Old Girl].
Gan to kagaku ryoho. Cancer & chemotherapyPrimary Cutaneous Alveolar Rhabdomyosarcoma in an Elderly Adult: A Rare Potential Mimic of Merkel Cell Carcinoma.
The American Journal of dermatopathology[Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaMetastatic Alveolar Rhabdomyosarcoma with Extensive Bone Marrow Replacement in an Older Adult.
Case reports in oncologyEHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
The Journal of pathologyA new valid rhabdomyosarcoma spheroid culture model for in vitro evaluation of hypericin-based photodynamic therapy.
Pediatric blood & cancerPrimary cutaneous alveolar rhabdomyosarcoma: Report of a case and literature review.
International journal of dermatologyPopulation-Based Survival Analysis of Patients With Limb Rhabdomyosarcoma and Metastasis at Diagnosis.
Frontiers in surgeryA rhabdomyosarcoma hydrogel model to unveil cell-extracellular matrix interactions.
Biomaterials scienceMethylation profiling reveals novel molecular classes of rhabdomyosarcoma.
Scientific reportsEncouraging Early Outcomes of Treatment With Arsenic Trioxide Combined With Chemotherapy for Alveolar Rhabdomyosarcoma in Children: 4 Case Reports.
Frontiers in oncologyA high-risk alveolar rhabdomyosarcoma case with Duchenne muscular dystrophy.
Pediatrics international : official journal of the Japan Pediatric SocietyAn Atypical Presentation of Sinonasal Tract Alveolar Rhabdomyosarcoma in a Young Male Patient Submitted to Multimodality Treatment.
Case reports in oncological medicineGenetic Characterization, Current Model Systems and Prognostic Stratification in PAX Fusion-Negative vs. PAX Fusion-Positive Rhabdomyosarcoma.
GenesPrimary Epithelioid Rhabdomyosarcoma of the Liver: Case Report of an Unusual Histological Variant.
International journal of surgical pathologyMalignant Gonadal Germ Cell Tumors (Other Than Pure Germinoma) in Patients With Disorders of Sex Development: A Report of 21 Cases Based Largely on the Collection of Dr Robert E. Scully, Illustrating a High Frequency of Yolk Sac Tumor With Prominent Hepatoid and Glandular Features.
The American journal of surgical pathologyReduced B7-H3 expression by PAX3-FOXO1 knockdown inhibits cellular motility and promotes myogenic differentiation in alveolar rhabdomyosarcoma.
Scientific reportsPrimary alveolar rhabdomyosarcoma of bone.
Andes pediatrica : revista Chilena de pediatriaRare Adult Subtype of Rhabdomyosarcoma, a Common Childhood Soft Tissue Carcinoma.
Journal of investigative medicine high impact case reportsAssociações
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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.
- Gene Amplification in Rhabdomyosarcoma: Lessons from a Rare Cancer.
- Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.
- Perianal Rhabdomyosarcoma Mimicking Perianal Abscess: Case Report and Literature Review.
- Clinicopathological and molecular features of breast metastases in alveolar rhabdomyosarcoma: A series of 3 cases.
- Orbital rhabdomyosarcoma in an adult: a misleading presentation.
- Primary Prostatic Alveolar Rhabdomyosarcoma in Adult, a Diagnostic Pitfall: Report of an Extremely Rare Tumor.
- ALK-Negative Systemic Anaplastic Large Cell Lymphoma With Multifocal Cutaneous Involvement Responding to Brentuximab Vedotin.
- Resection of a Deep Pubic Alveolar Rhabdomyosarcoma With an Inferior Pubic Ramus Osteotomy Through a Perineal Approach: A Case Report.
- Small Round Cell Tumors of Soft Tissue and Skeleton in Children and Youth: A Narrative and TruSight-Based Illustrative Review of Diagnostic Cases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99756(Orphanet)
- OMIM OMIM:268220(OMIM)
- MONDO:0009994(MONDO)
- GARD:4701(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4737958(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
