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GENE:

MYOD1 (Myogenic Differentiation 1)

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Other names: MYOD1, Myogenic Differentiation 1, BHLHc1, MYOD, Myoblast Determination Protein 1, Myogenic Factor 3, MYF3, PUM, Class C Basic Helix-Loop-Helix Protein 1, Myf-3 , MYODRIF, BHLHC1
Associations
5d
Metastatic Primary Intratesticular Rhabdomyosarcoma in an Adolescent with Rapid Early Response to VAC Chemotherapy: A Case Report and Literature Review of 99 Cases. (PubMed, Res Rep Urol)
A double-J ureteral stent was placed, and systemic therapy with vincristine, actinomycin D, and cyclophosphamide (VAC) was initiated. This case highlights a brisk response of disseminated intratesticular rhabdomyosarcoma to VAC chemotherapy and supports comprehensive staging and response-adapted multidisciplinary management. The complete case-level extraction and full citations are provided in the Supplementary material.
Journal
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MYOD1 (Myogenic Differentiation 1)
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cyclophosphamide • vincristine • dactinomycin
7d
Hepatic carcinosarcoma: a rare and aggressive case with unusual molecular signature! (PubMed, Front Oncol)
Paclitaxel-carboplatin chemotherapy was commenced with dose modifications for hepatotoxicity, complicated by infusion reactions, mild neuropathy, and mucositis. This case underlines the extreme morphological and molecular heterogeneity of hepatic carcinosarcomas, the rapid progression despite surgery, and the limited systemic treatment options available for such rare tumours.
Journal
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KIAA1549 • ALPP (Alkaline Phosphatase, Placental) • GPC3 (Glypican 3) • TP63 (Tumor protein 63) • MYOD1 (Myogenic Differentiation 1)
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BRAF fusion
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carboplatin • paclitaxel
12d
Paratesticular dedifferentiated liposarcoma with rhabdomyosarcomatous differentiation presenting as hydrocele in an older man: a case report. (PubMed, Ann Med Surg (Lond))
IHC and molecular analyses are crucial for an accurate diagnosis, particularly in tumors with heterologous elements that may mimic other sarcomas or germ cell tumors. Early recognition and multidisciplinary management optimize local control and surveillance planning.
Journal
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MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • MB (Myoglobin) • MYOD1 (Myogenic Differentiation 1)
17d
EP300::VGLL3 fused rhabdomyoblastic tumor revisited: Is the label "rhabdomyosarcoma" justified? (PubMed, Virchows Arch)
Given their indolent course after local excision alone, the noncommitted term EP300::VGLL3-fused rhabdomyoblastic tumor might be more appropriate for these tumors than the original RMS terminology to avoid overprognostication/overtreatment that the "rhabdomyosarcoma" label would imply. Reporting more cases is mandatory to elucidate the full anatomic and biological spectrum of this morphologically, anatomically, and genetically unique entity.
Journal
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EP300 (E1A binding protein p300) • MYOD1 (Myogenic Differentiation 1) • VGLL3 (Vestigial Like Family Member 3)
18d
Clinicopathological characteristics of anaplastic sarcoma of the kidney in children (PubMed, Zhonghua Bing Li Xue Za Zhi)
ASK in children is a rare DICER1-related tumor, with distinct histologic features and biological behavior. The differential diagnosis includes anaplastic Wilms tumor, clear cell sarcoma of the kidney, etc. Integration of clinical manifestations, histology, immunohistochemistry, and molecular studies may be required to render correct diagnosis.
Journal
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TP53 (Tumor protein P53) • DICER1 (Dicer 1 Ribonuclease III) • MYOD1 (Myogenic Differentiation 1)
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TP53 mutation
19d
Epithelioid and spindle cell rhabdomyosarcoma of the rib with FUS-TFCP2 fusion: A case report and literature review. (PubMed, Oncol Lett)
The patient succumbed to the disease 4 months after surgery. RMS with FUS-TFCP2 fusion is rare, highly aggressive and associated with a poor prognosis.
Journal
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ALK (Anaplastic lymphoma kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FUS (FUS RNA Binding Protein) • TFCP2 (Transcription Factor CP2) • MYOD1 (Myogenic Differentiation 1)
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CDKN2A deletion
28d
Case of primary digital embryonal rhabdomyosarcoma in a cat. (PubMed, Can Vet J)
Suitably, this case report provides valuable insight into the management of similar cases in cats. Key clinical message: This first reported case of digital RMS in a cat highlights the importance of studying the clinical presentation and treatment of RMS in feline patients.
Journal
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VIM (Vimentin) • MYOD1 (Myogenic Differentiation 1)
1m
Alveolar rhabdomyosarcoma with multiple bone marrow metastases: a case report. (PubMed, BJR Case Rep)
Contrast-enhanced CT/MRI revealed a mass with marked heterogeneous enhancement and an enhancing pseudocapsule, while pathological examination confirmed the diagnosis through immunohistochemical markers (MyoD1 (+), Myogenin (+), Desmin (+)). This case highlights the aggressive nature of ARMS and the importance of characteristic imaging findings.
Journal
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MYOD1 (Myogenic Differentiation 1)
1m
Progressive Metastatic Cutaneous TFCP2::FUS Fusion-Positive Rhabdomyosarcoma: A Case Report. (PubMed, Case Rep Oncol)
He was treated with vincristine, dactinomycin, and cyclophosphamide, followed by cabozantinib and pembrolizumab, and finally pembrolizumab and concurrent radiation therapy to the targetable lesions. He had a continual, rapid progression of disease and expired 2 months following radiation. This case is notable because it presents a rare example of an aggressive, TFCP2::FUS gene fusion-positive RMS presenting with multiple cutaneous metastases, and highlights that this entity is highly resistant to multiple chemotherapies, immunotherapy, and radiation therapy.
Journal • PD(L)-1 Biomarker • IO biomarker
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FUS (FUS RNA Binding Protein) • TFCP2 (Transcription Factor CP2) • MYOD1 (Myogenic Differentiation 1)
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Keytruda (pembrolizumab) • Cabometyx (cabozantinib tablet) • cyclophosphamide • vincristine • dactinomycin
1m
Integrative Transcriptomic and Perturbagen Analyses Reveal Sex-Specific Molecular Signatures Across Glioma Subtypes. (PubMed, Cancers (Basel))
Perturbagen analysis nominated signature-reversing compounds across sexes, including histone deacetylase inhibitors, Aurora kinase inhibitors, microtubule-targeting agents such as vindesine, and multi-kinase inhibitors targeting VEGFR, PDGFR, FLT3, PI3K, and MTOR. Glioma grade comparisons reveal a shared neuronal-synaptic program accompanied by sex-specific transcriptional remodeling. These findings support sex-aware therapeutic strategies that pair modulation of neuron-glioma coupling with chromatin- or receptor tyrosine kinase/angiogenic-targeted agents, and they nominate biomarkers such as GLI1, MYOD1, GCGR, PRLHR, and HIST1H2BH for near-term validation.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • GLI1 (GLI Family Zinc Finger 1) • SAA1 (Serum Amyloid A1) • HOXA9 (Homeobox A9) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) • CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit) • GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) • MYOD1 (Myogenic Differentiation 1)
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vindesine
2ms
Clinicopathological observation of adult malignant ectodermal mesenchymoma: A case report and literature review. (PubMed, Medicine (Baltimore))
Adult MEM is a biphenotypic sarcoma composed of rhabdomyosarcoma and neuroectodermal tissues. Morphological and immunohistochemical interpretation is crucial for diagnosis. treatment approaches and prognosis are correlated with the completeness of tumor resection and the differentiation degree of both components.
Review • Journal
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SYP (Synaptophysin) • MYOD1 (Myogenic Differentiation 1)
2ms
Update on pediatric soft tissue sarcomas. (PubMed, Curr Opin Pediatr)
Pediatric STS are rare and biologically heterogeneous. Genomic advances have refined risk stratification and uncovered therapeutic targets; further progress relies on international collaboration and trials.
Review • Journal • PD(L)-1 Biomarker • IO biomarker
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TP53 (Tumor protein P53) • FOXO1 (Forkhead box O1) • NTRK (Neurotrophic receptor tyrosine kinase) • MYOD1 (Myogenic Differentiation 1)
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TP53 mutation • NTRK positive • NTRK fusion
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Herceptin (trastuzumab) • Tecentriq (atezolizumab) • Vitrakvi (larotrectinib) • pazopanib • cyclophosphamide • Tazverik (tazemetostat) • Tecelra (afamitresgene autoleucel) • Navelbine oral (vinorelbine tartrate oral)