Varaico: Literature-Extracted Genetic Variants

Gene:MYOD1
Variant:p.L122R
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MYOD1

NM_002478.5:p.L122R

Associated Papers

Single-cell protein activity analysis reveals aberrant myogenesis and IGF2-PI3K pathway dependencies in MYOD1-mutant rhabdomyosarcoma.

Dermawan JK et al.

Science Advances, 2026

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Genitourinary mesenchymal neoplasms with tumor-defining genetic alterations: A clinicopathologic and molecular correlative study of 71 cases.

Chou CC et al.

Human Pathology, 2025

Clinico-Pathological and Clinical Outcomes of Soft Tissue Sarcoma With FUS-TFCP2 or EWSR1-TFCP2 Fusions: A Case Series From North India.

Agarwal K et al.

Cureus, 2025

Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile.

Rahmqvist I et al.

Npj Precision Oncology, 2025

[Detection of MYOD1-mutation of rhabdomyosarcoma and its clinicopathological characteristics].

Zhang M et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

Diagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-Generation Sequencing.

Ghabrial J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Clinicopathological Analysis of a European Cohort of MYOD1 Mutant Rhabdomyosarcomas in Children and Young Adults.

Chisholm JC et al.

Pediatric Blood & Cancer, 2025

Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors.

van Belzen IAEM et al.

Cell Genomics, 2024

39406233 (PubMed )
Supplement: mmc1.pdf

Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.

Hu Y et al.

Iscience, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor.

de Traux de Wardin H et al.

Jco Precision Oncology, 2024

Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions.

Schöpf J et al.

Nature Communications, 2024

An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis: report of a new paediatric case and a review of the literature.

Pellegrino F et al.

Frontiers in Oncology, 2024

Sequential genomic analysis using a multisample/multiplatform approach to better define rhabdomyosarcoma progression and relapse.

de Traux de Wardin H et al.

Npj Precision Oncology, 2023

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

First Reported Case of Malignant Ectomesenchymoma with p.Leu122Arg Mutation in MYOD1 Gene: Extensive Intra- and Extracranial Tumor in a 15-Year-Old Female.

Pena-Burgos EM et al.

Head and Neck Pathology, 2023

Biphenotypic Sinonasal Sarcoma with a Novel PAX7::PPARGC1 Fusion: Expanding the Spectrum of Gene Fusions Beyond the PAX3 Gene.

Bhele S et al.

Head and Neck Pathology, 2023

Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma.

Dehner CA et al.

Jco Precision Oncology, 2023

Intraosseous Spindle Cell/Epithelioid Rhabdomyosarcoma with TFCP2 Rearrangement: A Recent Recognized Subtype with Partial Response to Alectinib.

Valério E et al.

International Journal of Surgical Pathology, 2023

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Biological Role and Clinical Implications of MYOD1L122R Mutation in Rhabdomyosarcoma.

Di Carlo D et al.

Cancers, 2023

Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion.

Rakheja D et al.

International Journal of Surgical Pathology, 2022

Molecular testing of rhabdomyosarcoma in clinical trials to improve risk stratification and outcome: A consensus view from European paediatric Soft tissue sarcoma Study Group, Children's Oncology Group and Cooperative Weichteilsarkom-Studiengruppe.

Hettmer S et al.

European Journal of Cancer (oxford, England : 1990), 2022

Exon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcoma.

Butler E et al.

Cold Spring Harbor Molecular Case Studies, 2022

Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications.

Fung CK et al.

Virchows Archiv : an International Journal of Pathology, 2022

Corrigendum: Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.

Choo F et al.

Cold Spring Harbor Molecular Case Studies, 2022

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.

Ohkawa T et al.

Journal of Human Genetics, 2022

Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.

Choo F et al.

Cold Spring Harbor Molecular Case Studies, 2022

Methylation profiling reveals novel molecular classes of rhabdomyosarcoma.

Clay MR et al.

Scientific Reports, 2021

Deciphering the Genomic Landscape and Pharmacological Profile of Uncommon Entities of Adult Rhabdomyosarcomas.

De Vita A et al.

International Journal of Molecular Sciences, 2021

Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.

Shern JF et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2021

Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.

Ting MA et al.

The Journal of Pathology, 2021

Establishment and characterization of NCC-ssRMS2-C1: a novel patient-derived cell line of spindle cell/sclerosing rhabdomyosarcoma.

Tsuchiya R et al.

Human Cell, 2021

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

Ichikawa D et al.

Npj Genomic Medicine, 2021

An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation.

Miyama Y et al.

Pathology International, 2021

Establishment and Characterization of a Sclerosing Spindle Cell Rhabdomyosarcoma Cell Line with a Complex Genomic Profile.

Schleicher S et al.

Cells, 2020

H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

Lyskjaer I et al.

The Journal of Pathology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."