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Fusion-Negative Rhabdomyosarcoma

MedGen UID:
882620
•Concept ID:
C4054913
•
Neoplastic Process

Definition

A rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFusion-Negative Rhabdomyosarcoma

Professional guidelines

PubMed

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ
JAMA Netw Open 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. PMID: 38546643Free PMC Article

Recent clinical studies

Etiology

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ
JAMA Netw Open 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. PMID: 38546643Free PMC Article
Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma.
Dehner CA, Bell RC, Cao Y, He K, Chrisinger JSA, Armstrong AE, Yohe M, Shern J, Hirbe AC
JCO Precis Oncol 2023 Sep;7:e2300037. doi: 10.1200/PO.23.00037. PMID: 37738543Free PMC Article
Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Abbou S, Klega K, Tsuji J, Tanhaemami M, Hall D, Barkauskas DA, Krailo MD, Cibulskis C, Nag A, Thorner AR, Pollock S, Imamovic-Tuco A, Shern JF, DuBois SG, Venkatramani R, Hawkins DS, Crompton BD
J Clin Oncol 2023 May 1;41(13):2382-2393. Epub 2023 Feb 1 doi: 10.1200/JCO.22.00409. PMID: 36724417Free PMC Article
Identification and targeting of a HES1-YAP1-CDKN1C functional interaction in fusion-negative rhabdomyosarcoma.
Kovach AR, Oristian KM, Kirsch DG, Bentley RC, Cheng C, Chen X, Chen PH, Chi JA, Linardic CM
Mol Oncol 2022 Oct;16(20):3587-3605. Epub 2022 Aug 29 doi: 10.1002/1878-0261.13304. PMID: 36037042Free PMC Article
An Integrative Morphologic and Molecular Approach for Diagnosis and Subclassification of Rhabdomyosarcoma.
Fan R, Parham DM, Wang LL
Arch Pathol Lab Med 2022 Aug 1;146(8):953-959. doi: 10.5858/arpa.2021-0183-RA. PMID: 35051261

Diagnosis

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ
JAMA Netw Open 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. PMID: 38546643Free PMC Article
Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma.
Dehner CA, Bell RC, Cao Y, He K, Chrisinger JSA, Armstrong AE, Yohe M, Shern J, Hirbe AC
JCO Precis Oncol 2023 Sep;7:e2300037. doi: 10.1200/PO.23.00037. PMID: 37738543Free PMC Article
Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Abbou S, Klega K, Tsuji J, Tanhaemami M, Hall D, Barkauskas DA, Krailo MD, Cibulskis C, Nag A, Thorner AR, Pollock S, Imamovic-Tuco A, Shern JF, DuBois SG, Venkatramani R, Hawkins DS, Crompton BD
J Clin Oncol 2023 May 1;41(13):2382-2393. Epub 2023 Feb 1 doi: 10.1200/JCO.22.00409. PMID: 36724417Free PMC Article
Targeting farnesylation as a novel therapeutic approach in HRAS-mutant rhabdomyosarcoma.
Odeniyide P, Yohe ME, Pollard K, Vaseva AV, Calizo A, Zhang L, Rodriguez FJ, Gross JM, Allen AN, Wan X, Somwar R, Schreck KC, Kessler L, Wang J, Pratilas CA
Oncogene 2022 May;41(21):2973-2983. Epub 2022 Apr 22 doi: 10.1038/s41388-022-02305-x. PMID: 35459782Free PMC Article
An Integrative Morphologic and Molecular Approach for Diagnosis and Subclassification of Rhabdomyosarcoma.
Fan R, Parham DM, Wang LL
Arch Pathol Lab Med 2022 Aug 1;146(8):953-959. doi: 10.5858/arpa.2021-0183-RA. PMID: 35051261

Therapy

Fusion-negative rhabdomyosarcoma 3D organoids to predict effective drug combinations: A proof-of-concept on cell death inducers.
Savary C, Luciana L, Huchedé P, Tourbez A, Coquet C, Broustal M, Lopez Gonzalez A, Deligne C, Diot T, Naret O, Costa M, Meynard N, Barbet V, Müller K, Tonon L, Gadot N, Degletagne C, Attignon V, Léon S, Vanbelle C, Bomane A, Rochet I, Mournetas V, Oliveira L, Rinaudo P, Bergeron C, Dutour A, Cordier-Bussat M, Roch A, Brandenberg N, El Zein S, Watson S, Orbach D, Delattre O, Dijoud F, Corradini N, Picard C, Maucort-Boulch D, Le Grand M, Pasquier E, Blay JY, Castets M, Broutier L
Cell Rep Med 2023 Dec 19;4(12):101339. doi: 10.1016/j.xcrm.2023.101339. PMID: 38118405Free PMC Article
The Combination of Trametinib and Ganitumab is Effective in RAS-Mutated PAX-Fusion Negative Rhabdomyosarcoma Models.
Hebron KE, Wan X, Roth JS, Liewehr DJ, Sealover NE, Frye WJE, Kim A, Stauffer S, Perkins OL, Sun W, Isanogle KA, Robinson CM, James A, Awasthi P, Shankarappa P, Luo X, Lei H, Butcher D, Smith R, Edmondson EF, Chen JQ, Kedei N, Peer CJ, Shern JF, Figg WD, Chen L, Hall MD, Difilippantonio S, Barr FG, Kortum RL, Robey RW, Vaseva AV, Khan J, Yohe ME
Clin Cancer Res 2023 Jan 17;29(2):472-487. doi: 10.1158/1078-0432.CCR-22-1646. PMID: 36322002Free PMC Article
Fusion-negative rhabdomyosarcoma with diffuse bony metastases and remarkable chemosensitivity.
Kube P, Parisio K, Mangum DS, Powell J
BMJ Case Rep 2022 Aug 29;15(8) doi: 10.1136/bcr-2022-250236. PMID: 36038153Free PMC Article

Prognosis

Tongue orthotopic xenografts to study fusion-negative rhabdomyosarcoma invasion and metastasis in live animals.
Hammoudeh SM, Ng Y, Wei BR, Madsen TD, Yadav MP, Simpson RM, Weigert R, Randazzo PA
Cell Rep Methods 2024 Jul 15;4(7):100802. Epub 2024 Jul 3 doi: 10.1016/j.crmeth.2024.100802. PMID: 38964316Free PMC Article
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ
JAMA Netw Open 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. PMID: 38546643Free PMC Article
Fusion-negative rhabdomyosarcoma 3D organoids to predict effective drug combinations: A proof-of-concept on cell death inducers.
Savary C, Luciana L, Huchedé P, Tourbez A, Coquet C, Broustal M, Lopez Gonzalez A, Deligne C, Diot T, Naret O, Costa M, Meynard N, Barbet V, Müller K, Tonon L, Gadot N, Degletagne C, Attignon V, Léon S, Vanbelle C, Bomane A, Rochet I, Mournetas V, Oliveira L, Rinaudo P, Bergeron C, Dutour A, Cordier-Bussat M, Roch A, Brandenberg N, El Zein S, Watson S, Orbach D, Delattre O, Dijoud F, Corradini N, Picard C, Maucort-Boulch D, Le Grand M, Pasquier E, Blay JY, Castets M, Broutier L
Cell Rep Med 2023 Dec 19;4(12):101339. doi: 10.1016/j.xcrm.2023.101339. PMID: 38118405Free PMC Article
Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma.
Dehner CA, Bell RC, Cao Y, He K, Chrisinger JSA, Armstrong AE, Yohe M, Shern J, Hirbe AC
JCO Precis Oncol 2023 Sep;7:e2300037. doi: 10.1200/PO.23.00037. PMID: 37738543Free PMC Article
Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Abbou S, Klega K, Tsuji J, Tanhaemami M, Hall D, Barkauskas DA, Krailo MD, Cibulskis C, Nag A, Thorner AR, Pollock S, Imamovic-Tuco A, Shern JF, DuBois SG, Venkatramani R, Hawkins DS, Crompton BD
J Clin Oncol 2023 May 1;41(13):2382-2393. Epub 2023 Feb 1 doi: 10.1200/JCO.22.00409. PMID: 36724417Free PMC Article

Clinical prediction guides

Fusion-negative rhabdomyosarcoma 3D organoids to predict effective drug combinations: A proof-of-concept on cell death inducers.
Savary C, Luciana L, Huchedé P, Tourbez A, Coquet C, Broustal M, Lopez Gonzalez A, Deligne C, Diot T, Naret O, Costa M, Meynard N, Barbet V, Müller K, Tonon L, Gadot N, Degletagne C, Attignon V, Léon S, Vanbelle C, Bomane A, Rochet I, Mournetas V, Oliveira L, Rinaudo P, Bergeron C, Dutour A, Cordier-Bussat M, Roch A, Brandenberg N, El Zein S, Watson S, Orbach D, Delattre O, Dijoud F, Corradini N, Picard C, Maucort-Boulch D, Le Grand M, Pasquier E, Blay JY, Castets M, Broutier L
Cell Rep Med 2023 Dec 19;4(12):101339. doi: 10.1016/j.xcrm.2023.101339. PMID: 38118405Free PMC Article
The Combination of Trametinib and Ganitumab is Effective in RAS-Mutated PAX-Fusion Negative Rhabdomyosarcoma Models.
Hebron KE, Wan X, Roth JS, Liewehr DJ, Sealover NE, Frye WJE, Kim A, Stauffer S, Perkins OL, Sun W, Isanogle KA, Robinson CM, James A, Awasthi P, Shankarappa P, Luo X, Lei H, Butcher D, Smith R, Edmondson EF, Chen JQ, Kedei N, Peer CJ, Shern JF, Figg WD, Chen L, Hall MD, Difilippantonio S, Barr FG, Kortum RL, Robey RW, Vaseva AV, Khan J, Yohe ME
Clin Cancer Res 2023 Jan 17;29(2):472-487. doi: 10.1158/1078-0432.CCR-22-1646. PMID: 36322002Free PMC Article
Sensitization to Ionizing Radiation by MEK Inhibition Is Dependent on SNAI2 in Fusion-Negative Rhabdomyosarcoma.
Hensch NR, Bondra K, Wang L, Sreenivas P, Zhao XR, Modi P, Vaseva AV, Houghton PJ, Ignatius MS
Mol Cancer Ther 2023 Jan 3;22(1):123-134. doi: 10.1158/1535-7163.MCT-22-0310. PMID: 36162055Free PMC Article
Syndecan-4 affects myogenesis via Rac1-mediated actin remodeling and exhibits copy-number amplification and increased expression in human rhabdomyosarcoma tumors.
Szabo K, Varga D, Vegh AG, Liu N, Xiao X, Xu L, Dux L, Erdelyi M, Rovo L, Keller-Pinter A
Cell Mol Life Sci 2022 Feb 7;79(2):122. doi: 10.1007/s00018-021-04121-0. PMID: 35128576Free PMC Article
Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies.
Azorsa DO, Bode PK, Wachtel M, Cheuk ATC, Meltzer PS, Vokuhl C, Camenisch U, Khov HL, Bode B, Schäfer BW, Khan J
Mod Pathol 2021 Apr;34(4):748-757. Epub 2020 Dec 9 doi: 10.1038/s41379-020-00719-0. PMID: 33299109Free PMC Article

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