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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

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

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
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
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
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
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

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
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
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
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
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

Therapy

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
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
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

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
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
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
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
Teot LA, Schneider M, Thorner AR, Tian J, Chi YY, Ducar M, Lin L, Wlodarski M, Grier HE, Fletcher CDM, van Hummelen P, Skapek SX, Hawkins DS, Wagers AJ, Rodriguez-Galindo C, Hettmer S
Cancer 2018 May 1;124(9):1973-1981. Epub 2018 Feb 20 doi: 10.1002/cncr.31286. PMID: 29461635Free PMC Article

Clinical prediction guides

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
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
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
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
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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