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Fusion-Positive Rhabdomyosarcoma

MedGen UID:
883938
•Concept ID:
C4054911
•
Neoplastic Process

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFusion-Positive 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
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
Combinatorial strategies to potentiate the efficacy of HDAC inhibitors in fusion-positive sarcomas.
Lanzi C, Cassinelli G
Biochem Pharmacol 2022 Apr;198:114944. Epub 2022 Feb 7 doi: 10.1016/j.bcp.2022.114944. PMID: 35152144
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
Genetic Characterization, Current Model Systems and Prognostic Stratification in PAX Fusion-Negative vs. PAX Fusion-Positive Rhabdomyosarcoma.
Dehner CA, Armstrong AE, Yohe M, Shern JF, Hirbe AC
Genes (Basel) 2021 Sep 25;12(10) doi: 10.3390/genes12101500. PMID: 34680895Free PMC Article

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
A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.
Freycon C, Lupo PJ, Witkowski L, Budd C, Foulkes WD, Goudie C
Pediatr Blood Cancer 2023 Nov;70(11):e30651. Epub 2023 Aug 28 doi: 10.1002/pbc.30651. PMID: 37638828
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
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
CDK4 Amplification Reduces Sensitivity to CDK4/6 Inhibition in Fusion-Positive Rhabdomyosarcoma.
Olanich ME, Sun W, Hewitt SM, Abdullaev Z, Pack SD, Barr FG
Clin Cancer Res 2015 Nov 1;21(21):4947-59. Epub 2015 Mar 25 doi: 10.1158/1078-0432.CCR-14-2955. PMID: 25810375Free PMC Article

Therapy

Combinatorial strategies to potentiate the efficacy of HDAC inhibitors in fusion-positive sarcomas.
Lanzi C, Cassinelli G
Biochem Pharmacol 2022 Apr;198:114944. Epub 2022 Feb 7 doi: 10.1016/j.bcp.2022.114944. PMID: 35152144
Survival outcomes of patients with localized FOXO1 fusion-positive rhabdomyosarcoma treated on recent clinical trials: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.
Heske CM, Chi YY, Venkatramani R, Li M, Arnold MA, Dasgupta R, Hiniker SM, Hawkins DS, Mascarenhas L
Cancer 2021 Mar 15;127(6):946-956. Epub 2020 Nov 20 doi: 10.1002/cncr.33334. PMID: 33216382Free PMC Article
PAX3-FOXO1 Establishes Myogenic Super Enhancers and Confers BET Bromodomain Vulnerability.
Gryder BE, Yohe ME, Chou HC, Zhang X, Marques J, Wachtel M, Schaefer B, Sen N, Song Y, Gualtieri A, Pomella S, Rota R, Cleveland A, Wen X, Sindiri S, Wei JS, Barr FG, Das S, Andresson T, Guha R, Lal-Nag M, Ferrer M, Shern JF, Zhao K, Thomas CJ, Khan J
Cancer Discov 2017 Aug;7(8):884-899. Epub 2017 Apr 26 doi: 10.1158/2159-8290.CD-16-1297. PMID: 28446439Free PMC Article

Prognosis

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
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
Genetic Characterization, Current Model Systems and Prognostic Stratification in PAX Fusion-Negative vs. PAX Fusion-Positive Rhabdomyosarcoma.
Dehner CA, Armstrong AE, Yohe M, Shern JF, Hirbe AC
Genes (Basel) 2021 Sep 25;12(10) doi: 10.3390/genes12101500. PMID: 34680895Free PMC Article
High Frequency of Tumor Propagating Cells in Fusion-Positive Rhabdomyosarcoma.
Generali M, Satheesha S, Bode PK, Wanner D, Schäfer BW, Casanova EA
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091373. PMID: 34573355Free PMC Article
FOXF1 is required for the oncogenic properties of PAX3-FOXO1 in rhabdomyosarcoma.
Milewski D, Shukla S, Gryder BE, Pradhan A, Donovan J, Sudha P, Vallabh S, Pyros A, Xu Y, Barski A, Szabo S, Turpin B, Pressey JG, Millay DP, Khan J, Kalinichenko VV, Kalin TV
Oncogene 2021 Mar;40(12):2182-2199. Epub 2021 Feb 24 doi: 10.1038/s41388-021-01694-9. PMID: 33627785Free PMC Article

Clinical prediction guides

Plasma-derived extracellular vesicles miR-335-5p as potential diagnostic biomarkers for fusion-positive rhabdomyosarcoma.
Di Paolo V, Paolini A, Galardi A, Gasparini P, De Cecco L, Colletti M, Lampis S, Raieli S, De Stefanis C, Miele E, Russo I, Di Ruscio V, Casanova M, Alaggio R, Masotti A, Milano GM, Locatelli F, Di Giannatale A
J Exp Clin Cancer Res 2024 Oct 9;43(1):282. doi: 10.1186/s13046-024-03197-3. PMID: 39385294Free PMC Article
CDK4 Amplification Reduces Sensitivity to CDK4/6 Inhibition in Fusion-Positive Rhabdomyosarcoma.
Olanich ME, Sun W, Hewitt SM, Abdullaev Z, Pack SD, Barr FG
Clin Cancer Res 2015 Nov 1;21(21):4947-59. Epub 2015 Mar 25 doi: 10.1158/1078-0432.CCR-14-2955. PMID: 25810375Free PMC Article

Recent systematic reviews

A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.
Freycon C, Lupo PJ, Witkowski L, Budd C, Foulkes WD, Goudie C
Pediatr Blood Cancer 2023 Nov;70(11):e30651. Epub 2023 Aug 28 doi: 10.1002/pbc.30651. PMID: 37638828

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