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Fusion-Positive Alveolar Rhabdomyosarcoma

MedGen UID:
883352
•Concept ID:
C4054912
•
Neoplastic Process

Definition

An alveolar 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. Approximately 80% of alveolar rhabdomyosarcomas are fusion-positive. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFusion-Positive Alveolar Rhabdomyosarcoma

Professional guidelines

PubMed

NY-ESO-1 expression in synovial sarcoma and other mesenchymal tumors: significance for NY-ESO-1-based targeted therapy and differential diagnosis.
Lai JP, Robbins PF, Raffeld M, Aung PP, Tsokos M, Rosenberg SA, Miettinen MM, Lee CC
Mod Pathol 2012 Jun;25(6):854-8. Epub 2012 Mar 2 doi: 10.1038/modpathol.2012.31. PMID: 22388761Free PMC Article

Recent clinical studies

Etiology

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
Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
Classification of rhabdomyosarcoma and its molecular basis.
Parham DM, Barr FG
Adv Anat Pathol 2013 Nov;20(6):387-97. doi: 10.1097/PAP.0b013e3182a92d0d. PMID: 24113309Free PMC Article
Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
Williamson D, Missiaglia E, de Reyniès A, Pierron G, Thuille B, Palenzuela G, Thway K, Orbach D, Laé M, Fréneaux P, Pritchard-Jones K, Oberlin O, Shipley J, Delattre O
J Clin Oncol 2010 May 1;28(13):2151-8. Epub 2010 Mar 29 doi: 10.1200/JCO.2009.26.3814. PMID: 20351326

Diagnosis

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
Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
Gene Fusions in Ocular Adnexal Tumors.
Milman T, Ida CM, Zhang PJL, Eagle RC Jr
Am J Ophthalmol 2021 Jan;221:211-225. Epub 2020 Aug 13 doi: 10.1016/j.ajo.2020.08.012. PMID: 32800827
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
Classification of rhabdomyosarcoma and its molecular basis.
Parham DM, Barr FG
Adv Anat Pathol 2013 Nov;20(6):387-97. doi: 10.1097/PAP.0b013e3182a92d0d. PMID: 24113309Free PMC Article

Therapy

Targeting KDM4 for treating PAX3-FOXO1-driven alveolar rhabdomyosarcoma.
Singh S, Abu-Zaid A, Jin H, Fang J, Wu Q, Wang T, Feng H, Quarni W, Shao Y, Maxham L, Abdolvahabi A, Yun MK, Vaithiyalingam S, Tan H, Bowling J, Honnell V, Young B, Guo Y, Bajpai R, Pruett-Miller SM, Grosveld GC, Hatley M, Xu B, Fan Y, Wu G, Chen EY, Chen T, Lewis PW, Rankovic Z, Li Y, Murphy AJ, Easton J, Peng J, Chen X, Wang R, White SW, Davidoff AM, Yang J
Sci Transl Med 2022 Jul 13;14(653):eabq2096. doi: 10.1126/scitranslmed.abq2096. PMID: 35857643Free PMC Article
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
Aurora A Kinase Inhibition Destabilizes PAX3-FOXO1 and MYCN and Synergizes with Navitoclax to Induce Rhabdomyosarcoma Cell Death.
Ommer J, Selfe JL, Wachtel M, O'Brien EM, Laubscher D, Roemmele M, Kasper S, Delattre O, Surdez D, Petts G, Kelsey A, Shipley J, Schäfer BW
Cancer Res 2020 Feb 15;80(4):832-842. Epub 2019 Dec 30 doi: 10.1158/0008-5472.CAN-19-1479. PMID: 31888889
Fusion status in patients with lymph node-positive (N1) alveolar rhabdomyosarcoma is a powerful predictor of prognosis: Experience of the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG).
Gallego S, Zanetti I, Orbach D, Ranchère D, Shipley J, Zin A, Bergeron C, de Salvo GL, Chisholm J, Ferrari A, Jenney M, Mandeville HC, Rogers T, Merks JHM, Mudry P, Glosli H, Milano GM, Ferman S, Bisogno G; European Paediatric Soft Tissue Sarcoma Study Group (EpSSG)
Cancer 2018 Aug 1;124(15):3201-3209. Epub 2018 May 24 doi: 10.1002/cncr.31553. PMID: 29797665
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

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
Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
Gene Fusions in Ocular Adnexal Tumors.
Milman T, Ida CM, Zhang PJL, Eagle RC Jr
Am J Ophthalmol 2021 Jan;221:211-225. Epub 2020 Aug 13 doi: 10.1016/j.ajo.2020.08.012. PMID: 32800827
Uncovering metabolism in rhabdomyosarcoma.
Monti E, Fanzani A
Cell Cycle 2016;15(2):184-95. doi: 10.1080/15384101.2015.1071746. PMID: 26209235Free PMC Article
Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis.
Kubo T, Shimose S, Fujimori J, Furuta T, Ochi M
Crit Rev Oncol Hematol 2015 Oct;96(1):46-53. Epub 2015 May 14 doi: 10.1016/j.critrevonc.2015.04.012. PMID: 26008753

Clinical prediction guides

Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.
Shern JF, Selfe J, Izquierdo E, Patidar R, Chou HC, Song YK, Yohe ME, Sindiri S, Wei J, Wen X, Rudzinski ER, Barkauskas DA, Lo T, Hall D, Linardic CM, Hughes D, Jamal S, Jenney M, Chisholm J, Brown R, Jones K, Hicks B, Angelini P, George S, Chesler L, Hubank M, Kelsey A, Gatz SA, Skapek SX, Hawkins DS, Shipley JM, Khan J
J Clin Oncol 2021 Sep 10;39(26):2859-2871. Epub 2021 Jun 24 doi: 10.1200/JCO.20.03060. PMID: 34166060Free PMC Article
MUC4 is expressed in alveolar rhabdomyosarcoma.
Forgó E, Hornick JL, Charville GW
Histopathology 2021 May;78(6):905-908. Epub 2021 Mar 16 doi: 10.1111/his.14321. PMID: 33368602Free PMC Article
Uncovering metabolism in rhabdomyosarcoma.
Monti E, Fanzani A
Cell Cycle 2016;15(2):184-95. doi: 10.1080/15384101.2015.1071746. PMID: 26209235Free PMC Article
Classification of rhabdomyosarcoma and its molecular basis.
Parham DM, Barr FG
Adv Anat Pathol 2013 Nov;20(6):387-97. doi: 10.1097/PAP.0b013e3182a92d0d. PMID: 24113309Free PMC Article
Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
Williamson D, Missiaglia E, de Reyniès A, Pierron G, Thuille B, Palenzuela G, Thway K, Orbach D, Laé M, Fréneaux P, Pritchard-Jones K, Oberlin O, Shipley J, Delattre O
J Clin Oncol 2010 May 1;28(13):2151-8. Epub 2010 Mar 29 doi: 10.1200/JCO.2009.26.3814. PMID: 20351326

Recent systematic reviews

Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis.
Kubo T, Shimose S, Fujimori J, Furuta T, Ochi M
Crit Rev Oncol Hematol 2015 Oct;96(1):46-53. Epub 2015 May 14 doi: 10.1016/j.critrevonc.2015.04.012. PMID: 26008753

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