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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

Heinz AT, Schönstein A, Ebinger M, Fuchs J, Timmermann B, Seitz G, Vokuhl C, Münter M, Pajtler KW, Stegmaier S, von Kalle T, Kratz CP, Ljungman G, Juntti H, Klingebiel T, Koscielniak E, Sparber-Sauer M; Cooperative Weichteilsarkom Studiengruppe
Pediatr Blood Cancer 2024 Jan;71(1):e30707. Epub 2023 Oct 9 doi: 10.1002/pbc.30707. PMID: 37814424
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

Diagnosis

Crawford KA, Berlow NE, Tsay J, Lazich M, Mancini M, Noakes C, Huang T, Keller C
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a004853. PMID: 32532875Free PMC Article

Prognosis

Crawford KA, Berlow NE, Tsay J, Lazich M, Mancini M, Noakes C, Huang T, Keller C
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a004853. PMID: 32532875Free PMC Article

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