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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, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G
Pediatr Blood Cancer 2025 Mar;72(3):e31476. Epub 2024 Dec 10 doi: 10.1002/pbc.31476. PMID: 39655886

Recent clinical studies

Etiology

Heinz AT, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G
Pediatr Blood Cancer 2025 Mar;72(3):e31476. Epub 2024 Dec 10 doi: 10.1002/pbc.31476. PMID: 39655886

Diagnosis

Heinz AT, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G
Pediatr Blood Cancer 2025 Mar;72(3):e31476. Epub 2024 Dec 10 doi: 10.1002/pbc.31476. PMID: 39655886
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

Therapy

Heinz AT, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G
Pediatr Blood Cancer 2025 Mar;72(3):e31476. Epub 2024 Dec 10 doi: 10.1002/pbc.31476. PMID: 39655886

Prognosis

Heinz AT, Ciuffolotti M, Merks JHM, Schönstein A, Minard-Colin V, Fuchs J, Guillen G, Timmermann B, Vokuhl C, Koscielniak E, Chisholm JC, Sparber-Sauer M, Bisogno G
Pediatr Blood Cancer 2025 Mar;72(3):e31476. Epub 2024 Dec 10 doi: 10.1002/pbc.31476. PMID: 39655886
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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