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Fusion-Negative Alveolar Rhabdomyosarcoma

MedGen UID:
891539
•Concept ID:
C4054914
•
Neoplastic Process

Definition

An alveolar 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 Alveolar Rhabdomyosarcoma

Professional guidelines

PubMed

Significance of fusion status, Oberlin risk factors, local and maintenance treatment in pediatric and adolescent patients with metastatic rhabdomyosarcoma: Data of the European Soft Tissue Sarcoma Registry SoTiSaR.
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

Recent clinical studies

Etiology

Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.
Rudzinski ER, Teot LA, Anderson JR, Moore J, Bridge JA, Barr FG, Gastier-Foster JM, Skapek SX, Hawkins DS, Parham DM
Am J Clin Pathol 2013 Jul;140(1):82-90. doi: 10.1309/AJCPA1WN7ARPCMKQ. PMID: 23765537Free PMC Article

Diagnosis

PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.
Ohkawa T, Nishimura A, Kosaki K, Aoki-Nogami Y, Tomizawa D, Kashimada K, Morio T, Kato M, Mizutani S, Takagi M
J Hum Genet 2022 Jan;67(1):51-54. Epub 2021 Aug 2 doi: 10.1038/s10038-021-00965-3. PMID: 34341476
Refractory alveolar rhabdomyosarcoma in an 11-year-old male.
Ricker CA, Woods AD, Simonson W, Lathara M, Srinivasa G, Rudzinski ER, Mansoor A, Irwin RG, Keller C, Berlow NE
Cold Spring Harb Mol Case Stud 2021 Feb;7(1) Epub 2021 Feb 19 doi: 10.1101/mcs.a005983. PMID: 33436392Free PMC Article
Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.
Rudzinski ER, Teot LA, Anderson JR, Moore J, Bridge JA, Barr FG, Gastier-Foster JM, Skapek SX, Hawkins DS, Parham DM
Am J Clin Pathol 2013 Jul;140(1):82-90. doi: 10.1309/AJCPA1WN7ARPCMKQ. PMID: 23765537Free PMC Article
Merkel cell carcinoma with heterologous rhabdomyoblastic differentiation: the role of immunohistochemistry for Merkel cell polyomavirus large T-antigen in confirmation.
Adhikari LA, McCalmont TH, Folpe AL
J Cutan Pathol 2012 Jan;39(1):47-51. Epub 2011 Oct 28 doi: 10.1111/j.1600-0560.2011.01794.x. PMID: 22032237

Therapy

Refractory alveolar rhabdomyosarcoma in an 11-year-old male.
Ricker CA, Woods AD, Simonson W, Lathara M, Srinivasa G, Rudzinski ER, Mansoor A, Irwin RG, Keller C, Berlow NE
Cold Spring Harb Mol Case Stud 2021 Feb;7(1) Epub 2021 Feb 19 doi: 10.1101/mcs.a005983. PMID: 33436392Free PMC Article

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