Angiomyofibroblastoma

Soft Tissue and Bone Tumours (Who Classification, 5th ed.)

Primary Author(s)*

Kathleen Schieffer, PhD, FACMG

WHO Classification of Disease

Structure	Disease
Book	Soft Tissue and Bone Tumours (5th ed.)
Category	Soft tissue tumours
Family	Fibroblastic and myofibroblastic tumours
Type	Angiomyofibroblastoma
Subtype(s)	N/A

Related Terminology

Acceptable	N/A
Not Recommended	N/A

Gene Rearrangements

Driver Gene	Fusion(s) and Common Partner Genes	Molecular Pathogenesis	Typical Chromosomal Alteration(s)	Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
CYP2E1	MTG1	In-frame fusion that results in aberrant expression of CYP2E1 under the control of the MTG1 promoter. Breakpoints are typically reported in exon 9 of MTG1 (NM_138384.4) to the 5' regulatory region of CYP2E1 (NG_055447.1)	None	Recurrent	D	No	Although only relatively few cases have been studied, a recurrent fusion between MTG1::CYP2E1 has been described in the majority of cases.

Individual Region Genomic Gain/Loss/LOH

None

Chr #	Gain, Loss, Amp, LOH	Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]	Relevant Gene(s)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A	N/A	N/A	N/A	N/A	N/A	N/A

Characteristic Chromosomal or Other Global Mutational Patterns

None

Chromosomal Pattern	Molecular Pathogenesis	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A	N/A	N/A	N/A	N/A	N/A

Gene Mutations (SNV/INDEL)

None

Gene	Genetic Alteration	Tumor Suppressor Gene, Oncogene, Other	Prevalence - Common >20%, Recurrent 5-20% or Rare <5% (Disease)	Diagnostic, Prognostic, and Therapeutic Significance - D, P, T	Established Clinical Significance Per Guidelines - Yes or No (Source)	Clinical Relevance Details/Other Notes
N/A	N/A	N/A	N/A	N/A	N/A	N/A

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

None

Genes and Main Pathways Involved

None

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
N/A	N/A	N/A

Genetic Diagnostic Testing Methods

1. Fusion testing
   • Targeted sequencing (such as RT-PCR or targeted next-generation sequencing (NGS) panels)
     • For targeted NGS panels, consider if the assay requires both gene partners to be included on the panel or if it is able to identify novel fusions as long as one of the partners is included on the panel
   • Whole transcriptome RNA-sequencing
     • Provides an unbiased approach to fusion calling

Familial Forms

Not applicable

Additional Information

None

Links

None

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s): *Citation of this Page: “Angiomyofibroblastoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 10/21/2025, https://ccga.io/index.php/STBT5:Angiomyofibroblastoma.