Compendium of Cancer Genome Aberrations

Pleomorphic hyalinizing angiectatic tumour of soft parts

This is a checked version, approved on 7 January 2026. New changes may have been made.

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

Primary Author(s)*

Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD

WHO Classification of Disease

Structure Disease
Book Soft Tissue and Bone Tumors (5th ed.)
Category Soft tissue tumors
Family Tumours of uncertain differentiation
Type Pleomorphic hyalinizing angiectatic tumor of soft parts
Subtype(s) N/A

Related Terminology

Acceptable N/A
Not Recommended N/A

Gene Rearrangements

Pleomorphic hyalinizing angiectatic tumor (PHAT), which is genetically similar to myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT), is characterized by a recurrent t(1;10)(p22;q24) translocation.[1][2][3] Fluorescence in situ hybridization (FISH) studies have identified a rearrangement of TGFBR3 on chromosome 1p22 and OGA (previously known as and commonly reported in the literature as MGEA5) on chromosome 10q24 in a subset of cases.[1][2][3][4][5] However, a subsequent study using targeted RNA-sequencing in a case of PHAT identified FBXW4, as the fusion partner for TGFBR3. Close proximity of FBXW4 and OGA (MGEA5) at 10q24 may have led to initial misidentification with FISH.[6]

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
TGFBR3


OGA (MGEA5)[1][2][3][4][5][7]


FBXW4[6]

The unbalanced t(1;10) juxtaposes TGFBR3 with a region within or near OGA (MGEA5) on 10q24.[1][2][3] A single study using RNA-sequencing identified FBXW4, located adjacent to OGA (MGEA5) on 10q24 as a fusion partner.[6] The FBXW4::TGFBR3 fusion had breakpoints in exon 6 of FBXW4 (NM_022039.3) and exon 14 of TGFBR3 (NM_003243.4), resulting in an out-of-frame product.[6]


The translocation is associated with upregulation of genes like FGF8, potentially via a position effect.[2]

der(10)t(1;10)(p22;q24)[1][2][3] N/A D Yes (WHO) The t(1;10) with TGFBR3 rearrangement is a recurrent genetic event in PHAT and can be a useful diagnostic marker, particularly in challenging cases.[1][2][4][5]

Individual Region Genomic Gain/Loss/LOH

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

Cytogenetic analysis of cultured lesional tissue identified a mosaic karyotype.[8] The predominant cell line was characterized by an abnormal chromosome count of 45 and contained unbalanced translocations: a derivative chromosome 1 from a t(1;3) and a derivative chromosome 10 from a t(1;10). This was accompanied by the loss of one chromosome 3.

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
Complex Karyotype Associated with the t(1;10) translocation; often includes other abnormalities including deletions or rearrangements involving chromosomes 1 and 3.[1][2][3][8] N/A Unknown No The karyotype is often complex in addition to the t(1;10).

Gene Mutations (SNV/INDEL)

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

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
TGFBR3; Rearrangement (with FBXW4 or OGA (MGEA5)) Growth Factor Signaling   Potential upregulation of pro-proliferative signals contributing to tumorigenesis

Genetic Diagnostic Testing Methods

1. Fluorescence in situ hybridization (FISH)  

- Break apart probes for TGFBR3 on 1p22 is a method to detect the rearrangement in PHAT

- In cases with atypical features, FISH can serve as a diagnostic tool


2. Targeted RNA-sequencing  

- Can provide a more precise identification of fusion partners involved in the t(1;10) translocation

Familial Forms

No familial syndromes or hereditary conditions are currently known to be associated with pleomorphic hyalinizing angiectatic tumor.

Additional Information

None

Links

None

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Antonescu, Cristina R.; et al. (2011-10). "Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor". Genes, Chromosomes & Cancer. 50 (10): 757–764. doi:10.1002/gcc.20897. ISSN 1098-2264. PMC 3361892. PMID 21717526. Check date values in: |date= (help)
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Hallor, Karolin H.; et al. (2009-04). "Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions". The Journal of Pathology. 217 (5): 716–727. doi:10.1002/path.2513. ISSN 1096-9896. PMID 19199331. Check date values in: |date= (help)
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Liu, Huifei; et al. (2019-02). "The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor". Archives of Pathology & Laboratory Medicine. 143 (2): 212–221. doi:10.5858/arpa.2017-0412-RA. ISSN 1543-2165. PMID 29979612. Check date values in: |date= (help)
  4. ↑ 4.0 4.1 4.2 Carter, Jodi M.; et al. (2014-09). "TGFBR3 and MGEA5 rearrangements in pleomorphic hyalinizing angiectatic tumors and the spectrum of related neoplasms". The American Journal of Surgical Pathology. 38 (9): 1182–1992. doi:10.1097/PAS.0000000000000212. ISSN 1532-0979. PMID 24705316. Check date values in: |date= (help)
  5. ↑ 5.0 5.1 5.2 Zreik, Riyam T.; et al. (2016-07). "TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study". Human Pathology. 53: 14–24. doi:10.1016/j.humpath.2016.02.005. ISSN 1532-8392. PMID 26980036. Check date values in: |date= (help)
  6. ↑ 6.0 6.1 6.2 6.3 Rougemont, Anne-Laure; et al. (2019-08). "Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor". Virchows Archiv: An International Journal of Pathology. 475 (2): 251–254. doi:10.1007/s00428-019-02556-2. ISSN 1432-2307. PMID 30911815. Check date values in: |date= (help)
  7. ↑ Boland, Jennifer M.; et al. (2017-09). "Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?". Advances in Anatomic Pathology. 24 (5): 268–277. doi:10.1097/PAP.0000000000000151. ISSN 1533-4031. PMID 28375867. Check date values in: |date= (help)
  8. ↑ 8.0 8.1 Wei, Shi; et al. (2012-01). "Complex analysis of a recurrent pleomorphic hyalinizing angiectatic tumor of soft parts". Human Pathology. 43 (1): 121–126. doi:10.1016/j.humpath.2011.02.023. ISSN 1532-8392. PMID 21733556. Check date values in: |date= (help)

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: “Pleomorphic hyalinizing angiectatic tumour of soft parts”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/27/2025, https://ccga.io/index.php/STBT5:Pleomorphic hyalinizing angiectatic tumour of soft parts.

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