Palmar fibromatosis and plantar fibromatosis

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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 Palmar fibromatosis and plantar fibromatosis
Subtype(s) N/A

Related Terminology

Acceptable Ledderhose disease
Not Recommended N/A

Other: Plantar fibromatosis


Gene Rearrangements

None

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
N/A N/A N/A N/A N/A N/A N/A N/A

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

Although studies suggest that activation of the WNT/beta-catenin signaling pathway may be present on the basis of immunohistochemistry, genetic drivers (e.g. CTNNB1 or APC) have yet to be identified.[1][2][3][4][5]

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

Genetic Diagnostic Testing Methods

Not applicable

Familial Forms

None

Additional Information

None

Links

None

References

  1. Montgomery, E.; et al. (2001-07). "Superficial fibromatoses are genetically distinct from deep fibromatoses". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 14 (7): 695–701. doi:10.1038/modpathol.3880374. ISSN 0893-3952. PMID 11455002. Check date values in: |date= (help)
  2. Dolmans, Guido H.; et al. (2011-07-28). "Wnt signaling and Dupuytren's disease". The New England Journal of Medicine. 365 (4): 307–317. doi:10.1056/NEJMoa1101029. ISSN 1533-4406. PMID 21732829.
  3. Michou, Laëtitia; et al. (2012-01). "Genetics of Dupuytren's disease". Joint Bone Spine. 79 (1): 7–12. doi:10.1016/j.jbspin.2011.05.027. ISSN 1778-7254. PMID 21803632. Check date values in: |date= (help)
  4. Mosakhani, Neda; et al. (2010-11). "Unique microRNA profile in Dupuytren's contracture supports deregulation of β-catenin pathway". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 23 (11): 1544–1552. doi:10.1038/modpathol.2010.146. ISSN 1530-0285. PMID 20676061. Check date values in: |date= (help)
  5. Stewart, Brian D.; et al. (2021-07). "Palmar and plantar fibromatosis: a review". Journal of Pathology and Translational Medicine. 55 (4): 265–270. doi:10.4132/jptm.2021.06.14. ISSN 2383-7837. PMC 8353138 Check |pmc= value (help). PMID 34225446 Check |pmid= value (help). 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: “Palmar fibromatosis and plantar fibromatosis”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 10/22/2025, https://ccga.io/index.php/STBT5:Palmar fibromatosis and plantar fibromatosis.