Superficial fibromatoses are genetically distinct from deep fibromatoses.

Abstract

Whereas deep fibromatoses (abdominal, extra-abdominal, mesenteric) display locally aggressive behavior, superficial fibromatoses typically remain small and less likely to recur despite essentially identical morphology. Somatic beta-catenin or APC gene mutations have been reported in < or =74% of sporadic deep fibromatoses and in virtually 100% of Gardner syndrome-associated fibromatoses, whereas genetic events in superficial fibromatoses remain less well characterized. We performed immunohistochemical staining for beta-catenin on 29 superficial fibromatoses (22 palmar, 5 plantar, 1 penile, and 1 infantile digital fibromatosis) and 5 deep fibromatoses. Mutations of beta-catenin and APC genes were analyzed in cases of superficial fibromatoses by direct DNA sequencing of the beta-catenin gene on Exon 3 encompassing the GSK-3 36 phosphorylation region and of the APC gene on the mutation cluster region. Nuclear accumulation of beta-catenin was present in 86% (25/29) of superficial fibromatosis cases ranging from 5 to 100% of nuclei (mean, 13%; median, 10%), though in a minority of nuclei in most examples. Deep fibromatoses had 60 to 100% nuclear staining in all five cases. No somatic mutations of beta-catenin or APC genes were identified in any of the superficial fibromatoses. In contrast to deep fibromatoses, superficial fibromatoses lack beta-catenin and APC gene mutations; the significance of focal nuclear beta-catenin accumulation is unclear. This difference may account inpart for their divergent clinical manifestations despite their morphologic resemblance to deep fibromatoses.

• Authors: E Montgomery, J H Lee, S C Abraham, T T Wu
• Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc (Mod Pathol) Vol. 14 Issue 7 Pg. 695-701 (Jul 2001) ISSN: 0893-3952 [Print] United States
• PMID: 11455002 (Publication Type: Journal Article)

Chemical References

• CTNNB1 protein, human
• Cytoskeletal Proteins
• DNA, Neoplasm
• Trans-Activators
• beta Catenin

Topics

• Adult
• Aged
• Cell Nucleus (metabolism)
• Cytoskeletal Proteins (analysis, genetics)
• DNA Mutational Analysis
• DNA, Neoplasm (chemistry, genetics)
• Diagnosis, Differential
• Female
• Fibroma (genetics, metabolism, pathology)
• Genes, APC (genetics)
• Humans
• Male
• Middle Aged
• Mutation
• Trans-Activators
• beta Catenin