Beta-catenin mutations do not contribute to cardiac fibroma pathogenesis.
Cardiac fibromas are the 2nd most common benign cardiac tumor occurring in children and bear a striking morphologic resemblance to soft tissue or desmoid fibromatosis. Since activating mutations in beta-catenin are common in desmoid fibromatosis as well as other spindle cell proliferations, the aim of our study was to determine if such mutations could be identified in cardiac fibroma. Nine cardiac fibromas from patients with surgical resection were examined for beta-catenin mutations by immunoperoxidase staining for beta-catenin protein and DNA sequencing of a region in exon 3 of the beta-catenin gene, where relatively conserved mutations have been described in desmoid fibromatosis. The mean age of the patients was 7.6 years (range: 10 weeks to 27 years), and 6 of the patients were male. No nuclear staining for beta-catenin was seen in the fibroma cells by immunoperoxidase methods. The beta-catenin exon 3 sequence data showed no mutations in any of the 9 tumors. We conclude that despite their morphologic similarity, cardiac fibroma and desmoid fibromatosis do not share this common molecular pathway of neoplastic growth.
Miller
Dylan V
DV
Division of Anatomic Pathology, 200 First Street SW, Mayo Clinic, Rochester, MN 55905, USA. miller.dylan@mayo.edu
Wang
Huamin
H
Wang
Hua
H
Fealey
Michael E
ME
Tazelaar
Henry D
HD
D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D020022:Genetic Predisposition to Disease; D006338:Heart Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D008297:Male; D009154:Mutation; D051176:beta Catenin / Q000235:genetics* / Q000378:metabolism
D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D051176:beta Catenin