Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas.
Gardner fibroma (GAF) is a benign soft tissue lesion with a predilection for childhood and adolescence and an association with familial adenomatous polyposis (FAP) and desmoid type fibromatosis (desmoid). We report 45 patients with GAF with clinicopathologic correlation and immunohistochemical analysis for beta-catenin and related proteins. Forty-five patients with 57 GAFs were identified from surgical pathology and consultation files. Immunohistochemistry for beta-catenin, cyclin-D1, and C-myc was performed on formalin-fixed, paraffin-embedded tissues using standard techniques in 25 GAFs from 24 patients. Information about family history, intestinal polyps, colon cancer, and soft tissue tumors was available in 23 patients. Sixty-nine percent had known FAP or adenomatous polyposis coli (APC), 22% had no history of familial polyps or soft tissue tumors, and 13% had an individual or family history of soft tissue masses and/or desmoids, with follow-up periods of 6 months to 26 years (median 3 y, mean 5 y). The age range at initial diagnosis was 2 months to 36 years. Seventy-eight percent were diagnosed in the first decade, 15% in the second decade, and 7% in the third decade. Eight patients (18%) had documented desmoids concurrently or later; 4 of these had FAP and 1 had familial desmoids. Sites of GAF included the back and paraspinal region in 61%, the head and neck in 14%, the extremities in 14%, and the chest and abdomen in 11%. All displayed a bland hypocellular proliferation of haphazardly arranged coarse collagen fibers with a bland hypocellular proliferation of inconspicuous spindle cells, small blood vessels, and a sparse mast cell infiltrate. Immunohistochemically, 64% showed nuclear reactivity for beta-catenin (9 patients with known APC, 5 without definite information about FAP). One hundred percent showed nuclear reactivity for both cyclin-D1 and C-myc. beta-catenin reactivity had no correlation with age, site, or recurrence. Two beta-catenin-negative GAFs were from FAP patients. In conclusion, GAF has a predilection for childhood and early adulthood, a strong association with FAP/APC, an association with concurrent or subsequent development of desmoids, and overexpression of beta-catenin and other proteins in the APC and Wnt pathways. The proportion of sporadic GAFs that have APC mutation remains to be determined.
Coffin
Cheryl M
CM
Department of Pathology, Primary Children's Medical Center and University of Utah School of Medicine, Salt Lake City, Utah, USA. cheryl.coffin@intermountainmail.org
Hornick
Jason L
JL
Zhou
Holly
H
Fletcher
Christopher D M
CD
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000378:metabolism; D002467:Cell Nucleus / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D056741:Cyclin D; D016213:Cyclins / Q000378:metabolism; D005260:Female; D005350:Fibroma / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D018222:Desmoid Tumors / Q000150:complications / Q000378:metabolism / Q000473:pathology; D005736:Gardner Syndrome / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D016271:Proto-Oncogene Proteins c-myc / Q000378:metabolism; D012983:Soft Tissue Neoplasms / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D051176:beta Catenin / Q000378:metabolism
D014408:Biomarkers, Tumor; D056741:Cyclin D; D016213:Cyclins; C489427:MYC protein, human; D016271:Proto-Oncogene Proteins c-myc; D051176:beta Catenin