Frequent β-catenin mutations in juvenile nasopharyngeal angiofibromas

Susan C. Abraham, Elizabeth A. Montgomery, Francis M. Giardiello, Tsung Teh Wu

Research output: Contribution to journalArticle

95 Scopus citations

Abstract

Juvenile nasopharyngeal angiofibromas (JNAs) are locally aggressive vascular tumors occurring predominantly in adolescent males. The pathogenesis of JNAs is unknown. Recently, JNAs have been reported to occur at increased frequency among patients with familial adenomatous polyposis, suggesting that alterations of the adenomatous polyposis coli (APC)/β-catenin pathway might also be involved in the pathogenesis of sporadic JNAs. We analyzed somatic β-catenin and APC gene mutations in 16 sporadic JNAs from nonfamilial adenomatous polyposis patients using immunohistochemistry for β-catenin, and direct DNA sequencing for exon 3 of the β-catenin gene and the mutation cluster region of the APC gene. Nuclear accumulation of β-catenin was diffusely present in the stromal cells but not in the endothelial cells of all 16 JNAs. Activating β-catenin gene mutations were present in 75% (12 of 16) of JNAs. Six JNA patients also had recurrent tumors after surgery, and in all cases the β-catenin gene status of the recurrent JNA was identical to the initial tumor. No mutations in the mutation cluster region of the APC gene were detected in the four JNAs without β-catenin mutations. The high frequency of β-catenin mutations in sporadic JNAs and the presence of identical β-catenin gene mutations in recurrent tumors indicates that activating β-catenin gene mutations are important in the pathogenesis of JNAs. The immunohistochemical localization of β-catenin only to the nuclei of stromal cells further suggests that the stromal cells, rather than endothelial cells, are the neoplastic cells of JNAs.

Original languageEnglish (US)
Pages (from-to)1073-1078
Number of pages6
JournalAmerican Journal of Pathology
Volume158
Issue number3
DOIs
StatePublished - 2001

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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