Desmoid tumor causes

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Desmoid tumor Microchapters

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Case #1

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

The exact etiology of desmoid tumors is unknown. However, Wnt/beta-catenin signaling pathway, APC mutations, CTNNB1 (beta-catenin) gene mutations, sporadic tumors and trisomy 8 and trisomy 20 seem to play a role in development of sporadic desmoids in adults. Familial desmoids in FAP patients are associated with germline APC mutations. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutations.

Causes

Type of desmoid Associated mutations
Sporadic desmoids Occur due to somatic mutation in one copy of any of the following genes: Adults
Familial desmoids/Hereditary desmoid disease Associated with FAP which has inherited mutation in one copy of APC gene
Pediatric desmoids[36] In addition to CTNNB1 mutation, pediatric desmoids have following mutations too: Children

Reference

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