---
title: "Genomic Re-analysis of a Case with Desmoid Tumor"
authors:
  - "Journal Editor"
license: "https://creativecommons.org/licenses/by/4.0/"
date: "2026-10-18"
version: 1
canonical_url: "https://rttp.dev/publications/genomic-re-analysis-desmoid-tumor"
---

# Genomic Re-analysis of a Case with Desmoid Tumor

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**Figure 1.** 
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Known Etiology and Molecular Pathogenesis

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Pipeline

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Somatic SNV (MSK report)

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Somatic SNV (preliminary results)

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CNV (MSK report)

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Did not observe read depth changes at AXIN2 or KIT

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Somatic CNV: combine loss of heterozygosity (LOH) and read-depth changes

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No evidence for the duplications of AXIN2 or KIT in either LOH or Read Depth

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Chr20 trisomy + deletion

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Prevalent chromosome arm aneuploidy (CAA)

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CNV’s on known cancer driver genes\*

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KARS duplication

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Germline Predisposition Mutations

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Somatic LI insertion in gene COMMDIO

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Atypical LI retrotransposition

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Summary - preliminary results

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Preliminary results for sharing

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