PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis

Ruifeng Guo, Xiaoke Wang, Margaret M. Chou, Yan Asmann, Doris E. Wenger, Alyaa Al-Ibraheemi, Diana W. Molavi, Albert Aboulafia, Long Jin, Karen Fritchie, Jennifer L. Oliveira, Robert B. Jenkins, Jennifer J. Westendorf, Jie Dong, Andre M. Oliveira

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Nodular fasciitis (NF) is a clonal self-limited neoplastic proliferation characterized by rearrangements of the USP6 locus in most examples. To our knowledge well-documented malignant behavior has never been previously observed in NF. In this report we present an unusual case of NF with classical histologic features that showed a protracted clinical course characterized by multiple recurrences and eventual metastatic behavior over a period of 10 years. Molecular analyses revealed the presence and amplification of the novel PPPR6-USP6 gene fusion, which resulted in USP6 mRNA transcriptional upregulation. These findings further support the oncogenic role of the USP6 protease in mesenchymal neoplasia and expand the biologic potential of NF.

Original languageEnglish (US)
Pages (from-to)640-649
Number of pages10
JournalGenes Chromosomes and Cancer
Volume55
Issue number8
DOIs
StatePublished - Aug 1 2016

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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