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PPP6R3‐USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis
Author(s) -
Guo Ruifeng,
Wang Xiaoke,
Chou Margaret M,
Asmann Yan,
Wenger Doris E.,
AlIbraheemi Alyaa,
Molavi Diana W,
Aboulafia Albert,
Jin Long,
Fritchie Karen,
Oliveira Jennifer L.,
Jenkins Robert B.,
Westendorf Jennifer J.,
Dong Jie,
Oliveira Andre M.
Publication year - 2016
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22366
Subject(s) - nodular fasciitis , biology , locus (genetics) , gene , cancer research , downregulation and upregulation , immunohistochemistry , mesenchymal stem cell , pathology , genetics , soft tissue , immunology , medicine
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. © 2016 Wiley Periodicals, Inc.