Solitary fibrous tumor – clinicopathologic, immunohistochemical and molecular analysis of 28 cases

Diagnostic Pathology

Uta Flucke⁵  Patricia JTA Groenen⁵  Albert JH Suurmeijer²  Pieter J Slootweg⁵  Winette TA van der Graaf³  Johannes J Bonenkamp¹  Monique M Link⁵  Marian AJ Verdijk⁵  Elise M Bekers⁵  Emiel Ruijter⁴  Yvonne MH Versleijen-Jonkers³  Myrella Vlenterie³  Rob JC Vogels⁵ 

[1] Department of Surgical Oncology, Radboud University Medical Center, Nijmegen, The Netherlands;Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;Department of Medical Oncology, Radboud University Medical Center, Nijmegen, The Netherlands;Department of Pathology, Rijnstate Hospital, Arnhem, The Netherlands;Department of Pathology, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands

关键词: Soft tissue;    EGR1 immunohistochemistry;    STAT6 immunohistochemistry;    RT-PCR;    NAB2-STAT6 fusion;    Hemangiopericytoma;    Solitary fibrous tumor;   

Others  :  1149176
DOI  :  10.1186/s13000-014-0224-6

 received in 2014-09-06, accepted in 2014-11-11,  发布年份 2014

【 摘 要 】

Background

Solitary fibrous tumor is a mesenchymal tumor of fibroblastic type, which can affect any region of the body. Recently, a recurrent gene fusion NAB2-STAT6 has been identified as molecular hallmark. The NAB2-STAT6 fusion leads to EGR1 activation and transcriptional deregulation of EGR1-dependent target genes and is a driving event in initiation of SFT. In this study, we report the clinicopathologic and RT-PCR findings and evaluated expression of STAT6 and EGR1 protein in a cohort of 28 SFTs.

Methods

28 patients with a median age of 54 years were included with SFTs originating at different sites, most occurring in the lung and pleura (9, 32%), 5 in soft tissues of the lower extremities (18%) and 5 in the head and neck (18%). For detection of the NAB2-STAT6 fusion gene, RT-PCR was performed using RNA extracted from formalin-fixed and paraffin-embedded tissues. Immunohistochemistry was performed on all cases with antibodies against STAT6 and EGR1.

Results

All patients were treated by surgery, 3 with adjuvant chemo- or radiotherapy. Follow-up data of 18 patients could be obtained of which 2 patients died of metastatic disease 13 months and 52 years after first diagnosis. Sixteen patients have no evidence of disease with a median follow up of 29.5 months (range 7 – 120 months). NAB2-STAT6 fusion transcripts were found in 19/28 cases (68%). The most common fusion was between NAB2 exon 4 and STAT6 exon 3 (11/19, 58%), mainly occurring in pleuropulmonary lesions. All cases showed strong nuclear expression of STAT6 (28/28, 100%) while EGR1 showed low-level variable nuclear expression in all samples, comparable with the EGR1 expression results of the control group.

Conclusions

The identification of the NAB2-STAT6 fusion in SFTs can provide important diagnostic information, especially in cases with aberrant morphology or when biopsy material is limited. STAT6 immunohistochemistry is another useful tool in diagnosing SFT. EGR1 immunohistochemistry indicates low-level protein expression in accordance with EGR1 activation due to distorted NAB2 activity.

Virtual slides

The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_224 webcite

【 授权许可】

   
2014 Vogels et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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