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000119617 0247_ $$2doi$$a10.1016/j.ajpath.2013.12.016
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000119617 0247_ $$2ISSN$$a0002-9440
000119617 0247_ $$2ISSN$$a1525-2191
000119617 037__ $$aDKFZ-2017-00248
000119617 041__ $$aeng
000119617 082__ $$a610
000119617 1001_ $$aBarthelmeß, Sarah$$b0
000119617 245__ $$aSolitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features.
000119617 260__ $$aNew York [u.a.]$$bElsevier$$c2014
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000119617 520__ $$aRecurrent somatic fusions of the two genes, NGFI-A-binding protein 2 (NAB2) and STAT6, located at chromosomal region 12q13, have been recently identified to be presumable tumor-initiating events in solitary fibrous tumors (SFT). Herein, we evaluated a cohort of 52 SFTs/hemangiopericytomas (HPCs) by whole-exome sequencing (one case) and multiplex RT-PCR (all 52 cases), and identified 12 different NAB2-STAT6 fusion variants in 48 cases (92%). All 52 cases showed strong and diffuse nuclear positivity for STAT6 by IHC. We categorized the fusion variants according to their potential functional effects within the predicted fusion protein and found strong correlations with relevant clinicopathological features. Tumors with the most common fusion variant, NAB2ex4-STAT6ex2/3, corresponded to classic pleuropulmonary SFTs with diffuse fibrosis and mostly benign behavior and occurred in older patients (median age, 69 years). In contrast, tumors with the second most common fusion variant, NAB2ex6-STAT6ex16/17, were found in much younger patients (median age, 47 years) and represented typical HPCs from deep soft tissue with a more aggressive phenotype and clinical behavior. In summary, these molecular genetic findings support the concept that classic pleuropulmonary SFT and deep-seated HPC are separate entities that share common features but correlate to different clinical outcome.
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000119617 650_7 $$2NLM Chemicals$$aNAB2 protein, human
000119617 650_7 $$2NLM Chemicals$$aRepressor Proteins
000119617 650_7 $$2NLM Chemicals$$aSTAT6 Transcription Factor
000119617 650_7 $$2NLM Chemicals$$aSTAT6 protein, human
000119617 7001_ $$aGeddert, Helene$$b1
000119617 7001_ $$aBoltze, Carsten$$b2
000119617 7001_ $$aMoskalev, Evgeny A$$b3
000119617 7001_ $$0P:(DE-He78)e247efc0264a7b0e4bae09804002d4e1$$aBieg, Matthias$$b4$$udkfz
000119617 7001_ $$aSirbu, Horia$$b5
000119617 7001_ $$0P:(DE-He78)fc949170377b58098e46141d95c72661$$aBrors, Benedikt$$b6$$udkfz
000119617 7001_ $$0P:(DE-He78)f6bebe05e7a748d3cbf9f59659567d52$$aWiemann, Stefan$$b7$$udkfz
000119617 7001_ $$aHartmann, Arndt$$b8
000119617 7001_ $$aAgaimy, Abbas$$b9
000119617 7001_ $$aHaller, Florian$$b10
000119617 773__ $$0PERI:(DE-600)1480207-7$$a10.1016/j.ajpath.2013.12.016$$gVol. 184, no. 4, p. 1209 - 1218$$n4$$p1209 - 1218$$tThe American journal of pathology$$v184$$x0002-9440$$y2014
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