NAB2–STAT6 fusion gene analysis in two cases of meningeal solitary fibrous tumor/hemangiopericytoma with late distant metastases

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• 作者：Satoko Nakada ; Hiroshi Minato ; Tsutomu Takegami ; Nozomu Kurose…
• 关键词：Hemangiopericytoma ; Solitary fibrous tumor ; Meningeal tumor ; Immunohistochemistry ; NAB2–STAT6 fusion gene
• 刊名：Brain Tumor Pathology
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：32
• 期：4
• 页码：268-274
• 全文大小：1,789 KB
• 参考文献：1.Fletcher CDM, Bridge JA, Lee JC (2013) Extrapleural solitary fibrous tumour. In: Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F (eds) WHO classification of tumours of soft tissue and bone, 4th edn. IARC Press, Lyon, pp 80-2
  2.Paulus W, Scheithauer BW, Perry A (2007) Mesenchymal, non-meningoethelial tumours. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds) WHO classification of tumours of the central nervous system, 4th edn. IARC Press, Lyon, pp 173-77
  3.Schweizer L, Koelsche C, Sahm F et al (2013) Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2–STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein. Acta Neuropathol 125:651-58CrossRef PubMed
  4.Yoshida A, Tsuta K, Ohno M et al (2014) STAT6 Immunohistochemistry is helpful in the diagnosis of solitary fibrous tumors. Am J Surg Pathol 38:552-59CrossRef PubMed
  5.Barthelme? S, Geddert H, Boltze C et al (2014) Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2–STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features. Am J Pathol 184:1209-218CrossRef PubMed
  6.Damodaran O, Robbins P, Knuckey N et al (2014) Primary intracranial haemangiopericytoma: comparison of survival outcomes and metastatic potential in WHO grade II and III variants. J Clin Neurosci 21:1310-314CrossRef PubMed
  7.Fountas KN, Kapsalaki E, Kassam M et al (2006) Management of intracranial meningeal hemangiopericytomas: outcome and experience. Neurosurg Rev 29:145-53CrossRef PubMed
  8.Perry A, Scheithauer BW, Nascimento AG (1997) The immunophenotypic spectrum of meningeal hemangiopericytoma: a comparison with fibrous meningioma and solitary fibrous tumor of meninges. Am J Surg Pathol 21:1354-360CrossRef PubMed
  9.Rajaram V, Brat DJ, Perry A (2004) Anaplastic meningioma versus meningeal hemangiopericytoma: immunohistochemical and genetic markers. Hum Pathol 35:1413-418CrossRef PubMed
  10.Robinson DR, Wu Y-M, Kalyana-Sundaram S et al (2013) Identification of recurrent NAB2–STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet 45:180-85PubMedCentral CrossRef PubMed
  11.Chmielecki J, Crago AM, Rosenberg M et al (2013) Whole-exome sequencing identifies a recurrent NAB2–STAT6 fusion in solitary fibrous tumors. Nat Genet 45:131-32PubMedCentral CrossRef PubMed
  12.Doyle LA, Vivero M, Fletcher CD et al (2014) Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics. Mod Pathol 27:390-95CrossRef PubMed
  13.Koelsche C, Schweizer L, Renner M et al (2014) Nuclear relocation of STAT6 reliably predicts NAB2/STAT6 fusion for the diagnosis of solitary fibrous tumour. Histopathology 65:613-22CrossRef PubMed
  14.Reich NC (2013) STATs get their move on. JAKSTAT 2:e27080PubMedCentral PubMed
  15.Svaren J, Sevetson BR, Apel ED et al (1996) NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli. Mol Cell Biol 16:3545-553PubMedCentral CrossRef PubMed
  16.Bhattacharyya S, Fang F, Tourtellotte W, Varga J (2013) Egr-1: new conductor for the tissue repair orchestra directs harmony (regeneration) or cacophony (fibrosis). J Pathol 229:286-97PubMedCentral CrossRef PubMed
  17.Mohajeri A, Tayebwa J, Collin A et al (2013) Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor. Genes Chromosom Cancer 52:873-86CrossRef PubMed
  18.Shirakawa T, Kawazoe Y, Tsujikawa T et al (2011) Deactivation of STAT6 through serine 707 phosphorylation by JNK. J Biol Chem 286:4003-010PubMedCentral CrossRef PubMed
  19.Doyle LA, Tao D, Mari?o-Enríquez A (2014) STAT6 is amplified in a subset of dedifferentiated liposarcoma. Mod Pathol 27:1231-237CrossRef PubMed
  20.Guillou L, Gebhard S, Coindre JM (2000) Lipomatous hemangiopericytoma: a fat-containing variant of solitary fibrous tumor? Clinicopathologic, immunohistochemical, and ultrastructural analysis of a series in favor of a unifying concept. Hum Pathol 31:1108-115CrossRef PubMed
  
• 作者单位：Satoko Nakada (1)
  Hiroshi Minato (1)
  Tsutomu Takegami (2)
  Nozomu Kurose (1)
  Hiroko Ikeda (3)
  Masako Kobayashi (4)
  Yasuo Sasagawa (5)
  Takuya Akai (5)
  Takashi Kato (6)
  Norio Yamamoto (6)
  Takayuki Nojima (1)
  
  1. Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Kanazawa, Ishikawa, Japan
  2. Department of Life Science, Medical Research Institute, Kanazawa Medical University, Kanazawa, Japan
  3. Section of Diagnostic Pathology, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan
  4. Department of Pathology, Kanazawa Municipal Hospital, Kanazawa, Ishikawa, Japan
  5. Department of Neurosurgery, Kanazawa Medical University, Kanazawa, Japan
  6. Department of Orthopedics, Kanazawa University Hospital, Kanazawa, Japan
  
• 刊物主题：Neurosurgery; Neurology; Pathology; Oncology; Cancer Research;
• 出版者：Springer Japan
• ISSN：1861-387X

文摘

We present two cases of meningeal solitary fibrous tumor (SFT)/hemangiopericytoma (HPC) with immunohistochemistry of STAT6 and analysis of NAB2–STAT6 fusion genes. Case 1 was a 37-year-old male with a left middle fossa tumor; case 2 was a 68-year-old female with a cerebellar tumor. They showed late metastasis to the lung or bone 8 or 13 years, respectively, after the first surgery. Histology of both primary and metastatic tumors showed a cellular hemangiopericytomatous pattern with nuclear atypia. The primary tumors showed nuclear staining of STAT6, but both metastatic tumors showed nuclear and cytoplasmic STAT6. DNA sequencing revealed two kinds of NAB2–STAT6 fusion genes. One consisted of exon 6 of NAB2, intron 6 of NAB2, and the middle of exon 17 of STAT6 (observed in the primary and metastatic tumors of case 1); the other consisted of exon 6 of NAB2 and the beginning of exon 17 of STAT6 (observed in the metastatic tumor of case 2). The primary tumor of case 2 had both fusion genes. To the best of our knowledge, we are the first to report NAB2–STAT6 fusion gene analysis in primary and metastatic meningeal SFT/HPCs and a case showed different fusion gene status in the metastatic tumor. Keywords Hemangiopericytoma Solitary fibrous tumor Meningeal tumor Immunohistochemistry NAB2–STAT6 fusion gene