Pilocytic astrocytoma: pathology, molecular mechanisms and markers

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• 作者：V. Peter Collins ; David T. W. Jones ; Caterina Giannini
• 关键词：Pilocytic astrocytoma ; Brain neoplasms ; Histopathology ; Morphology ; Immunocytochemistry ; Oncogenes ; Molecular pathology ; MAPK
• 刊名：Acta Neuropathologica
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：129
• 期：6
• 页码：775-788
• 全文大小：2,855 KB
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• 作者单位：V. Peter Collins (1) (4)
  David T. W. Jones (2)
  Caterina Giannini (3)
  
  1. Department of Pathology, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK
  4. Department of Histopathology, Addenbrooke’s Hospital, University of Cambridge, Box 235, Hills Road, Cambridge, CB2 2QQ, England, UK
  2. Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  3. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Pathology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0533

文摘

Pilocytic astrocytomas (PAs) were recognized as a discrete clinical entity over 70?years ago. They are relatively benign (WHO grade I) and have, as a group, a 10-year survival of over 90?%. Many require merely surgical removal and only very infrequently do they progress to more malignant gliomas. While most show classical morphology, they may present a spectrum of morphological patterns, and there are difficult cases that show similarities to other gliomas, some of which are malignant and require aggressive treatment. Until recently, almost nothing was known about the molecular mechanisms involved in their development. The use of high-throughput sequencing techniques interrogating the whole genome has shown that single abnormalities of the mitogen-activating protein kinase (MAPK) pathway are exclusively found in almost all cases, indicating that PA represents a one-pathway disease. The most common mechanism is a tandem duplication of a ??Mb-fragment of #7q, giving rise to a fusion between two genes, resulting in a transforming fusion protein, consisting of the N-terminus of KIAA1549 and the kinase domain of BRAF. Additional infrequent fusion partners have been identified, along with other abnormalities of the MAP-K pathway, affecting tyrosine kinase growth factor receptors at the cell surface (e.g., FGFR1) as well as BRAF V600E, KRAS, and NF1 mutations among others. However, while the KIAA1549-BRAF fusion occurs in all areas, the incidence of the various other mutations identified differs in PAs that develop in different regions of the brain. Unfortunately, from a diagnostic standpoint, almost all mutations found have been reported in other brain tumor types, although some retain considerable utility. These molecular abnormalities will be reviewed, and the difficulties in their potential use in supporting a diagnosis of PA, when the histopathological findings are equivocal or in the choice of individualized therapy, will be discussed.