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Neurological Surgery 脳神経外科43巻9号

2015年09月発行

文献概要

症例

Pilomyxoid-spectrum astrocytoma 2例の臨床病理学的検討—BRAF遺伝子異常の検討も加えて

著者: 伊東民雄1 佐藤憲市1 及川光照1 杉尾啓徳1 浅野目卓1 尾崎義丸1 中村博彦1 田中伸哉2 津田真寿美2 長嶋和郎3

所属機関: 1中村記念病院脳神経外科,脳腫瘍センター 2北海道大学大学院医学研究科腫瘍病理学分野 3札幌東徳洲会病院病理診断科

ページ範囲:P.825 - P.833

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Ⅰ.はじめに
 Pilomyxoid astrocytoma(PMA)はbiphasic patternをとるpilocytic astrocytoma(PA)とは異なり,背景はmonophasicなmyxoid patternをとる腫瘍として1999年にTihanらにより提唱された19).2007年のWHO脳腫瘍分類では,PMAはPAと比べて乳幼児に発生し予後も悪いことからGrade Ⅱとして分類されている17).しかしながらPMAは再発時にPAにmatureしたという報告が散見され1,12),2010年にJohnsonらは両者は一連のspectrum上にあるとして“intermediate pilomyxoid tumors(IPTs)”の概念を提唱している12)
 一方,PAではBRAF遺伝子異常(KIAA1549-BRAF fusion)が約70%にみられるが3,4,7,8,11,15),PMAでの報告は少ない.今回われわれはPMAおよびIPT,すなわちpilomyxoid-spectrum astrocytoma(PMSA)と考えられた2例を経験したので,その臨床病理像をBRAF遺伝子異常の検討も加え報告する.

参考文献

1) Ceppa EP, Bouffet E, Griebel R, Robinson C, Tihan T:The pilomyxoid astrocytoma and its relationship to pilocytic astrocytoma:report of a case and a critical review of the entity. J Neurooncol 81:191-196, 2007
2) Cirak B, Horská A, Barker PB, Burger PC, Carson BS, Avellino AM:Proton magnetic resonance spectroscopic imaging in pediatric pilomyxoid astrocytoma. Childs Nerv Syst 21:404-409, 2005
3) Colin C, Padovani L, Chappé C, Mercurio S, Scavarda D, Loundou A, Frassineti F, André N, Bouvier C, Korshunov A, Lena G, Figarella-Branger D:Outcome analysis of childhood pilocytic astrocytomas:a retrospective study of 148 cases at a single institution. Neuropathol Appl Neurobiol 39:693-705, 2013
4) Dimitriadis E, Alexiou GA, Tsotsou P, Simeonidi E, Stefanaki K, Patereli A, Proudromou N, Pandis N:BRAF alterations in pediatric low grade gliomas and mixed neuronal-glial tumors. J Neurooncol 113:353-358, 2013
5) El Beltagy MA, Atteya MM, El-Haddad A, Awad M, Taha H, Kamal M, El Naga SA:Surgical and clinical aspects of cerebellar pilomyxoid-spectrum astrocytomas in children. Childs Nerv Syst 30:1045-1053, 2014
6) Forbes JA, Mobley BC, O'Lynnger TM, Cooper CM, Ghiassi M, Hanif R, Pearson MM:Pediatric cerebellar pilomyxoid-spectrum astrocytomas. J Neurosurg Pediatr 8:90-96, 2011
7) Forshew T, Tatevossian RG, Lawson AR, Ma J, Neale G, Ogunkolade BW, Jones TA, Aarum J, Dalton J, Bailey S, Chaplin T, Carter RL, Gajjar A, Broniscer A, Young BD, Ellison DW, Sheer D:Activation of the ERK/MAPK pathway:a signature genetic defect in posterior fossa pilocytic astrocytomas. J Pathol 218:172-181, 2009
8) Hawkins C, Walker E, Mohamed N, Zhang C, Jacob K, Shirinian M, Alon N, Kahn D, Fried I, Scheinemann K, Tsangaris E, Dirks P, Tressler R, Bouffet E, Jabado N, Tabori U:BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low-grade astrocytoma. Clin Cancer Res 17:4790-4798, 2011
9) 廣瀬隆則:毛様細胞性星細胞腫の病理.脳外速報21:1230-1236, 2011
10) Hwang JH, Egnaczyk GF, Ballard E, Dunn RS, Holland SK, Ball WS Jr:Proton MR spectroscopic characteristics of pediatric pilocytic astrocytomas. AJNR Am J Neuroradiol 19:535-540, 1998
11) Jeuken JW, Wesseling P:MAPK pathway activation through BRAF gene fusion in pilocytic astrocytomas;a novel oncogenic fusion gene with diagnostic, prognostic, and therapeutic potential. J Pathol 222:324-328, 2010
12) Johnson MW, Eberhart CG, Perry A, Tihan T, Cohen KJ, Rosenblum MK, Rais-Bahrami S, Goldthwaite P, Burger PC:Spectrum of pilomyxoid astrocytomas:intermediate pilomyxoid tumors. Am J Surg Pathol 34:1783-1791, 2010
13) Komotar RJ, Zacharia BE, Sughrue ME, Mocco J, Carson BS, Tihan T, Otten ML, Burger PC, Garvin JH, Khandji AG, Anderson RC:Magnetic resonance imaging characteristics of pilomyxoid astrocytoma. Neurol Res 30:945-951, 2008
14) Lee IH, Kim JH, Suh YL, Eo H, Shin HJ, Yoo SY, Lee KS:Imaging characteristics of pilomyxoid astrocytomas in comparison with pilocytic astrocytomas. Eur J Radiol 79:311-316, 2011
15) Lin A, Rodriguez FJ, Karajannis MA, Williams SC, Legault G, Zagzag D, Burger PC, Allen JC, Eberhart CG, Bar EE:BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants. J Neuropathol Exp Neurol 71:66-72, 2012
16) Linscott LL, Osborn AG, Blaser S, Castillo M, Hewlett RH, Wieselthaler N, Chin SS, Krakenes J, Hedlund GL, Sutton CL:Pilomyxoid astrocytoma:expanding the imaging spectrum. AJNR Am J Neuroradiol 29:1861-1866, 2008
17) Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P:The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 114:97-109, 2007
18) Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, Schmieder K, Wesseling P, Mawrin C, Hasselblatt M, Louis DN, Korshunov A, Pfister S, Hartmann C, Paulus W, Reifenberger G, von Deimling A:Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 121:397-405, 2011
19) Tihan T, Fisher PG, Kepner JL, Godfraind C, McComb RD, Goldthwaite PT, Burger PC:Pediatric astrocytomas with monomorphous pilomyxoid features and a less favorable outcome. J Neuropathol Exp Neurol 58:1061-1068, 1999

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1251

印刷版ISSN:0301-2603

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