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参考文献
1)
2)
3)
4)
5)
6)
7)
Yoshimoto K, Iwaki T, Inamura T, Fukui M, Tahira T and Hayashi K : Multiplexed analysis of post-PCR
fluorescence-labeled microsatellite alleles and statistical evaluation of their imbalance in brain tumors.
Japanese J Cancer Res. 93 : 284-290, 2002.
Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A,
Mclendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J,
Smith DR, Strausberg R, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N,
Parmigiani G, Vogelstein B, Velculescu VE and Kinzler KW : An integrated genomic analysis of human
glioblastoma multiforme. Science. 321 : 1807-1812, 2008.
Yan H, Parsons DW, Jin G, Mclendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ,
Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B and Bigner DD :
IDH1 and IDH2 Mutations in Gliomas . N Engl J Med. 360 : 765-773, 2009.
Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA,
Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova
M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen
W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A,
Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D,
Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C,
Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM and Jabado N : Driver
mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature. 482 : 226-231,
2012.
Louis DN , Wiestler OD, Cavenee WK, Ellison DW, Figarella-Branger D, Perry A, Reifenberger G and von
DA : No Title WHO Classification of Tumours of the Central Nervous System (Revised 4th Edition).
International Agency for Research on Cancer, 2007.
Louis DN, Aldape K, Brat DJ, Capper D, Ellison DW, Hawkins C, Paulus W, Perry A, Reifenberger G,
Figarella-Branger D, Wesseling P, Batchelor TT, Gregory Cairncross J, Pfister SM, Rutkowski S, Weller M,
Wick W and von Deimling A : cIMPACT-NOW (the consortium to inform molecular and practical approaches
to CNS tumor taxonomy) : a new initiative in advancing nervous system tumor classification. Brain Pathol. 27 :
851-852, 2017.
Louis DN, Wesseling P, Paulus W, Giannini C, Batchelor TT, Cairncross JG, Capper D, Figarella-Branger D,
Lopes MB, Wick W and van den Bent M : cIMPACT-NOW update 1 : Not Otherwise Specified (NOS) and Not
脳腫瘍の分子診断と 2021WHO 新分類
8)
9)
10)
11)
12)
13)
14)
15)
16)
225
Elsewhere Classified (NEC). Acta Neuropathol. 135 : 481-484, 2018
Louis DN, Giannini C, Capper D, Paulus W, Figarella-Branger D, Lopes MB, Batchelor TT, Cairncross JG, van
den Bent M, Wick W and Wesseling P : cIMPACT-NOW update 2 : diagnostic clarifications for diffuse midline
glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant. Acta Neuropathol.
135 : 639-642, 2018.
Brat DJ, Aldape K, Colman H, Holland EC, Louis DN, Jenkins RB, Kleinschmidt-DeMasters BK, Perry A,
Reifenberger G, Stupp R, von Deimling A and Weller M : cIMPACT-NOW update 3 : recommended
diagnostic criteria for cDiffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma,
WHO grade IV.e Acta Neuropathol.136 : 805-810, 2018.
Ellison DW, Hawkins C, Jones DTW, Onar-Thomas A, Pfister SM, Reifenberger G and Louis DN :
cIMPACT-NOW update 4 : diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAF
V600E mutation. Acta Neuropathol.137 : 683-687, 2019.
Louis DN, Ellison DW, Brat DJ, Aldape K, Capper D, Hawkins C, Paulus W, Perry A, Reifenberger G,
Figarella-Branger D, von Deimling A and Wesseling P : cIMPACT-NOW : a practical summary of diagnostic
points from Round 1 updates. Brain Pathol. 29 : 469-472, 2019.
Brat DJ, Aldape K, Colman H, Figrarella-Branger D, Fuller GN, Giannini C, Holland EC, Jenkins R,
Kleinschmidt-DeMasters B, Komori T, Kros JM, Louis DN, McLean C, Perry A, Reifenberger G, Sarkar C,
Stupp R, van den Bent MJ, von Deimling A and Weller M : cIMPACT-NOW update 5 : recommended grading
criteria and terminologies for IDH-mutant astrocytomas. Acta Neuropathol. 139 : 603-608, 2020.
Louis DN, Wesseling P, Aldape K, Brat DJ, Capper D, Cree IA, Eberhart C, Figarella-Branger D, Fouladi M,
Fuller GN, Giannini C, Haberler C, Hawkins C, Komori T, Kros JM, Ng HK, Orr BA, Park SH, Paulus W, Perry
A, Pietsch T, Reifenberger G, Rosenblum M, Rous B, Sahm F, Sarkar C, Solomon DA, Tabori U, van den Bent
MJ, von Deimling A, Weller M, White VA and Ellison DW : cIMPACT-NOW update 6 : new entity and
diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification
and grading. Brain Pathol. 30 : 844-856, 2020.
Ellison DW, Aldape KD, Capper D, Fouladi M, Gilbert MR, Gilbertson RJ, Hawkins C, Merchant TE, Pajtler K,
Venneti S and Louis DN : cIMPACT-NOW update 7 : advancing the molecular classification of ependymal
tumors. Brain Pathol. 30 : 863-866, 2020.
WHO classification of Tumours Editorial Board. Central nervous system tumours. Lyon (France) :
International Agency for Research on Cancer ; 2021 (WHO Classification of tumours series, 5th ed. ; vol.6)
https://publications.iarc.fr/601.
Higa N, Akahane T, Yokoyama S, Yonezawa H, Uchida H, Takajo T, Kirishima M, Hamada T, Matsuo K, Fujio
S, Hanada T, Hosoyama H, Yonenaga M, Sakamoto A, Hiraki T, Tanimoto A and Yoshimoto K : A tailored
next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter
glioblastomas. Cancer Sci. 111 : 3902-3911, 2020.
(特に重要な文献については,番号をゴシック体で表記している.
著者プロフィール
吉本 幸司(よしもとこうじ)
九州大学教授(大学院医学研究院脳神経外科).医学博士
◆略歴 1969 年鹿児島県に生まれる.1995 年九州大学医学部卒業,同年脳神経外科教室に入局.
2002 年同大学院医学系研究科博士課程終了.2004〜2006 年カリフォルニア大学ロサンゼ
ルス校(UCLA)博士研究員.2007 年九州大学助教.2009 年同講師.2017 年同准教授.
2018 年 4 月鹿児島大学大学院歯学総合研究科脳神経外科教授.2021 年 7 月より現職(2022
年 3 月まで鹿児島大学教授兼任).
◆研究テーマ 悪性脳腫瘍の遺伝子解析と分子メカニズムの解明,新規治療法の開発
脳腫瘍に対する低侵襲手術の開発(内視鏡手術,頭蓋底手術)
◆抱負 最先端でベストな医療を提供し,次世代を牽引する academic neurosurgeon を育てる.
226
Molecular Diagnosis of Brain Tumors and
the 2021 WHO Classification
Koji YOSHIMOTO
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University
Abstract
The diagnosis of brain tumors has been historically made based on the tumor origin and
histopathological features. The recent advance of molecular analysis of brain tumors has identified
characteristic genetic alterations. Some of these alterations better determines biological features of
tumors than histological diagnosis. Therefore, integrated diagnosis with histology and molecular data
was introduced in 2016 WHO classification, which means that the diagnosis of the brain tumors cannot
be possible without molecular diagnosis. The mutation of IDH and H3F3A, and chromosome 1p/19q
deletion need to be determined for the integrated diagnosis. After 2016 classification, new molecular
findings have been identified, and new diagnostic criteria with molecular data have been proposed. In
this review, I will briefly review the history of the molecular diagnosis of glioma, and summarize
general changes in the 2021 WHO new classification.
Key Words : glioma, molecular diagnosis, 2021 WHO classification, IDH
...