Brain Tumor Classification by Methylation Profile

被引:4
作者
Park, Jin Woo [1 ,2 ]
Lee, Kwanghoon [1 ]
Kim, Eric Eunshik [1 ]
Kim, Seong-Ik [1 ]
Park, Sung-Hye [1 ,3 ,4 ]
机构
[1] Seoul Natl Univ, Coll Med, Dept Pathol, Seoul, South Korea
[2] Yonsei Univ, Coll Med, Dept Pathol, Seoul, South Korea
[3] Seoul Natl Univ, Coll Med, Inst Neurosci, Seoul, South Korea
[4] Seoul Natl Univ, Coll Med, Dept Pathol, 101 Daehak Ro, Seoul 03080, South Korea
关键词
Brain Tumor; Classifications; Methylation; Bioinformatics; ATYPICAL TERATOID/RHABDOID TUMORS; CENTRAL-NERVOUS-SYSTEM; DNA METHYLATION; MOLECULAR CLASSIFICATION; MEDULLOBLASTOMA; DIAGNOSIS; SUBGROUPS;
D O I
10.3346/jkms.2023.38.e356
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The goal of the methylation classifier in brain tumor classification is to accurately classify tumors based on their methylation profiles. Accurate brain tumor diagnosis is the first step for healthcare professionals to predict tumor prognosis and establish personalized treatment plans for patients. The methylation classifier can be used to perform classification on tumor samples with diagnostic difficulties due to ambiguous histology or mismatch between histopathology and molecular signatures, i.e., not otherwise specified (NOS) cases or not elsewhere classified (NEC) cases, aiding in pathological decision-making. Here, the authors elucidate upon the application of a methylation classifier as a tool to mitigate the inherent complexities associated with the pathological evaluation of brain tumors, even when pathologists are experts in histopathological diagnosis and have access to enough molecular genetic information. Also, it should be emphasized that methylome cannot classify all types of brain tumors, and it often produces erroneous matches even with high matching scores, so, excessive trust is prohibited. The primary issue is the considerable difficulty in obtaining reference data regarding the methylation profile of each type of brain tumor. This challenge is further amplified when dealing with recently identified novel types or subtypes of brain tumors, as such data are not readily accessible through open databases or authors of publications. An additional obstacle arises from the fact that methylation classifiers are primarily research-based, leading to the unavailability of charging patients. It is important to note that the application of methylation classifiers may require specialized laboratory techniques and expertise in DNA methylation analysis.
引用
收藏
页数:16
相关论文
共 69 条
  • [1] Machine Learning-Based Genome-Wide Salivary DNA Methylation Analysis for Identification of Noninvasive Biomarkers in Oral Cancer Diagnosis
    Adeoye, John
    Wan, Chi Ching Joan
    Zheng, Li-Wu
    Thomson, Peter
    Choi, Siu-Wai
    Su, Yu-Xiong
    [J]. CANCERS, 2022, 14 (19)
  • [2] Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q
    Baroni, Lorena, V
    Sundaresan, Lakshmikirupa
    Heled, Ayala
    Coltin, Hallie
    Pajtler, Kristian W.
    Lin, Tong
    Merchant, Thomas E.
    McLendon, Roger
    Faria, Claudia
    Buntine, Molly
    White, Christine L.
    Pfister, Stefan M.
    Gilbert, Mark R.
    Armstrong, Terri S.
    Bouffet, Eric
    Kumar, Sachin
    Taylor, Michael D.
    Aldape, Kenneth D.
    Ellison, David W.
    Gottardo, Nicholas G.
    Kool, Marcel
    Korshunov, Andrey
    Hansford, Jordan R.
    Ramaswamy, Vijay
    [J]. NEURO-ONCOLOGY, 2021, 23 (08) : 1360 - 1370
  • [3] An Epigenetic Perspective on Intra-Tumour Heterogeneity: Novel Insights and New Challenges from Multiple Fields
    Beyes, Sven
    Bediaga, Naiara Garcia
    Zippo, Alessio
    [J]. CANCERS, 2021, 13 (19)
  • [4] Medulloblastoma in adults: evaluation of the Dutch society for neuro-oncology treatment protocol
    Bleeker, L.
    Kouwenhoven, M. C. M.
    de Heer, I.
    Lissenberg-Witte, B. I.
    Gijsbers, A. H.
    Dubbink, H. J.
    Kros, J. M.
    Gijtenbeek, J. M. M.
    Kurt, E.
    van der Rijt, C. C. D.
    Swaak-Kragten, A. T.
    de Vos, F. Y.
    van der Weide, H. L.
    French, P. J.
    van den Bent, M. J.
    Wesseling, P.
    Bromberg, J. E. C.
    [J]. JOURNAL OF NEURO-ONCOLOGY, 2023, 162 (01) : 225 - 235
  • [5] Histone Modifications and Non-Coding RNAs: Mutual Epigenetic Regulation and Role in Pathogenesis
    Bure, Irina, V
    Nemtsova, Marina, V
    Kuznetsova, Ekaterina B.
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (10)
  • [6] DNA methylation-based classification of central nervous system tumours
    Capper, David
    Jones, David T. W.
    Sill, Martin
    Hovestadt, Volker
    Schrimpf, Daniel
    Sturm, Dominik
    Koelsche, Christian
    Sahm, Felix
    Chavez, Lukas
    Reuss, David E.
    Kratz, Annekathrin
    Wefers, Annika K.
    Huang, Kristin
    Pajtler, Kristian W.
    Schweizer, Leonille
    Stichel, Damian
    Olar, Adriana
    Engel, Nils W.
    Lindenberg, Kerstin
    Harter, Patrick N.
    Braczynski, Anne K.
    Plate, Karl H.
    Dohmen, Hildegard
    Garvalov, Boyan K.
    Coras, Roland
    Hoelsken, Annett
    Hewer, Ekkehard
    Bewerunge-Hudler, Melanie
    Schick, Matthias
    Fischer, Roger
    Beschorner, Rudi
    Schittenhelm, Jens
    Staszewski, Ori
    Wani, Khalida
    Varlet, Pascale
    Pages, Melanie
    Temming, Petra
    Lohmann, Dietmar
    Selt, Florian
    Witt, Hendrik
    Milde, Till
    Witt, Olaf
    Aronica, Eleonora
    Giangaspero, Felice
    Rushing, Elisabeth
    Scheurlen, Wolfram
    Geisenberger, Christoph
    Rodriguez, Fausto J.
    Becker, Albert
    Preusser, Matthias
    [J]. NATURE, 2018, 555 (7697) : 469 - +
  • [7] Development of a Machine Learning Classifier for Brain Tumors Diagnosis Based on DNA Methylation Profile
    Chen, Yuxing
    Yan, Yixin
    Xu, Moping
    Chen, Wen
    Lin, Jinyu
    Zhao, Yan
    Wu, Junze
    Wang, Xianlong
    [J]. FRONTIERS IN BIOINFORMATICS, 2021, 1
  • [8] Subgroup and subtype-specific outcomes in adult medulloblastoma
    Coltin, Hallie
    Sundaresan, Lakshmikirupa
    Smith, Kyle S.
    Skowron, Patryk
    Massimi, Luca
    Eberhart, Charles G.
    Schreck, Karisa C.
    Gupta, Nalin
    Weiss, William A.
    Tirapelli, Daniela
    Carlotti, Carlos
    Li, Kay K. W.
    Ryzhova, Marina
    Golanov, Andrey
    Zheludkova, Olga
    Absalyamova, Oksana
    Okonechnikov, Konstantin
    Stichel, Damian
    von Deimling, Andreas
    Giannini, Caterina
    Raskin, Scott
    Van Meir, Erwin G.
    Chan, Jennifer A.
    Fults, Daniel
    Chambless, Lola B.
    Kim, Seung-Ki
    Vasiljevic, Alexandre
    Faure-Conter, Cecile
    Vibhakar, Rajeev
    Jung, Shin
    Leary, Sarah
    Mora, Jaume
    McLendon, Roger E.
    Pollack, Ian F.
    Hauser, Peter
    Grajkowska, Wieslawa A.
    Rubin, Joshua B.
    van Veelen, Marie-Lise C.
    French, Pim J.
    Kros, Johan M.
    Liau, Linda M.
    Pfister, Stefan M.
    Kool, Marcel
    Kijima, Noriyuki
    Taylor, Michael D.
    Packer, Roger J.
    Northcott, Paul A.
    Korshunov, Andrey
    Ramaswamy, Vijay
    [J]. ACTA NEUROPATHOLOGICA, 2021, 142 (05) : 859 - 871
  • [9] DNA Methylation and Cancer Diagnosis
    Delpu, Yannick
    Cordelier, Pierre
    Cho, William C.
    Torrisani, Jerome
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2013, 14 (07): : 15029 - 15058
  • [10] Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) - a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14
    Deng, M. Y.
    Sill, M.
    Sturm, D.
    Stichel, D.
    Witt, H.
    Ecker, J.
    Wittmann, A.
    Schittenhelm, J.
    Ebinger, M.
    Schuhmann, M. U.
    Figarella-Branger, D.
    Aronica, E.
    Staszewski, O.
    Preusser, M.
    Haberler, C.
    Lauten, M.
    Schueller, U.
    Hartmann, C.
    Snuderl, M.
    Dunham, C.
    Jabado, N.
    Wesseling, P.
    Deckert, M.
    Keyvani, K.
    Gottardo, N.
    Giangaspero, F.
    von Hoff, K.
    Ellison, D. W.
    Pietsch, T.
    Herold-Mende, C.
    Milde, T.
    Witt, O.
    Kool, M.
    Korshunov, A.
    Wick, W.
    von Deimling, A.
    Pfister, S. M.
    Jones, D. T. W.
    Sahm, F.
    [J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2020, 46 (05) : 422 - 430