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Tytuł:
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12p gain is predominantly observed in non-germinomatous germ cell tumors and identifies an unfavorable subgroup of central nervous system germ cell tumors.
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Autorzy:
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Satomi K; Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
Takami H; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Fukushima S; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
Yamashita S; Division of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan.
Matsushita Y; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.
Nakazato Y; Department of Pathology, Hidaka Hospital, Gunma, Japan.
Suzuki T; Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Saitama, Japan.
Tanaka S; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Mukasa A; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.; Department of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Saito N; Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Kanamori M; Department of Neurosurgery, Tohoku University Graduate School of Medicine, Miyagi, Japan.
Kumabe T; Department of Neurosurgery, Tohoku University Graduate School of Medicine, Miyagi, Japan.; Department of Neurosurgery, Kitasato University, Kanagawa, Japan.
Tominaga T; Department of Neurosurgery, Tohoku University Graduate School of Medicine, Miyagi, Japan.
Kobayashi K; Department of Neurosurgery, Kyorin University Faculty of Medicine, Tokyo, Japan.
Nagane M; Department of Neurosurgery, Kyorin University Faculty of Medicine, Tokyo, Japan.
Iuchi T; Department of Neurosurgery, Chiba Cancer Center, Chiba, Japan.
Yoshimoto K; Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Tamura K; Department of Functional Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan.
Maehara T; Department of Functional Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan.
Sakai K; Department of Neurosurgery, Shinshu Ueda Medical Center, Nagano, Japan.
Sugiyama K; Department of Clinical Oncology and Neuro-Oncology Program, Cancer Treatment Center, Hiroshima University Hospital, Hiroshima, Japan.
Yokogami K; Department of Neurosurgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Takeshima H; Department of Neurosurgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Nonaka M; Department of Neurosurgery, Kansai Medical University Hospital, Osaka, Japan.
Asai A; Department of Neurosurgery, Kansai Medical University Hospital, Osaka, Japan.
Ushijima T; Division of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan.
Matsutani M; Gotanda Rehabilitation Hospital, Tokyo, Japan.
Nishikawa R; Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Saitama, Japan.
Ichimura K; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.; Department of Brain Disease Translational Research, Juntendo University Faculty of Medicine, Tokyo, Japan.
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Źródło:
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Neuro-oncology [Neuro Oncol] 2022 May 04; Vol. 24 (5), pp. 834-846.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: 2010- : Oxford : Oxford University Press
Original Publication: 1999-<2002> : Charlottesville, VA : Carden Jennings Pub.,
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MeSH Terms:
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Brain Neoplasms*/genetics
Brain Neoplasms*/therapy
Central Nervous System Neoplasms*/genetics
Central Nervous System Neoplasms*/pathology
Germinoma*
Neoplasms, Germ Cell and Embryonal*/genetics
Neoplasms, Germ Cell and Embryonal*/therapy
Pineal Gland*/pathology
Testicular Neoplasms*
Child ; Humans ; In Situ Hybridization, Fluorescence ; Male
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Contributed Indexing:
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Keywords: 12p gain; DNA methylation; FISH; central nervous system germ cell tumor; copy number alteration
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SCR Disease Name:
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Nonseminomatous germ cell tumor
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Entry Date(s):
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Date Created: 20211026 Date Completed: 20220509 Latest Revision: 20221028
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Update Code:
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20240105
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PubMed Central ID:
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PMC9071297
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DOI:
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10.1093/neuonc/noab246
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PMID:
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34698864
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Background: Central nervous system (CNS) germ cell tumors (GCTs) are neoplasms predominantly arising in pediatric and young adult populations. While germinomas generally respond to chemotherapy and radiation, non-germinomatous GCTs (NGGCTs) require more intensive treatment. This study aimed to determine whether 12p gain could predict the prognosis of CNS GCTs.
Methods: Eighty-two CNS GCTs were included in this study. The 12p gain was defined by an additional 12p in the background of potential polyploidy or polysomy. Cases were analyzed using an Illumina methylation 450K array for copy number investigations and validated by fluorescence in situ hybridization (FISH).
Results: A 12p gain was found in 25-out-of-82 cases (30%) and was more frequent in NGGCTs (12% of germinoma cases and 50% of NGGCT cases), particularly in cases with malignant components, such as immature teratoma, yolk sac tumor, choriocarcinoma, and embryonal carcinoma. 12p gain and KIT mutation were mutually exclusive events. The presence of 12p gain correlated with shorter progression-free (PFS) and overall survival (OS) (10-year OS: 59% vs. 94%, with and without 12p gain, respectively, P = 0.0002), even with histology and tumor markers incorporated in the multivariate analysis. Among NGGCTs, 12p gain still had prognostic significance for PFS and OS (10-year OS: 47% vs. 90%, respectively, P = 0.02). The 12p copy number status was shared among histological components in mixed GCTs.
Conclusions: 12p gain may predict the presence of malignant components of NGGCTs, and poor prognosis of the patients. It may be associated with early tumorigenesis of CNS GCT.
(© The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
