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PATH-28. CLINICAL ANDGENETICCHARACTERISTICS OFDIFFUSE MIDLINEGLIOMA IN THE SPINALCORD Shota TanakaRyohei OtaniHirotaka Hongo2017 год

PATH-28. CLINICAL AND GENETIC CHARACTERISTICS OF DIFFUSE MIDLINE GLIOMA IN THE SPINAL CORD
статья из журнала

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Аннотация: Histone H3 gene mutation is frequently noted in pediatric diffuse intrinsic brainstem glioma (DIPG) as well as other midline glioma, hence a new entity “diffuse midline glioma, H3 K27M-mutant” in the new WHO classification. Other than pediatric DIPG, however, its clinical picture remains largely unknown including prognostic implication of this gene mutation. Spinal cord glioma is extremely rare, comprising only 1-3% of all glioma. The objective of this retrospective study is to unveil clinical and genetic profiles of diffuse midline glioma in the spinal cord. Thirty-two patients with spinal cord astrocytoma treated in Dokkyo Medical University, Tokyo Metropolitan Neurological Hospital, or The University of Tokyo between 2000 and 2016 were included in the study. The tumor affected all age groups with slight male predominance; the median age was 43 years (range, 1-84). The cervical cord was most commonly affected. Pathological diagnosis was high grade astrocytoma in 19 cases and low grade astrocytoma in 13. Genetic analysis revealed H3-K27M mutation detected by immunohistochemistry in 9 cases (28%). Of note, some of these cases with immunopositivity failed to demonstrate K27M mutation in either H3F3A or HIST1H3B in Sanger sequencing. Survival analysis suggested possibly unfavorable prognostic effect of H3-K27M mutation. Clinical presentation of diffuse midline glioma in the spinal cord varies widely. H3-K27M mutation, seen in a subset of patients, may be a poor prognostic factor in this disease entity.
Год издания: 2017
Авторы: Shota Tanaka, Ryohei Otani, Hirotaka Hongo, Hazuki Matsuda, Masako Ikemura, Masashi Nomura, Shunsaku Takayanagi, Takahide Nejo, Satoshi Takahashi, Yosuke Kitagawa, Taijun Hana, Akitake Mukasa, Keisuke Ueki, Takashi Komori, Makoto Taniguchi, Nobuhito Saito, Pyo Kin
Издательство: Oxford University Press
Источник: Neuro-Oncology
Ключевые слова: Glioma Diagnosis and Treatment, Circular RNAs in diseases
Другие ссылки: Neuro-Oncology (PDF)
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Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)