H3G34突变的弥漫性半球胶质瘤研究进展
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R739.41

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国家自然科学基金(81972153)


Research progress in diffuse hemispheric glioma,H3 G34⁃mutant
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    摘要:

    H3 G34突变的弥漫性半球胶质瘤是2021年WHO新定义的高级别胶质瘤,其标志性特征是H3F3A基因突变,导致组蛋白H3.3第34位甘氨酸转变为精氨酸或缬氨酸。这一亚型好发于儿童及青少年,临床较为少见,发病机制仍未明确。影像学表现不典型,早期容易误诊漏诊,确诊有赖于免疫组化和分子病理。治疗以手术为主,辅以术后放化疗,但预后往往不佳。 文章综述了该亚型的相关研究进展,以期提高临床医师对该疾病的认识。

    Abstract:

    Diffuse hemispheric glioma,H3 G34-mutant is a high -grade glioma,which is newly defined by WHO in 2021,and its hallmark is the H3F3A gene mutation by exchanging glycine at position 34 of histone H3.3 for arginine or valine. This subtype occurs primarily in children and young adults and is clinically rare,of which the pathogenesis remains unclear. Imaging manifestations are not typical,and it is easy to be misdiagnosed and missed in the early stage. The diagnosis depends on immunohistochemistry and molecular pathology. Surgery is essential when it comes to treatment,supplemented by the postoperative radiotherapy and chemotherapy. Unfortunately,the prognosis remains poor. Here we reviewed the related research progress of this subtype in order to improve clinicians’understanding of the disease.

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田宇飞,季晶. H3G34突变的弥漫性半球胶质瘤研究进展[J].南京医科大学学报(自然科学版),2023,(2):283-290

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  • 在线发布日期: 2023-02-16
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