High-Grade Astrocytoma With Piloid Features.

Mark A Rudolf, Sean P Ferris
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引用次数: 0

Abstract

Context.—: High-grade astrocytoma with piloid features (HGAP) is a newly recognized glioma defined by its methylation profile. Understanding of its clinical, histologic, and molecular characteristics continues to evolve.

Objective.—: To review the HGAP literature, emphasizing updates in our understanding of the entity since its codification in the 2021 World Health Organization (WHO) Blue Book. Additionally, to present a case series illustrating a single institutional experience with HGAP.

Data sources.—: The English-language HGAP literature from 2018 to 2024 was reviewed. Four cases of HGAP were reviewed, along with relevant medical records.

Conclusions.—: HGAP is an important consideration in the differential diagnosis of isocitrate dehydrogenase-wild-type gliomas and is more frequently encountered in adults. A handful of studies published following the entity's codification in the 2021 WHO Blue Book have refined our understanding of its clinical, histologic, and hallmark molecular characteristics. The most substantial updates include the description of 3 provisional subtypes, further characterization of an association with neurofibromatosis 1 syndrome, identification of new rare molecular alterations, and documentation of a unique case of possible transformation of pilocytic astrocytoma into HGAP. Clues to the diagnosis of HGAP include histologic infiltrating glioma with moderate pleomorphism, posterior fossa location, CDKN2A/B (cyclin dependent kinase inhibitor 2A/B) deletion, MAPK (mitogen-activated protein kinase) pathway alterations, ATRX (alpha thalassemia/mental retardation syndrome X-linked) loss, and association with neurofibromatosis 1 syndrome in some cases; these findings should prompt further molecular testing, including genome-wide DNA methylation analysis, which is currently essential for diagnosis.

具有核样特征的高级星形细胞瘤。
上下文。高级别星形细胞瘤(High-grade astrocytoma with piloid features, HGAP)是一种新发现的胶质瘤,由其甲基化特征定义。对其临床、组织学和分子特征的了解在不断发展。-:审查《健康与卫生行动计划》的文献,强调自2021年世界卫生组织(世卫组织)蓝皮书将该实体编入法典以来,我们对该实体的理解有所更新。此外,提供一个案例系列,说明单一机构在HGAP方面的经验。数据源。-:回顾2018年至2024年HGAP英文文献。回顾了4例HGAP病例,并附上了相关的医疗记录。-: HGAP是异柠檬酸脱氢酶野生型胶质瘤鉴别诊断的重要考虑因素,在成人中更常见。在2021年世卫组织蓝皮书将该实体编入法典后,发表的一些研究改进了我们对其临床、组织学和标志性分子特征的理解。最重要的更新包括对3个临时亚型的描述,与神经纤维瘤病1综合征的进一步表征,新的罕见分子改变的鉴定,以及一个可能由毛细胞星形细胞瘤转变为HGAP的独特病例的记录。HGAP的诊断线索包括组织学浸润性胶质瘤伴中度多形性、后窝定位、CDKN2A/B(细胞周期蛋白依赖性激酶抑制剂2A/B)缺失、MAPK(丝裂原活化蛋白激酶)通路改变、ATRX (α地中海贫血/智力迟钝综合征x连锁)缺失,以及在某些情况下与神经纤维瘤病1综合征相关;这些发现应该促使进一步的分子检测,包括全基因组DNA甲基化分析,这是目前诊断的关键。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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