具有PRKAR1A,KMT2C和GNAQ突变的恶性黑色神经膜瘤
Merryl Terry1, Kristina Wakeman1, Brian J Williams2,3
1Departments of Pathology and Laboratory Medicine, University of Louisville, Louisville, KY, USA.
Free neuropathology
|June 7, 2023
概括
恶性黑色神经膜瘤 (MMNST) 是一种罕见的,具有攻击性的病变. 这一案例凸显了GNAQ突变可以发生在MMNST中,这挑战了它们在区分这些瘤和黑色细胞病变中的使用.
科学领域:
- 神经瘤学神经瘤学
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 恶性黑色神经膜瘤 (MMNST) 是一种罕见的,攻击性的中枢神经系统瘤.
- MMNSTs与黑色素瘤和黑色素瘤有共同的特征,通常含有PRKAR1A突变.
- 区分MMNST与黑色细胞病变可能是具有挑战性的,因为重叠的特征.
研究的目的:
- 呈现出一个在骨区域的侵略性MMNST病例.
- 为了研究这个MMNST的遗传景观,包括PRKAR1A,KMT2C,GNAQ,BRAF和MYC突变.
- 评估GNAQ突变在区分MMNST与黑色细胞新生瘤中的有用性.
主要方法:
- 一个48岁的女性患有神圣MMNST的案例介绍.
- 综合性基因组分析,包括向基因测序和DNA甲基化分析 (Illumina 850K EpicBead芯片).
- 基于甲基化数据的瘤分类的统一多重近似和投影 (UMAP).
主要成果:
- 在MMNST中存在PRKAR1A,KMT2C,GNAQ突变以及BRAF/MYC增长.
- 甲基化概况与已建立的类别不一致,但UMAP分析将瘤置于s schwannomas附近.
- 瘤表达了PD-L1;尽管接受了治疗,但患者患上了早期疾病进展和死亡.
结论:
- 在恶性神经瘤中可能存在GNAQ突变,包括MMNST.
- 在MMNST中,GNAQ和PRKAR1A突变并不相互排斥.
- 单独的GNAQ突变无法可靠地区分MMNST/MPNST和所有黑色细胞病变.
关键词:
案例报告案例报告这是GNAQQ.在KMT2C中,KMT2C是KMT2C.MMNSTT MMNSTT 在线观看恶性黑色神经膜瘤 恶性黑色神经膜瘤神经膜瘤是一个神经瘤.这就是PRKAR1A.有色素的上皮质类黑色细胞瘤.这是一种psammomatous melanotic schwannoma,是一种心肌瘤.更多相关视频
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