Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis.

在患有 DICER1 综合征和 NRAS 突变型神经皮肤黑变病的儿童中 ， DICER1 突变型中枢神经系统肉瘤的神经 c 细胞起源的证据。

• 影响指数: 6.25
• 发表时间: Oct 2022
• 来源期刊: Neuropathol Appl Neurobiol
• DOI: 10.1111/nan.12830
• PMID: 35728810
• 文章类型: Journal Article
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Schweizer L,Hartmann W,Koch A,Nunninger M,Thomale UW,Pennacchietti V,Tietze A,Horn D,Pajtler KW,Hirsch S,Wieland I,Deubzer H,Rossi R,Driever PH,von Hoff K,von Zezschwitz B,Schweizer L,Hartmann W,Koch A,Nunninger M,Thomale UW,Pennacchietti V,Tietze A,Horn D,Pajtler KW,Hirsch S,Wieland I,Deubzer H,Rossi R,Driever PH,von Hoff K,von Zezschwitz B

关键词: DICER1 mutant CNS sarcoma; DNA methylation profiling; NRAS; neural crest cell; neurocutaneous melanosis; pseudo-meissnerian corpuscle; DICER1 mutant CNS sarcoma; DNA methylation profiling; NRAS; neural crest cell; neurocutaneous melanosis; pseudo-meissnerian corpuscle

Mesh: Child; DEAD-box RNA Helicases; GTP Phosphohydrolases; Humans; Magnetic Resonance Imaging; Melanosis / genetics; Membrane Proteins; Neural Crest; Neurocutaneous Syndromes / genetics; Ribonuclease III / genetics; Sarcoma; Child; DEAD-box RNA Helicases; GTP Phosphohydrolases; Humans; Magnetic Resonance Imaging; Melanosis / genetics; Membrane Proteins; Neural Crest; Neurocutaneous Syndromes / genetics; Ribonuclease III / genetics; Sarcoma

Abstract

NUUL