导读
- 错配修复缺陷（MMRd）胶质母细胞瘤复发时，可获得第二击 SMARCB1 突变，并伴随 SMARCB1/INI1 蛋白完全丢失。
- 获得性 SMARCB1 缺陷可能是 MMRd 胶质母细胞瘤的进展相关事件，也可造成诊断陷阱（复发灶看起来像 SMARCB1 缺陷型肿瘤）。
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收录范围：PubMed / Crossref 摘要中英对照。原文标示 CC BY 4.0，但 Wiley 对本站出口持续 Cloudflare 挑战，未获全文与图表。
摘要
一例错配修复缺陷型胶质母细胞瘤在复发时获得第二次 SMARCB1 突变，并伴 SMARCB1 蛋白表达完全缺失。获得性 SMARCB1 缺陷可能代表错配修复缺陷型胶质母细胞瘤的进展相关事件，并构成诊断陷阱。
In brief
- A mismatch repair-deficient glioblastoma acquired a second SMARCB1 mutation with complete loss of SMARCB1/INI1 protein at recurrence.
- Acquired SMARCB1 deficiency may be a progression-associated event in MMRd glioblastoma and a diagnostic pitfall.
- Marked CC BY 4.0, but Wiley remained behind Cloudflare from this egress; bilingual abstract only.
Scope: PubMed / Crossref abstract. The article is marked CC BY 4.0, but Wiley remained behind Cloudflare from this egress; full text and figures were not obtained.
Abstract
A mismatch repair-deficient glioblastoma acquired a second SMARCB1 mutation with complete loss of SMARCB1 protein expression at recurrence. Acquired SMARCB1 deficiency may represent a progression-associated event in mismatch repair-deficient glioblastoma and constitute a diagnostic pitfall.