范可尼贫血患者的LINE-1逆转录因子激活和神经炎症。

IF 2.3 3区医学 Q2 HEMATOLOGY

Pediatric Blood & Cancer Pub Date : 2025-09-25 DOI:10.1002/pbc.32081

Allison L Bartlett, Kristie N Ramos, Jamen R Bartlett, Kenneth S Ramos, Nathan Luebbering, Kasiani C Myers, Parinda A Mehta, Stella M Davies

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引用次数: 0

摘要

我们描述了对两名患有范可尼贫血神经炎症综合征（FANS）的年轻人的脑病变活检进行的首次免疫组织化学分析。我们发现LINE-1反转录转座子的异常激活是血液系统疾病患者神经炎症的新机制。与无fan的FA患者脑组织相比，炎性病变活检组织中的LINE-1 ORF-1蛋白表达上调，并且显示出先天免疫反应的激活，STING和IFI6表达增加。血液学家的意识是至关重要的，因为这种情况在临床和放射学上都可以模仿侵袭性脑肿瘤，并且提出的机制具有重要的治疗意义。

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LINE-1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia.

We describe the first immunohistochemical analysis performed on brain lesion biopsies from two young individuals with Fanconi anemia neuroinflammatory syndrome (FANS). We identified aberrant activation of the LINE-1 retrotransposon as a novel mechanism of neuroinflammation in individuals with hematological disorders. LINE-1 ORF-1 protein is upregulated in biopsies of inflammatory lesions compared to brain tissue from persons with FA without FANS, and shows activation of an innate immune response with increased STING and IFI6 expression. Awareness among hematologists is vital, as this condition can mimic an aggressive brain tumor both clinically and radiographically, and the proposed mechanism has meaningful therapeutic implications.

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来源期刊

Pediatric Blood & Cancer 医学-小儿科

CiteScore

4.90

自引率

9.40%

发文量

546

审稿时长

1.5 months

期刊介绍： Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.