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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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.
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.
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