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

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

doi:10.1002/pbc.32081

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

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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Article number	e32081
Pages (from-to)	e32081
Journal	Pediatric Blood and Cancer
Volume	72
Issue number	12
DOIs	https://doi.org/10.1002/pbc.32081
State	Published - Dec 2025

Keywords

Fanconi
brain
line-1
neuroinflammation
tumor
Young Adult
Long Interspersed Nucleotide Elements/genetics
Humans
Female
Male
Fanconi Anemia/complications
Neuroinflammatory Diseases/pathology

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.32081

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title = "LINE-1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia",

abstract = "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.",

keywords = "Fanconi, brain, line-1, neuroinflammation, tumor, Young Adult, Long Interspersed Nucleotide Elements/genetics, Humans, Female, Male, Fanconi Anemia/complications, Neuroinflammatory Diseases/pathology",

author = "Bartlett, \{Allison L.\} and Ramos, \{Kristie N.\} and Bartlett, \{Jamen R.\} and Ramos, \{Kenneth S.\} and Nathan Luebbering and Myers, \{Kasiani C.\} and Mehta, \{Parinda A.\} and Davies, \{Stella M.\}",

note = "{\textcopyright} 2025 The Author(s). Pediatric Blood \& Cancer published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.",

year = "2025",

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doi = "10.1002/pbc.32081",

language = "English (US)",

volume = "72",

pages = "e32081",

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AU - Bartlett, Allison L.

AU - Ramos, Kristie N.

AU - Bartlett, Jamen R.

AU - Ramos, Kenneth S.

AU - Luebbering, Nathan

AU - Myers, Kasiani C.

AU - Mehta, Parinda A.

AU - Davies, Stella M.

N1 - © 2025 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

PY - 2025/12

Y1 - 2025/12

N2 - 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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KW - brain

KW - line-1

KW - neuroinflammation

KW - tumor

KW - Young Adult

KW - Long Interspersed Nucleotide Elements/genetics

KW - Humans

KW - Female

KW - Male

KW - Fanconi Anemia/complications

KW - Neuroinflammatory Diseases/pathology

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SN - 1545-5009

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SP - e32081

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 12

M1 - e32081

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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