Screening for neurodegeneration in Langerhans cell histiocytosis with neurofilament light in plasma

Malin Sveijer; Tatiana von Bahr Greenwood; Martin Jädersten; Egle Kvedaraite; Henrik Zetterberg; Kaj Blennow; Magda Lourda; Désirée Gavhed; Jan-Inge Henter

doi:10.1111/bjh.18247

Screening for neurodegeneration in Langerhans cell histiocytosis with neurofilament light in plasma

Br J Haematol. 2022 Aug;198(4):721-728. doi: 10.1111/bjh.18247. Epub 2022 May 17.

Authors

Malin Sveijer^{1

2}, Tatiana von Bahr Greenwood^{1

3}, Martin Jädersten^{4

5}, Egle Kvedaraite^{1

6

7}, Henrik Zetterberg^{8

9

10

11

12}, Kaj Blennow^{8

9}, Magda Lourda^{1

6}, Désirée Gavhed^{1

3}, Jan-Inge Henter^{1

3}

Affiliations

¹ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
² Department of Pediatrics, Eskilstuna Hospital, Eskilstuna, Sweden.
³ Pediatric Oncology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
⁴ Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, Stockholm, Sweden.
⁵ Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.
⁶ Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Stockholm, Sweden.
⁷ Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Laboratory, Stockholm, Sweden.
⁸ Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
⁹ Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
¹⁰ UK Dementia Research Institute at UCL, London, UK.
¹¹ Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
¹² Hong Kong Center for Neurodegenerative Diseases, Hong Kong, China.

Abstract

Patients with Langerhans cell histiocytosis (LCH) may develop progressive neurodegeneration in the central nervous system (ND-CNS-LCH). Neurofilament light protein (NFL) in cerebrospinal fluid (CSF) is a promising biomarker to detect and monitor ND-CNS-LCH. We compared paired samples of NFL in plasma (p-NFL) and CSF in 10 patients (19 samples). Nine samples had abnormal CSF-NFL (defined as ≥380 ng/l) with corresponding p-NFL ≥ 2 ng/l. Ten samples had CSF-NFL < 380 ng/l; eight (80%) with p-NFL < 2 ng/l (p < 0.001; Fisher's exact test). Thus, our results suggest that p-NFL may be used to screen for ND-CNS-LCH. Further studies are encouraged, including the role of p-NFL for monitoring of ND-CNS-LCH.

Keywords: Langerhans cell histiocytosis; central nervous system (CNS); neurodegeneration; neurofilament light chain protein (NFL).

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers
Cognitive Dysfunction*
Histiocytosis, Langerhans-Cell* / diagnosis
Humans
Intermediate Filaments
Neurofilament Proteins / cerebrospinal fluid

Substances

Biomarkers
Neurofilament Proteins

Grants and funding

R01 AG068398/AG/NIA NIH HHS/United States