# 1H NMR-Based Metabolomics in Pediatric Acute Lymphoblastic Leukemia: A Pilot Study of Plasma and Cerebrospinal Fluid Profiles

**Authors:** Agata Serrafi, Małgorzata Pupek, Łukasz Lewandowski, Anna Janicka-Kłos, Andrzej Wasilewski, Adrian Kasprzak, Agnieszka Matera-Witkiewicz, Tomasz Zatoński, Katarzyna Połtyn-Zaradna, Milena Ściskalska, Tomasz Brutkowski, Bernarda Kazanowska

PMC · DOI: 10.3390/metabo16030160 · Metabolites · 2026-02-28

## TL;DR

This pilot study used 1H NMR to compare metabolic profiles in plasma and cerebrospinal fluid from children with ALL and controls, identifying potential biomarkers and metabolic changes.

## Contribution

The study introduces 1H NMR-based metabolomics as a novel approach to explore metabolic reprogramming in pediatric ALL.

## Key findings

- ALL patients had elevated formate, citrate, and GPC in plasma compared to controls.
- Glutamine and myo-inositol levels were reduced in ALL patients' plasma.
- Metabolic differences were observed in CSF compared to plasma for several amino acids and metabolites.

## Abstract

Background/Objectives: This pilot study aimed to evaluate the metabolic profiles in plasma and cerebrospinal fluid (CSF) of 14 patients with acute lymphoblastic leukemia (ALL) and plasma of a control group, using proton magnetic resonance spectroscopy (1H NMR). Methods: Multivariate analysis, including orthogonal partial least-squares discriminant analysis (OPLS-DA), was used to analyze the metabolome composition. Results: Significant differences in plasma metabolic profiles were found between the ALL and control groups. We detected elevated levels of formate, citrate, and glycerophosphocholine (GPC), along with decreased concentrations of glutamine and myo-inositol. The OPLS-DA model showed stability, with R2Y = 69.7% and Q2 = 45.15%. Additionally, we observed differences in chemical shifts for leucine, myo-inositol, alanine, phenylalanine, and valine between CSF and plasma in patients with ALL. Conclusions: Our findings suggest that metabolomic analysis with 1H NMR is a promising tool for identifying potential molecular biomarkers and for deepening our understanding of metabolic reprogramming in pediatric ALL. The observed metabolic differences highlight the potential involvement of the central nervous system in the disease’s pathophysiology.

## Linked entities

- **Chemicals:** formate (PubChem CID 283), citrate (PubChem CID 31348), glycerophosphocholine (PubChem CID 11234), glutamine (PubChem CID 738), myo-inositol (PubChem CID 892), leucine (PubChem CID 857), alanine (PubChem CID 239), phenylalanine (PubChem CID 994), valine (PubChem CID 1182)
- **Diseases:** acute lymphoblastic leukemia (MONDO:0004967), ALL (MONDO:0004967)

## Full-text entities

- **Genes:** MME (membrane metalloendopeptidase) [NCBI Gene 4311] {aka CALLA, CD10, CMT2T, NEP, SCA43, SFE}, CD19 (CD19 molecule) [NCBI Gene 930] {aka B4, CVID3}, PKM (pyruvate kinase M1/2) [NCBI Gene 5315] {aka CTHBP, HEL-S-30, OIP3, PK3, PKM2, TCB}, MTOR (mechanistic target of rapamycin kinase) [NCBI Gene 2475] {aka FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS}
- **Diseases:** CNS disease (MESH:D002493), anemia (MESH:D000740), leukopenia (MESH:D007970), toxicity (MESH:D064420), carcinogenesis (MESH:D063646), Leukemia (MESH:D007938), Acute leukemias (MESH:D015470), injury to (MESH:D014947), leukocytosis (MESH:D007964), B (MESH:D006509), thrombocytopenia (MESH:D013921), inflammatory (MESH:D007249), B-cell acute lymphoblastic leukemia (MESH:D015456), hematologic malignancies (MESH:D019337), ALL (MESH:D054198), cancer (MESH:D009369), chronic leukemias (MESH:D015451)
- **Chemicals:** lipid (MESH:D008055), 2-hydroxybutyrate (MESH:C031570), deuterium (MESH:D003903), EDTA (MESH:D004492), arginine (MESH:D001120), uridine diphosphate-glucose (MESH:D014532), ketone bodies (MESH:D007657), Myo-inositol (MESH:D007294), Scyllo-inositol (MESH:C009217), glutamine (MESH:D005973), BCAAs (MESH:D000597), 13C (MESH:C000615229), lactate (MESH:D019344), acetone (MESH:D000096), FDG (MESH:D019788), TCA (MESH:D014233), 1H (-), creatine (MESH:D003401), GABA (MESH:D005680), beta-hydroxybutyrate (MESH:D020155), phenylalanine (MESH:D010649), calcium (MESH:D002118), Alanine (MESH:D000409), guanosine monophosphate (MESH:D006157), citrate (MESH:D019343), D2O (MESH:D017666), tyrosine (MESH:D014443), Glucose (MESH:D005947), nucleotide (MESH:D009711), formate (MESH:C030544), acetate (MESH:D000085), glycine (MESH:D005998), Water (MESH:D014867), sugars (MESH:D000073893), lithium (MESH:D008094), histidine (MESH:D006639), Choline (MESH:D002794), amino acid (MESH:D000596), phospholipid (MESH:D010743), leucine (MESH:D007930), Valine (MESH:D014633), histamine (MESH:D006632), GPC (MESH:D005997), uric acid (MESH:D014527), phosphocholine (MESH:D010767), isobutyrate (MESH:D058610), acetoacetate (MESH:C016635), isoleucine (MESH:D007532), creatinine (MESH:D003404), lysine (MESH:D008239), citrulline (MESH:D002956)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

57 references — full list in the complete paper: https://tomesphere.com/paper/PMC13027993/full.md

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Source: https://tomesphere.com/paper/PMC13027993