Circulating microRNA signatures for diagnosis and prediction of
curve progression in pediatric patients with idiopathic
scoliosis

J 2026

Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis

ORLÍČKOVÁ, Jana; Michael LUJC; Michal GALKO; Dagmar AL TUKMACHI; Ondřej SLABÝ et al.

Základní údaje

Originální název

Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis

Autoři

ORLÍČKOVÁ, Jana ; Michael LUJC; Michal GALKO ; Dagmar AL TUKMACHI; Ondřej SLABÝ a Martin REPKO

Vydání

JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH, LONDON, BMC, 2026, 1749-799X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30211 Orthopaedics

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.800 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Idiopathic scoliosis; Progression risk; MicroRNA profiling; NGS; Biomarker study

Štítky

14110217, 14110513

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 8. 4. 2026 13:32, Mgr. Tereza Miškechová

Anotace

V originále

BackgroundIdiopathic scoliosis (IS) is the most common pediatric spinal deformity, yet no biomarker currently enables early diagnosis or reliable prediction of progression to guide individualized treatment. Circulating microRNAs (miRNAs) are promising non-invasive biomarkers reflecting multifactorial disease mechanisms. MethodsIn our prospective monocentric study, a Czech cohort comprising 114 pediatric IS patients at the time of diagnosis and 89 age-matched healthy controls was studied. Risk groups were defined based on the final Cobb angle at the end of follow-up at skeletal maturity. Plasma miRNA profiles were obtained by small RNA sequencing and analyzed for differential expression. Logistic regression models were used to construct miRNA diagnostic and prognostic signatures, validated by leave-one-out cross-validation (LOOCV). ResultsDifferential expression analysis identified 48 miRNAs with significantly different expression in the blood plasma of IS patients and controls (adj. p < 0.05), and plasma miR-4451 to have decreased levels in high-risk compared to low- and medium-risk IS patients (adj. p < 0.01). A 28-miRNA diagnostic signature distinguished IS patients from controls with AUC = 0.95 (sensitivity 88%, specificity 92%) and LOOCV accuracy = 0.85. For prognosis, comparison of high-risk versus low/medium-risk patients revealed a 7-miRNA prognostic signature, achieving AUC = 0.83, sensitivity 82%, specificity 74% and LOOCV accuracy = 0.81. Notably, the incorporation of clinical variables such as age or sex did not improve significantly model performance. ConclusionsOur study highlights the clinical utility of miRNA-based models for precise diagnosis and individualized patient management and supports further validation in larger, independent cohorts.

Návaznosti

NU21-08-00521, projekt VaV

Název: Identifikace biomarkerů umožňujících odhad rizika a individualizaci léčby dětských pacientů s juvenilní a adolescentní idiopatickou skoliózou pomocí analýzy časových změn biochemických a molekulárních ukazatelů

Investor: Ministerstvo zdravotnictví ČR, Identifikace biomarkerů umožňujících odhad rizika a individualizaci léčby dětských pacientů s juvenilní a adolescentní idiopatickou skoliózou pomocí analýzy časových změn biochemických a molekulárních ukazatelů, Podprogram 1 - standardní

Citovat

ORLÍČKOVÁ, Jana; Michael LUJC; Michal GALKO; Dagmar AL TUKMACHI; Ondřej SLABÝ a Martin REPKO. Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis. JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH. LONDON: BMC, 2026, roč. 21, č. 1, s. 1-10. ISSN 1749-799X. Dostupné z: https://doi.org/10.1186/s13018-025-06614-1.

@article{2565472,
   author = {Orlíčková, Jana and Lujc, Michael and Galko, Michal and Al Tukmachi, Dagmar and Slabý, Ondřej and Repko, Martin},
   article_location = {LONDON},
   article_number = {1},
   doi = {https://doi.org/10.1186/s13018-025-06614-1},
   keywords = {Idiopathic scoliosis; Progression risk; MicroRNA profiling; NGS; Biomarker study},
   language = {eng},
   issn = {1749-799X},
   journal = {JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH},
   title = {Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis},
   url = {https://link.springer.com/article/10.1186/s13018-025-06614-1},
   volume = {21},
   year = {2026}
}

TY  - JOUR
ID  - 2565472
AU  - Orlíčková, Jana - Lujc, Michael - Galko, Michal - Al Tukmachi, Dagmar - Slabý, Ondřej - Repko, Martin
PY  - 2026
TI  - Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis
JF  - JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
VL  - 21
IS  - 1
SP  - 1-10
EP  - 1-10
PB  - BMC
SN  - 1749799X
KW  - Idiopathic scoliosis
KW  - Progression risk
KW  - MicroRNA profiling
KW  - NGS
KW  - Biomarker study
UR  - https://link.springer.com/article/10.1186/s13018-025-06614-1
N2  - BackgroundIdiopathic scoliosis (IS) is the most common pediatric spinal deformity, yet no biomarker currently enables early diagnosis or reliable prediction of progression to guide individualized treatment. Circulating microRNAs (miRNAs) are promising non-invasive biomarkers reflecting multifactorial disease mechanisms. MethodsIn our prospective monocentric study, a Czech cohort comprising 114 pediatric IS patients at the time of diagnosis and 89 age-matched healthy controls was studied. Risk groups were defined based on the final Cobb angle at the end of follow-up at skeletal maturity. Plasma miRNA profiles were obtained by small RNA sequencing and analyzed for differential expression. Logistic regression models were used to construct miRNA diagnostic and prognostic signatures, validated by leave-one-out cross-validation (LOOCV). ResultsDifferential expression analysis identified 48 miRNAs with significantly different expression in the blood plasma of IS patients and controls (adj. p < 0.05), and plasma miR-4451 to have decreased levels in high-risk compared to low- and medium-risk IS patients (adj. p < 0.01). A 28-miRNA diagnostic signature distinguished IS patients from controls with AUC = 0.95 (sensitivity 88%, specificity 92%) and LOOCV accuracy = 0.85. For prognosis, comparison of high-risk versus low/medium-risk patients revealed a 7-miRNA prognostic signature, achieving AUC = 0.83, sensitivity 82%, specificity 74% and LOOCV accuracy = 0.81. Notably, the incorporation of clinical variables such as age or sex did not improve significantly model performance. ConclusionsOur study highlights the clinical utility of miRNA-based models for precise diagnosis and individualized patient management and supports further validation in larger, independent cohorts.
ER  -

ORLÍČKOVÁ, Jana; Michael LUJC; Michal GALKO; Dagmar AL TUKMACHI; Ondřej SLABÝ a Martin REPKO. Circulating microRNA signatures for diagnosis and prediction of curve progression in pediatric patients with idiopathic scoliosis. \textit{JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH}. LONDON: BMC, 2026, roč.~21, č.~1, s.~1-10. ISSN~1749-799X. Dostupné z: https://doi.org/10.1186/s13018-025-06614-1.

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