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Raman Spectroscopy of Blood Serum for Essential Thrombocythemia Diagnosis: Correlation with Genetic Mutations and Optimization of Laser Wavelengths

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Abstract

Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm that increases the risk of thrombosis. To diagnose this disease, the analysis of mutations in the Janus Kinase 2 (JAK2), thrombopoietin receptor (MPL), or calreticulin (CALR) gene is recommended. Disease poses diagnostic challenges due to overlapping mutations with other neoplasms and the presence of triple-negative cases. This study explores the potential of Raman spectroscopy combined with machine learning for ET diagnosis. We assessed two laser wavelengths (785, 1064 nm) to differentiate between ET patients and healthy controls. The PCR results indicate that approximately 50% of patients in our group have a mutation in the JAK2 gene, while only 5% of patients harbor a mutation in the ASXL1 gene. Additionally, only one patient had a mutation in the IDH1 and one had a mutation in IDH2 gene. Consequently, patients having no mutations were also observed in our group, making diagnosis challenging. Raman spectra at 1064 nm showed lower amide, polysaccharide, and lipid vibrations in ET patients, while 785 nm spectra indicated significant decreases in amide II and C-H lipid vibrations. Principal Component Analysis (PCA) confirmed that both wavelengths could distinguish ET from healthy subjects. Support Vector Machine (SVM) analysis revealed that the 800–1800 cm−1 range provided the highest diagnostic accuracy, with 89% for 785 nm and 72% for 1064 nm. These findings suggest that FT-Raman spectroscopy, paired with multivariate and machine learning analyses, offers a promising method for diagnosing ET with high accuracy by detecting specific molecular changes in serum. Principal Component Analysis (PCA) confirmed that both wavelengths could distinguish ET from healthy subjects. Support Vector Machine (SVM) analysis revealed that the 800–1800 cm−1 range provided the highest diagnostic accuracy, with 89% for 785 nm and 72% for 1064 nm. These findings suggest that FT-Raman spectroscopy, paired with multivariate and machine learning analyses, offers a promising method for diagnosing ET with high accuracy by detecting specific molecular changes in serum.

Highlights

  • Mutations in the JAK2 gene are present in 50% of patients, while mutations in the ASXL1, IDH1, and IDH2 genes are present in 5, 1.2 and 1.2% of patients.

  • A strong correlation to the mutations in JAK2, ASXL1 and IDH1 genes.

  • The accuracy of the 785 nm laser was 89%, while that of the 1064 nm laser was 66%.

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Data Availability

Data is provided within the manuscript or supplementary information files

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Authors and Affiliations

  1. Department of Internal Medicine, Division of Medical Genetics Turkey, Istanbul University, Istanbul Faculty of Medicine, Elazıg, Turkey

    Aynur Aday & Ayşe Gül Bayrak

  2. Department of Air Traffic Control, School of Aviation, Fırat University, 23119, Elazıg, Turkey

    Suat Toraman

  3. Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Hematology Turkey, Istanbul University, Elazıg, Turkey

    İpek Yönal Hindilerden & Meliha Nalçacı

  4. Institute of Nuclear Physics, PAS, 31342, Krakow, Poland

    Joanna Depciuch

  5. Department of Biochemistry and Molecular Biology, Medical University of Lublin, 20-093, Lublin, Poland

    Joanna Depciuch

  6. Institute of Physics, University of Rzeszow, 35-959, Rzeszow, Poland

    Jozef Cebulski

  7. Faculty of Medicine, Department of Physiology, Gaziantep University of Islam Science and Technology, Gaziantep, Turkey

    Zozan Guleken

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  1. Aynur Aday
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  2. Ayşe Gül Bayrak
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  4. İpek Yönal Hindilerden
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  5. Meliha Nalçacı
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  8. Zozan Guleken
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Contributions

Aynur Aday: Data curation, Investigation, Writing – original draft. Ayşe Gül Bayrak: Data curation. Suat Toraman: Data curation İpek Yönal Hindilerden& Meliha Nalçacı: Conceptualization, Writing – review & editing. Joanna Depciuch&Jozef Cebulski&Zozan Guleken: Data curation, Investigation, Writing – review & editing and Supervision.

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Correspondence to Joanna Depciuch, Jozef Cebulski or Zozan Guleken.

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Aday, A., Bayrak, A.G., Toraman, S. et al. Raman Spectroscopy of Blood Serum for Essential Thrombocythemia Diagnosis: Correlation with Genetic Mutations and Optimization of Laser Wavelengths. Cell Biochem Biophys (2024). https://doi.org/10.1007/s12013-024-01333-6

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