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Objective <p>Myelodysplastic syndromes (MDS) are a diverse group of hematological disorders characterized by ineffective hematopoiesis, cytopenia(s) and risk of transformation to acute myeloid leukemia (AML). Emerging data indicates that the assessment of advanced hematological parameters may be crucial for early diagnosis. Our study was aimed to evaluate novel hematological parameters in MDS patients with risk category and mutation abnormalities.</p> Methods <p>The study comprised 50 patients of MDS, including patients with identified cytogenetic and mutation abnormalities and was conducted at National Institute of Blood Diseases and Bone Marrow Transplantation (NIBD-BMT) Karachi, Pakistan from July 2022 to June 2024. Hematological parameters were analyzed using the Sysmex XN-1000 analyzer. The median and IQR were calculated for quantitative variables and frequency and percentages were calculated for qualitative variables by using SPSS version 25. Seven parameters with IPSS scores were used to develop an ANN model with Multilayer Perceptron (MLP) architecture. The extended neutrophils and monocyte parameters related to granularity and maturity were analyzed.</p> Results <p>MDS patients with increased IPSS showed significant higher median levels of NE-WX, NE-WY, and NE-WZ as compared to those with low IPSS scores. However, mutation correlation revealed increased median of extended neutrophils parameters (NE-WX, NE-WY, NE-WZ) in patients with CEBPA mutation.</p> Conclusion <p>Our findings indicated that the extended CBC parameters can be used as a supplementary tool in the diagnosis of MDS patients with cytogenetic and mutation abnormalities. These findings underscore the potential utility of advanced diagnostic markers in identifying mutation changes enhancing early diagnosis in MDS.</p>

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Research complete blood count parameters associated with myelodysplastic syndromes and underlying mutation abnormalities-experience from Pakistan

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月20日

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  • Areeba Hamid Cheepa,
  • Aisha Arshad,
  • Muhammad Nizamuddin,
  • Laraib Majeed,
  • Nida Anwar

摘要

Objective

Myelodysplastic syndromes (MDS) are a diverse group of hematological disorders characterized by ineffective hematopoiesis, cytopenia(s) and risk of transformation to acute myeloid leukemia (AML). Emerging data indicates that the assessment of advanced hematological parameters may be crucial for early diagnosis. Our study was aimed to evaluate novel hematological parameters in MDS patients with risk category and mutation abnormalities.

Methods

The study comprised 50 patients of MDS, including patients with identified cytogenetic and mutation abnormalities and was conducted at National Institute of Blood Diseases and Bone Marrow Transplantation (NIBD-BMT) Karachi, Pakistan from July 2022 to June 2024. Hematological parameters were analyzed using the Sysmex XN-1000 analyzer. The median and IQR were calculated for quantitative variables and frequency and percentages were calculated for qualitative variables by using SPSS version 25. Seven parameters with IPSS scores were used to develop an ANN model with Multilayer Perceptron (MLP) architecture. The extended neutrophils and monocyte parameters related to granularity and maturity were analyzed.

Results

MDS patients with increased IPSS showed significant higher median levels of NE-WX, NE-WY, and NE-WZ as compared to those with low IPSS scores. However, mutation correlation revealed increased median of extended neutrophils parameters (NE-WX, NE-WY, NE-WZ) in patients with CEBPA mutation.

Conclusion

Our findings indicated that the extended CBC parameters can be used as a supplementary tool in the diagnosis of MDS patients with cytogenetic and mutation abnormalities. These findings underscore the potential utility of advanced diagnostic markers in identifying mutation changes enhancing early diagnosis in MDS.