体细胞FANCD2突变(c.2022-5C>T)作为慢性髓系白血病早期疾病进展的新型分子生物标志物的临床验证：一项病例对照研究

数据集获取（Figshare）

• 源站标题：<b>Supplementary Table 1 for “Clinical Validation of somatic FANCD2 Mutation (c.2022-5C>T) as a Novel Molecular Biomarker for Early Disease Progression in Chronic Myeloid Leukemia: A Case-Control </b><b>Study</b><b>”</b>
• DOI：10.6084/m9.figshare.25957204.v2
• 发布日期：2024-06-03
• 文件数：1 个
• 文件总体积：13.74 KB
• 源站页面：https://figshare.com/articles/dataset/_b_Clinical_Validation_of_somatic_FANCD2_Mutation_c_2022-5C_T_as_a_Novel_Molecular_Biomarker_for_Early_Disease_Progression_in_Chronic_Myeloid_Leukemia_A_Case-Control_b_b_Study_b_/25957204

命令行下载

curl -L -o "FANCD2 NGS.xlsx" "https://ndownloader.figshare.com/files/46774387"

文件清单

• FANCD2 NGS.xlsx（13.74 KB）

文件总体积 13.74 KB（源站 API 实测）。

数据说明

Chronic myeloid leukemia (CML) results from chromosomal translocation t(9;22) leading to the formation of the BCR-ABL fusion oncogene. CML has three stages: chronic phase (CP), accelerated phase (AP), and blast crisis (BC). Tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of CML. TKIs work well in CP-CML, and these patients have a survival rate similar to the normal population, but TKIs are less effective in advanced-phase CML. Even with current advances in treatment, BC-CML patients have an average overall survival of less than a year. Early recognition of CML patients at risk of disease progression can help in timely interventions with appropriate TKIs or other therapeutic modalities.
Although some markers of disease progression, like BCR-ABL kinase domain mutations, ASXL1, and GATA2 mutations are available, no universal and exclusively specific molecular biomarkers exist to early diagnose CML patients at risk of CML progression for timely therapeutic interventions to delay or minimize fatal blast crisis transformation in CML (BC-CML). A recent study found that all BC-CML patients harbored mutant FANCD2 (c.2022-5C>T). Therefore, the current study was designed to detect this FANCD2 mutant in AP-CML (early progression phase) and to clinically validate its potential as a novel molecular biomarker of early CML progression from CP to AP. Our study comprised 123 CP-CML (control group) and 60 AP-CML patients (experimental group) from King Abdulaziz National Guard Hospital, Al-Ahsa, Saudi Arabia, from Jan 2020 to July 2023. Mean hemoglobin level, WBC count, platelet count, treatment type, hepatomegaly, splenomegaly, and survival status of AP-CML patients were significantly different from those of CP-CML patients. However, as these clinical parameters cannot help in the early detection of patients at risk of CML progression, there was a need for a clinically validated biomarker of AP-CML.
DNA was extracted from the patients’ blood samples, and the FANCD2 gene was sequenced using Illumina NextSeq500 next-generation sequencer (NGS). NGS analysis revealed a unique splice site mutation in the FANCD2 gene (c.2022-5C>T). This mutation was detected in the m

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CC BY 4.0

引用

学术使用请引用 DOI 10.6084/m9.figshare.25957204.v2（source: https://figshare.com/articles/dataset/_b_Clinical_Validation_of_somatic_FANCD2_Mutation_c_2022-5C_T_as_a_Novel_Molecular_Biomarker_for_Early_Disease_Progression_in_Chronic_Myeloid_Leukemia_A_Case-Control_b_b_Study_b_/25957204）。