Challenging Conventional Diagnostic Methods by Comprehensive Molecular Diagnostics: A Nationwide Prospective Comparison in Children With ALL.

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Tác giả: Judith M Boer, Arjan Buijs, Valérie de Haas, Monique L den Boer, Jayne Y Hehir-Kwa, Lennart A Kester, Marco J Koudijs, Rob Pieters, Simone Snijder, Edwin Sonneveld, Bastiaan B J Tops, Inge M van der Sluis, Esme Waanders

Ngôn ngữ: eng

Ký hiệu phân loại: 370.1523 Philosophy and theory, education for specific objectives, educational psychology

Thông tin xuất bản: United States : JCO precision oncology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 728659

 PURPOSE: Treatment stratification in ALL includes diverse (cyto)genetic aberrations, requiring diverse tests to yield conclusive data. We optimized the diagnostic workflow to detect all relevant aberrations with a limited number of tests in a clinically relevant time frame. METHODS: In 467 consecutive patients with ALL (0-20 years), we compared RNA sequencing (RNAseq), fluorescence in situ hybridization (FISH), reverse transcriptase polymerase chain reaction (RT-PCR), karyotyping, single-nucleotide polymorphism (SNP) array, and multiplex ligation-dependent probe amplification (MLPA) for technical success, concordance of results, and turnaround time. RESULTS: To detect stratifying fusions ( CONCLUSION: Combining RNAseq and SNP array outperformed current diagnostic tools to detect all stratifying genetic aberrations in ALL. The turnaround time is <
 15 days matching major treatment decision time points. Moreover, combining RNAseq and SNP array has the advantage of detecting new lesions for studies on prognosis and pathobiology.
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