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<p>Ph-like ALL is a high-risk subtype with diverse genomic alterations, including CRLF2 rearrangements, JAK2/EPOR mutations, and ABL-class fusions, which are targetable but underdiagnosed in low and middle-income countries (LMICs). This meta-analysis (78 studies, 15,201 patients, 42 countries) highlights disparities in detection and outcomes between high-income countries (HICs) and LMICs. HICs use comprehensive profiling (RNA-seq: 90–95% sensitivity), while LMICs rely on limited FISH/qPCR, detecting only 30–50% of cases due to cost barriers ($1200 vs. $15–42 for LMIC-adapted assays), infrastructure gaps, and delayed turnaround (4–6&#xa0;weeks vs. &lt; 7&#xa0;days). CRLF2 rearrangements are found in 50–60% of cases in HMICs vs. 20–30% in LMICs (p &lt; 0.001), while ABL-class fusions are missed in 75% of LMIC patients. Undiagnosed Ph-like ALL correlates with worse survival (5-year OS: 35–45% in LMICs vs. 60–65% in HICs) due to chemotherapy overuse instead of TKIs (e.g., dasatinib improves EFS by 30%). A tiered diagnostic approach, initial CRLF2 flow cytometry ($15, 80% sensitivity), confirmatory PHi-RACE PCR ($42, 95.2% sensitivity), and selective NGS referral could bridge 85% of the detection gap at 90% cost reduction. Cost-effective tools, subsidized NGS networks, workforce training, and WHO-endorsed guidelines could prevent 40–50% of relapses in LMICs.</p>

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A meta-analysis of diagnostic challenges in Ph-like ALL at baseline: early detection strategies for personalized therapeutic interventions

  • 期刊论文

  • 发表日期：

    2025年10月17日

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  • Abdulrahman S. Bahashwan

摘要

Ph-like ALL is a high-risk subtype with diverse genomic alterations, including CRLF2 rearrangements, JAK2/EPOR mutations, and ABL-class fusions, which are targetable but underdiagnosed in low and middle-income countries (LMICs). This meta-analysis (78 studies, 15,201 patients, 42 countries) highlights disparities in detection and outcomes between high-income countries (HICs) and LMICs. HICs use comprehensive profiling (RNA-seq: 90–95% sensitivity), while LMICs rely on limited FISH/qPCR, detecting only 30–50% of cases due to cost barriers ($1200 vs. $15–42 for LMIC-adapted assays), infrastructure gaps, and delayed turnaround (4–6 weeks vs. < 7 days). CRLF2 rearrangements are found in 50–60% of cases in HMICs vs. 20–30% in LMICs (p < 0.001), while ABL-class fusions are missed in 75% of LMIC patients. Undiagnosed Ph-like ALL correlates with worse survival (5-year OS: 35–45% in LMICs vs. 60–65% in HICs) due to chemotherapy overuse instead of TKIs (e.g., dasatinib improves EFS by 30%). A tiered diagnostic approach, initial CRLF2 flow cytometry ($15, 80% sensitivity), confirmatory PHi-RACE PCR ($42, 95.2% sensitivity), and selective NGS referral could bridge 85% of the detection gap at 90% cost reduction. Cost-effective tools, subsidized NGS networks, workforce training, and WHO-endorsed guidelines could prevent 40–50% of relapses in LMICs.