Comprehensive detection of CRLF2 alterations in acute lymphoblastic leukemia: a rapid and accurate novel approach

• DOI: 10.3389/fmolb.2024.1362081
• Publication Date: 2024-02-02T04:40:25Z
• Authors: José Vicente Gil; Alberto Miralles; Sandra de las Heras; Esperanza Such; Gayane Avetisyan; Álvaro Díaz-González; Marta Santiago; Carolina Fuentes; José María Fernández; Pilar Lloret; Irene Navarro; Pau Montesinos; Marta Llop; Eva Barragán
• Keywords: High Resolution Melt; Concomitant

Introduction: Acute lymphoblastic leukemia (ALL) is a prevalent childhood cancer with high cure rate, but poses significant medical challenge in adults and relapsed patients. Philadelphia-like acute (Ph-like ALL) high-risk subtype, approximately half of cases characterized by CRLF2 overexpression frequent concomitant IKZF1 deletions. Methods: To address the need for efficient, rapid, cost-effective detection alterations, we developed novel RT-qPCR technique combining SYBR Green highresolution melting analysis on single plate. Results: The method successfully identified expression, P2RY8::CRLF2 fusions, JAK2 variants, achieving 100% sensitivity specificity. Application this across 61 samples revealed that 24.59% exhibited overexpression, predominantly driven IGH::CRLF2 (73.33%). High Resolution Melting unveiled concurrent or variants 8.19% samples, as well dynamic nature alterations during disease progression. Discussion: Overall, approach provides an accurate identification enabling improved diagnostic facilitating therapeutic decision-making.