Quantitative detection of T315I mutations of BCR::ABL1 using digital droplet polymerase chain reaction

• DOI: 10.1016/j.htct.2023.12.007
• Publication Date: 2024-02-18T00:15:20Z
• Authors: Huijun Mu; Jian Zou; Haiping Zhang
• Keywords: Philadelphia chromosome

T315I mutations of the BCR::ABL1 gene lead to resistance tyrosine kinase inhibitors (TKIs). This study evaluated performance digital droplet polymerase chain reaction (ddPCR) in quantifying and their frequency Philadelphia chromosome (Ph) positive hematological patients. The course disease fusion transcripts (e13a2, e14a2 e1a2) were retrospectively reviewed 21 patients with acute lymphoblastic leukemia (ALL) 85 chronic myeloid (CML). mutation analysis was carried out using ddPCR limit detection assessed mutant DNA at varying variant allele fractions. found two ALL one CML patient without remission molecular biology burdens 29.20%, 40.85%, 3.00%, respectively. burden higher than that patients, but there no significant difference between (p-value = 0.0536). test's 0.02% a correlation coefficient greater 0.99 expected actual abundances. have high incidence Ph-positive even if is short. In biology, indicated for not remission.