August 11, 2025npj Precision OncologyOpen Access

Detection of cytogenetically cryptic PML-RARA fusion in acute promyelocytic leukemia by rapid next generation sequencing

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Clinical case reveals PML-RARA fusion detected by NGS in acute promyelocytic leukemia, suggesting improved diagnostics.

PML-RARA fusion was detected by next generation sequencing in a patient negative by FISH, ensuring timely diagnosis.
Within 48 hours, rapid next generation sequencing enabled the identification of the fusion breakthrough existing diagnostic barriers.
Molecular techniques like next generation sequencing offer a crucial alternative when traditional methods miss diagnosis.
Incorporating rapid NGS may significantly reduce the risk of early death caused by coagulopathy in acute leukemia cases.

Louis et al. (2025) studied this question.

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