Identification and monitoring of atypical PML/RARA fusion transcripts in acute promyelocytic leukemia

We report here the characterization of three APL cases harboring atypicalPML/RARA transcripts, which were not clearly detectable after standard RT ‐PCR amplification. In all three cases, clinical, morphological and immunophenotypic features were consistent with APL. Direct sequencing allowed the identification of atypical breakpoints within thePML andRARA genes. We then designed a patient ‐specific Q‐RT‐PCR for the atypical transcripts, which allowed for specific quantitative evaluation of MRD during follow‐up. Despite the rarity of APL cases with an atypicalPML/RARA fusion, our study indicates that an integrated laboratory approach, employing several diagnostic techniques is crucial to timely diagnose APL. This approach allows prompt initiation of specific targeted treatment and reliable MRD monitoring in atypical APL cases.
Source: Genes, Chromosomes and Cancer - Category: Cancer & Oncology Authors: Tags: RESEARCH ARTICLE Source Type: research