Harrison K Tsai, Mark F Sabbagh, Meagan Montesion, Erik A Williams, Arnaldo Arbini, Daniel R Boué, Emily M Harris, Franziska Wachter, Leslie Grimmett, Andrew E Place, Fabienne Lucas, Valentina Nardi, Annette S Kim, Carlo Brugnara, Barbara Degar, Jessica Pollard, Marian H Harris, Jacob R Bledsoe
Acute promyelocytic leukemia (APL) with variant RARA translocation is linked to over 15 partner genes. Recent publications encompassing six cases have expanded the spectrum of RARA partners to torque teno mini virus (TTMV). This entity is likely under-recognized due to lack of clinician and pathologist familiarity, inability to detect the fusion using routine testing modalities, and informatic challenges in its recognition within next-generation sequencing (NGS) data. We describe a clinicopathologic approach and provide necessary tools to screen and diagnose APL with TTMV::RARA using existing clinical DNA or RNA-based NGS assays, which led to identification of four cases, all without other known cytogenetic/molecular drivers...
May 2, 2024: Modern Pathology