Luciana Impera

TL;DR: Known DNA sequences and structural features were mapped along the breakpoint cluster regions, including heptamer recombination signal sequences recognized by RAG enzymes during V(D)J recombination, suggesting that IKZF1 deletions could arise from aberrant RAG-mediated recombination.

TL;DR: Inactivation of the 9p21 locus by genomic deletion is a frequent event in BCR-ABL1–positive acute lymphoblastic leukemia and are a poor prognostic marker of long-term outcomes.

TL;DR: In the authors' hands, the Nanopore technology shows correlation with Sanger sequencing but more sensitive, manageable and less expensive, and therefore has proven to be a useful tool for TP53 gene mutation detection.

TL;DR: Two chimeric transcripts identified in AML translocation cases involving CBFA2T2 (core-binding factor, runt domain, α subunit; translocated to, 2), an ETO homologous gene on chromosome 20, and C20orf112 are characterized.

TL;DR: The ddPCR method has a sufficient analytical performance for very low MRD monitoring and for predicting molecular relapse several months before hematologic relapse, and may better stratify Ph+ ALL patients at risk of disease progression.