Rare t(X;14)(q28;q32) translocation reveals link between MTCP1 and chronic lymphocytic leukemia

• DOI: 10.1038/s41467-021-26400-x
• Publication Date: 2021-11-05T14:10:44Z
• Authors: Janek S. Walker; Zachary A. Hing; Steven Sher; James Cronin; Katie Williams; Bonnie Harrington; Jordan N. Skinner; Casey B. Cempre; Charles T. Gregory; Alexander Pan; Max Yano; Larry P. Beaver; Brandi R. Walker; Jadwiga M. Labano...; Nyla A. Heerema; Krzysztof Mrózek; Jennifer A. Woyach; Amy S. Ruppert; Amy Lehman; Hatice Gulcin Ozer; Vincenzo Coppola; Pearlly Yan; John C. Byrd; James S. Blachly; Rosa Lapalombella
• Keywords: Link (geometry)

Abstract Rare, recurrent balanced translocations occur in a variety of cancers but are often not functionally interrogated. Balanced with the immunoglobulin heavy chain locus ( IGH ; 14q32) chronic lymphocytic leukemia (CLL) infrequent have led to discovery pathogenic genes including CCND1 , BCL2 and BCL3 . Following identification t(X;14)(q28;q32) translocation that placed mature T cell proliferation 1 gene MTCP1 ) adjacent CLL patient, we hypothesized this may previously unrecognized importance. Indeed, here report overexpression human restricted B compartment mice produces clonal CD5 + /CD19 recapitulating major characteristics demonstrates favorable response therapeutic intervention ibrutinib. We reinforce importance genetic interrogation rare, identify cancer driving via story as contributor pathogenesis.