Franco, FernandoGonzalez-Rincon, JuliaLavernia, JavierGarcia, Juan F.Martin, PalomaBellas, CarmenPiris, Miguel A.Pedrosa, LuciaMiramon, JoseGomez-Codina, JoseRodriguez-Abreu, DelvysMachado, IsidroIllueca, CarmenAlfaro, JesusProvencio, MarianoSanchez-Beato, Margarita2023-02-122023-02-122017-11-28http://hdl.handle.net/10668/19446Primary breast lymphoma is a rare form of extra-nodal lymphoid neoplasm. The most common histological type is the diffuse large B-cell lymphoma, which represents 60-80% of all the cases. Our study analyzes the mutational profile of the primary lymphoma of the breast through targeted massive sequencing with a panel of 38 genes in a group of 17 patients with primary breast diffuse large B-cell lymphoma. Seventy-point-five percent of the patients presented with stage IE and 29.5% with stage IIE. 44% of the cases correspond to lymphomas with germinal center phenotype and 33.3% to activated B-cell. The genes with a higher mutational frequency include PIM1 (in 50% of the analyzed samples), MYD88 (39%), CD79B, PRDM1 and CARD11 (17%), KMT2D, TNFIAP3 and CREBBP (11%). The profile of mutant genes involves mostly the NF kappa B signaling pathway. The high frequency of mutations in PIM1 compared with other lymphomas may have implications in the clinical presentation and evolution of this type of lymphoma.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/primary breast lymphomadiffuse large B-cell lymphomacell of originNFkB pathwayPIM1Prognostic-factorsClinical-trialCard11MalignanciesExpressionresearch articleopen access10.18632/oncotarget.219861949-2553http://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=21986&path%5B%5D=69695419562500014