RT Journal Article T1 Mutational profile of primary breast diffuse large B-cell lymphoma A1 Franco, Fernando A1 Gonzalez-Rincon, Julia A1 Lavernia, Javier A1 Garcia, Juan F. A1 Martin, Paloma A1 Bellas, Carmen A1 Piris, Miguel A. A1 Pedrosa, Lucia A1 Miramon, Jose A1 Gomez-Codina, Jose A1 Rodriguez-Abreu, Delvys A1 Machado, Isidro A1 Illueca, Carmen A1 Alfaro, Jesus A1 Provencio, Mariano A1 Sanchez-Beato, Margarita K1 primary breast lymphoma K1 diffuse large B-cell lymphoma K1 cell of origin K1 NFkB pathway K1 PIM1 K1 Prognostic-factors K1 Clinical-trial K1 Card11 K1 Malignancies K1 Expression AB Primary 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. PB Impact journals llc YR 2017 FD 2017-11-28 LK http://hdl.handle.net/10668/19446 UL http://hdl.handle.net/10668/19446 LA en DS RISalud RD Apr 19, 2025