%0 Journal Article
%A Franco, Fernando
%A Gonzalez-Rincon, Julia
%A Lavernia, Javier
%A Garcia, Juan F.
%A Martin, Paloma
%A Bellas, Carmen
%A Piris, Miguel A.
%A Pedrosa, Lucia
%A Miramon, Jose
%A Gomez-Codina, Jose
%A Rodriguez-Abreu, Delvys
%A Machado, Isidro
%A Illueca, Carmen
%A Alfaro, Jesus
%A Provencio, Mariano
%A Sanchez-Beato, Margarita
%T Mutational profile of primary breast diffuse large B-cell lymphoma
%D 2017
%U http://hdl.handle.net/10668/19446
%X 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.
%K primary breast lymphoma
%K diffuse large B-cell lymphoma
%K cell of origin
%K NFkB pathway
%K PIM1
%K Prognostic-factors
%K Clinical-trial
%K Card11
%K Malignancies
%K Expression
%~