Mutational profile of primary breast diffuse large B-cell lymphoma

Abstract

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 <i>PIM1</i> (in 50% of the analyzed samples), <i>MYD88</i> (39%), <i>CD79B, PRDM1</i> and <i>CARD11</i> (17%), <i>KMT2D</i>, <i>TNFIAP3</i> and <i>CREBBP</i> (11%). The profile of mutant genes involves mostly the NFκB signaling pathway. The high frequency of mutations in <i>PIM1</i> compared with other lymphomas may have implications in the clinical presentation and evolution of this type of lymphoma.