Publication:
Mutational profile of primary breast diffuse large B-cell lymphoma

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2017-11-28

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Franco, Fernando
Gonzalez-Rincon, Julia
Lavernia, Javier
Garcia, Juan F.
Martin, Paloma
Bellas, Carmen
Piris, Miguel A.
Pedrosa, Lucia
Miramon, Jose
Gomez-Codina, Jose

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Impact journals llc
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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 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.

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primary breast lymphoma, diffuse large B-cell lymphoma, cell of origin, NFkB pathway, PIM1, Prognostic-factors, Clinical-trial, Card11, Malignancies, Expression

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