Mutational profile of primary breast diffuse large B-cell lymphoma.

Fernando Franco,José Gómez-Codina,Margarita Sánchez-Beato,Isidro Machado,Juan F García,Javier Lavernia,Jesús Alfaro,Carmen Illueca,Paloma Martín,Delvys Rodríguez-Abreu,Lucia Pedrosa,Miguel A Piris,José Miramón,Mariano Provencio,Julia González-Rincón,Carmen Bellas

doi:10.18632/oncotarget.21986

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 NFκB 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.

Highlights

Primary breast lymphoma (PBL) is a rare form of extra-nodal lymphoid neoplasm
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
More than 95% of the cases correspond to B-type nonHodgkin’s lymphomas (NHL) and the most common histopathological type is diffuse large B-cell lymphoma (DLBCL), which represents 60–80% of all the cases

Summary

Introduction

Primary breast lymphoma (PBL) is a rare form of extra-nodal lymphoid neoplasm It represents 1% of nonHodgkin’s lymphomas (NHL) and 2,2% of extra-nodal lymphomas. PBL usually presents as a painless mass of progressive growth with or without ipsilateral axillary lymph nodes and more than 96% of the cases affect to women [1,2,3] It was first described in 1972 by Wiseman and Liao [4], who defined diagnostic criteria, which would be later modified by Hugh et al [5], defining the PBL as the infiltration of breast tissue by lymphoma with or without regional lymph node in patients without a history of prior nodal or extra-nodal lymphoma and systemic disease at the time of diagnosis. To contribute to the knowledge on the mutational landscape of PB-DLBCL

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Conclusion