Research Papers:

Mutational profile of primary breast diffuse large B-cell lymphoma

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

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Oncotarget. 2017; 8:102888-102897. https://doi.org/10.18632/oncotarget.21986

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Fernando Franco1,2, Julia González-Rincón3,4, Javier Lavernia2,5, Juan F. García6, Paloma Martín4,7, Carmen Bellas4,7, Miguel A. Piris4,8, Lucia Pedrosa3, José Miramón2,9, José Gómez-Codina2,10, Delvys Rodríguez-Abreu2,11, Isidro Machado12, Carmen Illueca12, Jesús Alfaro2,13, Mariano Provencio1,2,* and Margarita Sánchez-Beato2,3,*

1Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain

2GOTEL (Spanish Lymphoma Oncology Group), Madrid, Spain

3Group of Research in Lymphomas, Medical Oncology Department, Instituto de Investigación Sanitaria Puerta de Hierro-Segovia de Arana, Madrid, Spain

4Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain

5Medical Oncology Department, Instituto Valenciano de Oncología, Valencia, Spain

6Pathology Department, MD Anderson Cancer Center, Madrid, Spain

7Pathology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain

8Pathology Department, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

9Medical Oncology Department, Hospital Serranía de Ronda, Málaga, Spain

10Medical Oncology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain

11Medical Oncology Department, Hospital Universitario Insular de Gran Canaria, Las Palmas, Spain

12Pathology Department, Instituto Valenciano de Oncología, Valencia, Spain

13Medical Oncology Department, Instituto Oncológico de Kutxa, Donostia, Spain

*Joint senior authors

Correspondence to:

Margarita Sánchez-Beato, email: [email protected]

Keywords: primary breast lymphoma; diffuse large B-cell lymphoma; cell of origin; NFkB pathway; PIM1

Received: August 09, 2017     Accepted: October 03, 2017     Published: October 24, 2017


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.

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