Mutational profile of primary breast diffuse large B-cell lymphoma
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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
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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