1. Mutational profile of primary breast diffuse large B-cell lymphoma
- Author
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Mariano Provencio, Paloma Martín, José Gómez-Codina, Carmen Bellas, Jesús Alfaro, José Miramón, Fernando Franco, Isidro Machado, Carmen Illueca, Miguel A. Piris, Julia González-Rincón, Margarita Sánchez-Beato, Lucia Pedrosa, Javier Lavernia, Juan F. García, Delvys Rodriguez-Abreu, [Franco, Fernando] Hosp Univ Puerta Hierro, Med Oncol Dept, Madrid, Spain, [Provencio, Mariano] Hosp Univ Puerta Hierro, Med Oncol Dept, Madrid, Spain, [Franco, Fernando] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Lavernia, Javier] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Miramon, Jose] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Gomez-Codina, Jose] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Rodriguez-Abreu, Delvys] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Alfaro, Jesus] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Provencio, Mariano] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Sanchez-Beato, Margarita] GOTEL Spanish Lymphoma Oncol Grp, Madrid, Spain, [Gonzalez-Rincon, Julia] Inst Invest Sanitaria Puerta Hierro Segovia de Ar, Dept Med Oncol, Grp Res Lymphomas, Madrid, Spain, [Pedrosa, Lucia] Inst Invest Sanitaria Puerta Hierro Segovia de Ar, Dept Med Oncol, Grp Res Lymphomas, Madrid, Spain, [Sanchez-Beato, Margarita] Inst Invest Sanitaria Puerta Hierro Segovia de Ar, Dept Med Oncol, Grp Res Lymphomas, Madrid, Spain, [Gonzalez-Rincon, Julia] Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain, [Martin, Paloma] Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain, [Bellas, Carmen] Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain, [Piris, Miguel A.] Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain, [Lavernia, Javier] Inst Valenciano Oncol, Med Oncol Dept, Valencia, Spain, [Garcia, Juan F.] MD Anderson Canc Ctr, Pathol Dept, Madrid, Spain, [Martin, Paloma] Hosp Univ Puerta Hierro, Pathol Dept, Madrid, Spain, [Bellas, Carmen] Hosp Univ Puerta Hierro, Pathol Dept, Madrid, Spain, [Piris, Miguel A.] Hosp Univ Fdn Jimenez Diaz, Pathol Dept, Madrid, Spain, [Miramon, Jose] Hosp Serrania Ronda, Med Oncol Dept, Malaga, Spain, [Gomez-Codina, Jose] Hosp Univ & Politecn La Fe, Med Oncol Dept, Valencia, Spain, [Rodriguez-Abreu, Delvys] Hosp Univ Insular Gran Canaria, Med Oncol Dept, Las Palmas Gran Canaria, Spain, [Machado, Isidro] Inst Valenciano Oncol, Pathol Dept, Valencia, Spain, [Illueca, Carmen] Inst Valenciano Oncol, Pathol Dept, Valencia, Spain, [Alfaro, Jesus] Inst Oncol Kutxa, Med Oncol Dept, Donostia San Sebastian, Spain, Instituto de Salud Carlos III (ISCIII), AES-FEDER (Plan Estatal de I+D+I), ROCHE, iPFIS predoctoral fellowship, Juan Rodes contract from ISCIII-MINECO-AES-FEDER (Plan Estatal I+D+I), Miguel Servet contract from the ISCIII-MINECO-AES-FEDER (Plan Nacional I+D+I), Miguel Servet II contract from ISCIII-MINECO-AES-FEDER (Plan Estatal I+D+I), Spain, Fundacion de Investigacion Biomedica Puerta de Hierro, and Spanish Ministry of Economy and Competence (MINECO)
- Subjects
0301 basic medicine ,Gerontology ,medicine.medical_specialty ,diffuse large B-cell lymphoma ,Expression ,NFkB pathway ,Breast Diffuse Large B-Cell Lymphoma ,03 medical and health sciences ,Primary Breast Lymphoma ,0302 clinical medicine ,hemic and lymphatic diseases ,medicine ,Lymphoid neoplasms ,Malignancies ,Gynecology ,primary breast lymphoma ,Card11 ,Histological type ,business.industry ,Prognostic-factors ,cell of origin ,medicine.disease ,Lymphoma ,PIM1 ,030104 developmental biology ,Oncology ,Clinical-trial ,030220 oncology & carcinogenesis ,Primary lymphoma ,business ,Diffuse large B-cell lymphoma ,Research Paper - Abstract
// Fernando Franco 1, 2 , Julia Gonzalez-Rincon 3, 4 , Javier Lavernia 2, 5 , Juan F. Garcia 6 , Paloma Martin 4, 7 , Carmen Bellas 4, 7 , Miguel A. Piris 4, 8 , Lucia Pedrosa 3 , Jose Miramon 2, 9 , Jose Gomez-Codina 2, 10 , Delvys Rodriguez-Abreu 2, 11 , Isidro Machado 12 , Carmen Illueca 12 , Jesus Alfaro 2, 13 , Mariano Provencio 1, 2, * and Margarita Sanchez-Beato 2, 3, * 1 Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain 2 GOTEL (Spanish Lymphoma Oncology Group), Madrid, Spain 3 Group of Research in Lymphomas, Medical Oncology Department, Instituto de Investigacion Sanitaria Puerta de Hierro-Segovia de Arana, Madrid, Spain 4 Centro de Investigacion Biomedica en Red de Cancer (CIBERONC), Madrid, Spain 5 Medical Oncology Department, Instituto Valenciano de Oncologia, Valencia, Spain 6 Pathology Department, MD Anderson Cancer Center, Madrid, Spain 7 Pathology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain 8 Pathology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain 9 Medical Oncology Department, Hospital Serrania de Ronda, Malaga, Spain 10 Medical Oncology Department, Hospital Universitari i Politecnic La Fe, Valencia, Spain 11 Medical Oncology Department, Hospital Universitario Insular de Gran Canaria, Las Palmas, Spain 12 Pathology Department, Instituto Valenciano de Oncologia, Valencia, Spain 13 Medical Oncology Department, Instituto Oncologico de Kutxa, Donostia, Spain * Joint senior authors Correspondence to: Margarita Sanchez-Beato, email: msbeato@idiphim.org 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 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.
- Published
- 2017