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Mutational profile of primary breast diffuse large B-cell lymphoma
Fernando Franco1,2, Julia González-Rincón3,4, Javier Lavernia2,5
1Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Oncotarget
|December 22, 2017
Summary
Primary breast diffuse large B-cell lymphoma (DLBCL) shows distinct genetic mutations, particularly in PIM1. These findings offer insights into the molecular drivers and potential therapeutic targets for this rare cancer.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Primary breast lymphoma is a rare extra-nodal lymphoid neoplasm.
- Diffuse large B-cell lymphoma (DLBCL) is the most common histological type, accounting for 60-80% of cases.
Purpose of the Study:
- To analyze the mutational profile of primary breast DLBCL.
- To identify frequently mutated genes and affected signaling pathways.
Main Methods:
- Targeted massive sequencing of a 38-gene panel.
- Analysis of 17 patients with primary breast DLBCL.
Main Results:
- High mutational frequency observed in PIM1 (50%), MYD88 (39%), CD79B, PRDM1, CARD11 (17%), KMT2D, TNFIAP3, and CREBBP (11%).
- Mutated genes predominantly involve the NFκB signaling pathway.
- Germinal center (44%) and activated B-cell (33.3%) phenotypes were identified.
Conclusions:
- The specific mutational landscape of primary breast DLBCL, especially high PIM1 mutations, may influence clinical presentation and disease progression.
- Understanding these genetic alterations is crucial for developing targeted therapies.
