New paper by Dr. Francesco Bertoni lab

news on 6 Feb , 2019

A new study led by Francesco Bertoni in collaboration with Francesco Forconi from the University of Southampton provides novel insights in the pathogenesis of hairy cell leukemia.

Classic hairy cell leukemia (HCL) is a rare mature B cell tumor that is characterized by the acquisition of the BRAF V600E mutation, which leads to constitutive BRAF-MEK-ERK pathway activation and represents an effective therapeutic target in patients. However, the inability of BRAF inhibitors to completely eradicate HCL in patients suggests that factors other than genetics may contribute to disease pathogenesis and behavior.

Alberto Arribas and Andrea Rinaldi have investigated the DNA promoter methylation profiles of hairy cell leukemia and compared them with other B-cell tumor entities and with normal peripheral blood B cells at different stages of differentiation. A specific methylation signature of hairy cell leukemia, distinct from each B-cell tumor entity, including the closest entity, splenic marginal zone lymphoma could be identified.  Comparison with normal B-cell subsets revealed the strongest similarity with post-germinal center (GC) B cells and highlighted the deregulation of individual genes coding for specific components of the B-cell receptor and the BRAF signaling pathways.

Genome-wide promoter methylation of hairy cell leukemia

Alberto J. Arribas *,Andrea Rinaldi *, Giorgia Chiodin, Ivo Kwee, Afua A. Mensah, Luciano Cascione, Davide Rossi, Meena Kanduri, Richard Rosenquist, Emanuele Zucca, Peter W. Johnson, Gianluca Gaidano, Christopher C. Oakes,Francesco Bertoni ^,Francesco Forconi ^.

*equally contributed; ^co- corresponding authors

Blood Advances 2019 3:384-396; doi: