Pathogenetic, diagnostic and prognostic role of konwn and yet unknown deregulated t (2;5) – associated genes, including CSF1R and AP-1 complex proteins in ALCL

Charite- Universität-Medizin Berlin

Dr. Stephan Mathas


Publication Link

Mechanisms of transformation in lymphoma

Research Interest

Stephan Mathas works as an MD treating in particular patients suffering from malignant lymphomas and group leader at the Max-Delbrück-Centre for Molecular Medicine. His research focuses on the pathogenesis of classical Hodgkin lymphoma and ALCL, for which his laboratory has already identified key molecular defects.

Mariantonia Costanza

Research student



Research Interest

I was born in a little city in the south of Italy but since I was a kid I wanted to be a “mad scientist”. Over the years a keen desire to understand the basic  functioning of the body made me sincerely fond of biology so I studied for my Bachelor’s degree in Biotechnology at the University of Parma. The more I studied, the more curious I became to pursue the cancer research.
My curiosity and passion for the subject got me an internship at Department of Medicine and Surgery in Milano Bicocca where I focused my attention on the identification and characterization of a new gene mutation found in melanoma cells resistant to vemurafenib.
During my PhD project, within the ALKATRAS training network, I will be working on the project “Pathogenetic, diagnostic and prognostic role of known and yet unknown deregulated t(2;5)-associated genes, including CSF1R and AP-1 complex proteins in ALCL” in Dr. Stephan Mathas’ s laboratory.

Research description

Previously, we identified a number of deregulated genes located near the ALCL translocation breakpoint, regardless of the presence of the t(2;5), which promote cell survival and repression of the T cell-specific gene expression program which is characteristic feature of ALCL. In order to identify yet unknown deregulated genes near the breakpoint we propose to: Integrate gene expression data together with genome-wide analyses of active chromatin regions and epigenetic chromatin marks;

validate candidate genes at the protein level in cell lines and primary ALCL tissue samples, and functionally tested for their biological relevance in ALCL; evaluate the utility of the oncogenic tyrosine kinase receptor CSF1R (near the breakpoint gene) and its unique long terminal repeat (LTR) – driven transcripts as diagnostic or inhibitors to establish a putative new therapeutic target; explore the interference of the already identified deregulated AP-1 member FRA2 with AP-1 – induce PDGFR and CD30 signalling.

Expected Results:
Discovery of putative diagnostic and prognostic markers related to deregulated breakpoint associated genes; insights into the mechansims of transformation of ALCL in general; development of novel therapeutic options

Planned secondment(s):
Year 1: Sofigen – analysis of SNP arrays – 2 months;
Year 2: MUW (B#3) – analysis of epigenetic chromatin marks – 1 month

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