Page 78 - CIBERER2016-ENG

leaD reSearcHer
Fernández Piqueras, José
Universidad Autónoma
de Madrid
Centro de Biología Molecular Severo Ochoa.
Campus de Cantoblanco UAM Nicolás Cabrera, 1
28049 Madrid
(+34) 911964653 [email protected] group website
GROUP MEMBERS
Staff members: González Sánchez, Laura | Lopez Nieva, María del Pilar Associated members: Santos Hernández, Javier | Villa Morales, María
Main lines of research
An integrated genomic and epigenomic view of intratumor heterogeneity during the evolution
of precursor T-cell lymphoblastic neoplasms in the context of a precision and individualized medicine:
Precursor T-cell lymphoblastic neoplasms are aggressive haematological malignancies, which mainly develop in children but can also affect adults. Most often they manifest with extensive marrow and blood affectation (acute T-cell lymphoblastic leukaemia, T-ALL), and less commonly as a mass lesion in the thymus/anterior mediastinum or in lymph nodes, with less than 25% marrow blasts (T-cell lymphoblastic lymphoma, T-LBL). As any type of cancer, T-cell lymphoblastic neoplasms consist of a very heterogeneous group of diseases characterized by the joint occurrence of genetic and epigenetic alterations, which evolve from the time of diagnosis in the context of intratumoral heterogeneity as an unavoidable consequence of genetic instability, and may be deeply modified in relapses. In view of this background, our first aim is to assess for intratumoral heterogeneity in selected series of human T-cell lymphoblastic neoplasms using next generation sequencing (tailored genomic and transcriptomic analyses) and epigenomic approaches in paired samples at diagnosis and relapse. Since preliminary results evidenced overexpression of
several deaminases of the ADAR and APOBEC families, we are comparing genomic and transcriptomic sequences to assess for DNA and/or RNA editing. Another goal is to explain aberrant expression of critical
78
PROGRAMMES
Inherited Cancer, Haematological and Dermatological Diseases