Abstract for presentation at 11th International Congress of Human Genetics

Amplification of MYCN, TERT, TERC and expression of neurotrophin receptors for tyrosine kinases and tyrosine hydroxylase in neuroblastoma

  • Prof Danuta Januszkiewicz, Institute of Human Genetics Polish Academy of Sciences, University of Medical Science, Poland
  • Monika Pernak, Institute of Human Genetics Polish Academy of Sciences, Poland
  • Dr Mariola Zawada, Institute of Human Genetics Polish Academy of Sciences, Poland
  • Prof Jerzy Nowak, Institute of Human Genetics Polish Academy of Sciences, Poland

    • Prognosis of neuroblastoma is dependent on a number of factors. Most important are: age of child, progression of the disesase, involvement of lymph nodes, bone marrow, and skeletal system, tumor localization, histological picture, level of serum ferritin, and neuronal – specific enolase as well as MYCN amplification. Evaluation of prognostic parameters should determine the choice of appropriate treatment. Knowing of molecular markers of neuroblastoma cell differentiation should enable to distinquish better and worser prognosed neuroblastoma. Applying optimal form of treatment should lead to better cure of advanced form of neuroblastoma. The aim of the study was to assess the usefullnes of molecular markers in diagnosis, prognosis and treatment optimalizaton of neuroblastoma in children. In this work tyrosine hydroxylase expression and MYCN, TERT and TERC genes amplification were analysed for evaluation of disease progression at the time of diagnosis (evaluation of bone marrow, tumor section, and lymph nodes), tumor staging and for choice of treatment. Minimal residual disease in peripheral blood has been detected by tyrosine hydroxylase expression and MYCN amplification. Peripheral blood, bone marrow, tumor specimens taken from 12 children treated according to HR-NBL 1-ESIOP program have been investigated. Before treatment MYCN, TERT and TERC genes amplification has been found either in tumour tissue and in the bone marrow. In follow-up study expression of tyrosine hydroxylase and MYCN was lower in tumour tissue after initial therapy (COJEC). In the majority of patients in tumour tissue high relative expression of Trk-A and low of Trk-B and Trk-C has been found. The performed study allowed to precisely determine disease staging and progression as well as molecular remission in bone marrow in disseminated neuroblastoma.
    This work has been supported by Ministry of Science grant no PBZ-KBN-091/PO5/2003/09.

    Conference Organiser - ICMS Pty Ltd