Sydney West Translational Cancer Research Centre
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Prof Graeme Eisenhofer: Neural-crest derived catecholamine-producing tumors of childhood



Seminar Room 1 and 2, Children’s Medical Research Institute (CMRI), 214 Hawkesbury Rd, Westmead

Graeme Eisenhofer is Professor and Chief of the Division of Clinical Neurochemistry, Technische Universität Dresden

Seminar Title: ‘Neural-crest derived catecholamine-producing tumors of childhood’

Host: Rosemary Balleine

Pheochromocytomas, paragangliomas (PPGLs) and neuroblastomas are rare neural crest-derived catecholamine-producing tumors, the latter presenting in childhood and the former more often in adults. Nevertheless, it is now clear that the 13% of PPGLs detected in childhood grossly underestimates the true pediatric incidence, particularly since diagnosis is often delayed by a decade or more after tumors first appear. Thus, most that occur in young adults likely develop in childhood, but are missed due to difficulties in disease recognition. With at least 40% of PPGLs resulting from germline mutations of multiple tumor-susceptibility genes there is increasing need for surveillance programs that enable earlier detection of tumors with potentially better outcomes. With highly sensitive methods for biochemical diagnosis, as developed by us and now used world-wide, it is now possible to detect disease at an early stage and even apply similar methods for detection of neuroblastoma. While neuroblastoma does not have the same rich hereditary background as PPGLs, there are some common pathways driving both neoplasms, providing a basis for improved biological understanding of the two tumor entities. Dr Eisenhofer joins us in Sydney at the invitation of Dr Andrea Horvath and with support from New South Wales Health Pathology to assist with establishing coordinated mass spectrometry diagnostic services that will interface with clinical care and academic collaborative research. One of the projects that he is assisting with involves mass-spectrometry based measurements of a panel of biogenic amine metabolites that can be applied for improved diagnosis of neural crest derived catecholamine-producing tumors, including neuroblastoma